From 51ba5053767ca9b03fbb0dedd366e891116b6687 Mon Sep 17 00:00:00 2001 From: Peter Robinson Date: Tue, 5 Nov 2024 12:59:29 +0100 Subject: [PATCH] update --- data/citations.txt | 10 +- docs/publications.md | 681 ++++++++++++++++++++++--------------------- 2 files changed, 351 insertions(+), 340 deletions(-) diff --git a/data/citations.txt b/data/citations.txt index 4eda9bf..3894960 100644 --- a/data/citations.txt +++ b/data/citations.txt @@ -1,8 +1,16 @@ -- # Publications +-pmid: 39496626 +authors: Karlebach G, Steinhaus R, Danis D, Devoucoux M, Anczuków O, Sheynkman G, Seelow D, Robinson PN. +year: 2024 +title: Alternative splicing is coupled to gene expression in a subset of variably expressed genes. +journal:NPJ Genom Med +volume: 9(1) +pages:54 +top: false --pmid: +-pmid: 39396132 authors: Beckwith MA, Danis D, Bridges Y, Jacobsen JOB, Smedley D, Robinson PN year: 2024 title: Leveraging Clinical Intuition to Improve Accuracy of Phenotype-Driven Prioritization diff --git a/docs/publications.md b/docs/publications.md index ef481b3..33aa5ac 100644 --- a/docs/publications.md +++ b/docs/publications.md @@ -39,1077 +39,1080 @@ Authors who are lab members or alumni are shown in **bold** font. ## 2024 Publications -1. Beckwith MA, **Danis D**, Bridges Y, Jacobsen JOB, Smedley D, **Robinson PN** +1. **Karlebach G**, Steinhaus R, **Danis D**, Devoucoux M, Anczuków O, Sheynkman G, Seelow D, **Robinson PN** +Alternative splicing is coupled to gene expression in a subset of variably expressed genes. + *NPJ Genom Med*, 2024; **9(1)**:54 [PMID:39496626](https://pubmed.ncbi.nlm.nih.gov/39496626/){:target="_blank"} +2. Beckwith MA, **Danis D**, Bridges Y, Jacobsen JOB, Smedley D, **Robinson PN** Leveraging Clinical Intuition to Improve Accuracy of Phenotype-Driven Prioritization - *Genet Med*, 2024; **101292. doi 10.1016/j.gim.2024.101292.**:Epub ahead of print. [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -2. **Danis D**, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, **Hansen P**, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Chandrabose Sundaramurthi J, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, **Robinson PN** + *Genet Med*, 2024; **101292. doi 10.1016/j.gim.2024.101292.**:Epub ahead of print. [PMID:39396132](https://pubmed.ncbi.nlm.nih.gov/39396132/){:target="_blank"} +3. **Danis D**, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, **Hansen P**, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Chandrabose Sundaramurthi J, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, **Robinson PN** A corpus of GA4GH phenopackets case-level phenotyping for genomic diagnostics and discovery *HGG Adv.*, 2024; **100371. doi 10.1016/j.xhgg.2024.100371.**:Epub ahead of print [PMID:39394689](https://pubmed.ncbi.nlm.nih.gov/39394689/){:target="_blank"} -3. van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, **Robinson PN**, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B +4. van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, **Robinson PN**, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases. *Orphanet J Rare Dis*, 2024; **19(1)**:357 [PMID:39334316](https://pubmed.ncbi.nlm.nih.gov/39334316/){:target="_blank"} -4. Matentzoglu N, Bello SM, Stefancsik R, Alghamdi SM, Anagnostopoulos AV, Balhoff JP, Balk MA, Bradford YM, Bridges Y, Callahan TJ, Caufield H, Cuzick A, Carmody LC, Caron AR, de Souza V, Engel SR, Fey P, Fisher M, Gehrke S, Grove C, **Hansen P**, Harris NL, Harris MA, Harris L, Ibrahim A, Jacobsen JOB, **Köhler S**, McMurry JA, Munoz-Fuentes V, Munoz-Torres MC, Parkinson H, Pendlington ZM, Pilgrim C, Robb SM, **Robinson PN**, Seager J, Segerdell E, Smedley D, Sollis E, Toro S, Vasilevsky N, Wood V, Haendel MA, Mungall CJ, McLaughlin JA, Osumi-Sutherland D +5. Matentzoglu N, Bello SM, Stefancsik R, Alghamdi SM, Anagnostopoulos AV, Balhoff JP, Balk MA, Bradford YM, Bridges Y, Callahan TJ, Caufield H, Cuzick A, Carmody LC, Caron AR, de Souza V, Engel SR, Fey P, Fisher M, Gehrke S, Grove C, **Hansen P**, Harris NL, Harris MA, Harris L, Ibrahim A, Jacobsen JOB, **Köhler S**, McMurry JA, Munoz-Fuentes V, Munoz-Torres MC, Parkinson H, Pendlington ZM, Pilgrim C, Robb SM, **Robinson PN**, Seager J, Segerdell E, Smedley D, Sollis E, Toro S, Vasilevsky N, Wood V, Haendel MA, Mungall CJ, McLaughlin JA, Osumi-Sutherland D The Unified Phenotype Ontology (uPheno) A framework for cross-species integrative phenomics. *bioRxiv [Preprint]*, 2024; **2024.09.18.613276.**:. [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -5. Cavalleri E, Cabri A, Soto-Gomez M, Bonfitto S, Perlasca P, Gliozzo J, Callahan TJ, Reese J, **Robinson PN**, Casiraghi E, Valentini G, Mesiti M +6. Cavalleri E, Cabri A, Soto-Gomez M, Bonfitto S, Perlasca P, Gliozzo J, Callahan TJ, Reese J, **Robinson PN**, Casiraghi E, Valentini G, Mesiti M An ontology-based knowledge graph for representing interactions involving RNA molecules. *Sci Data*, 2024; **11(1)**:906 [PMID:39174566](https://pubmed.ncbi.nlm.nih.gov/39174566/){:target="_blank"} -6. White BS, Woo XY, Koc S, Sheridan T, Neuhauser SB, Wang S, Evrard YA, Chen L, Foroughi Pour A, Landua JD, Mashl RJ, Davies SR, Fang B, Raso MG, Evans KW, Bailey MH, Chen Y, Xiao M, Rubinstein JC, Sanderson BJ, Lloyd MW, Domanskyi S, Dobrolecki LE, Fujita M, Fujimoto J, Xiao G, Fields RC, Mudd JL, Xu X, Hollingshead MG, Jiwani S, Acevedo S; PDXNet Consortium; Davis-Dusenbery BN, **Robinson PN**, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Carvajal-Carmona LG, Welm AL, Welm BE, Govindan R, Li S, Davies MA, Roth JA, Meric-Bernstam F, Xie Y, Herlyn M, Ding L, Lewis MT, Bult CJ, Dean DA 2nd, Chuang JH +7. White BS, Woo XY, Koc S, Sheridan T, Neuhauser SB, Wang S, Evrard YA, Chen L, Foroughi Pour A, Landua JD, Mashl RJ, Davies SR, Fang B, Raso MG, Evans KW, Bailey MH, Chen Y, Xiao M, Rubinstein JC, Sanderson BJ, Lloyd MW, Domanskyi S, Dobrolecki LE, Fujita M, Fujimoto J, Xiao G, Fields RC, Mudd JL, Xu X, Hollingshead MG, Jiwani S, Acevedo S; PDXNet Consortium; Davis-Dusenbery BN, **Robinson PN**, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Carvajal-Carmona LG, Welm AL, Welm BE, Govindan R, Li S, Davies MA, Roth JA, Meric-Bernstam F, Xie Y, Herlyn M, Ding L, Lewis MT, Bult CJ, Dean DA 2nd, Chuang JH A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis *Cancer Res*, 2024; **84(13)**:2060-2072 [PMID:39082680](https://pubmed.ncbi.nlm.nih.gov/39082680/){:target="_blank"} -7. Wang CM, Whiting AH, Rath A, Anido R, Ardigò D, Baynam G, Dawkins H, Hamosh A, Le Cam Y, Malherbe H, Molster CM, Monaco L, Padilla CD, Pariser AR, **Robinson PN**, Rodwell C, Schaefer F, Weber S, Macchia F +8. Wang CM, Whiting AH, Rath A, Anido R, Ardigò D, Baynam G, Dawkins H, Hamosh A, Le Cam Y, Malherbe H, Molster CM, Monaco L, Padilla CD, Pariser AR, **Robinson PN**, Rodwell C, Schaefer F, Weber S, Macchia F Operational description of rare diseases a reference to improve the recognition and visibility of rare diseases. *Orphanet J Rare Dis*, 2024; **19(1)**:334 [PMID:39261914](https://pubmed.ncbi.nlm.nih.gov/39261914/){:target="_blank"} -8. Caufield JH, Hegde H, Emonet V, Harris NL, Joachimiak MP, Matentzoglu N, Kim H, Moxon S, Reese JT, Haendel MA, **Robinson PN**, Mungall CJ +9. Caufield JH, Hegde H, Emonet V, Harris NL, Joachimiak MP, Matentzoglu N, Kim H, Moxon S, Reese JT, Haendel MA, **Robinson PN**, Mungall CJ Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES) a method for populating knowledge bases using zero-shot learning *Bioinformatics*, 2024; **40(3)**:btae104 [PMID:38383067](https://pubmed.ncbi.nlm.nih.gov/38383067/){:target="_blank"} -9. Cappelletti L, Rekerle L, Fontana T, **Hansen P**, Casiraghi E, **Ravanmehr V**, Mungall CJ, Yang JJ, Spranger L, **Karlebach G**, Caufield JH, **Carmody L**, Coleman B, Oprea TI, Reese J, Valentini G, **Robinson PN** +10. Cappelletti L, Rekerle L, Fontana T, **Hansen P**, Casiraghi E, **Ravanmehr V**, Mungall CJ, Yang JJ, Spranger L, **Karlebach G**, Caufield JH, **Carmody L**, Coleman B, Oprea TI, Reese J, Valentini G, **Robinson PN** Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning *Bioinform Adv*, 2024; **4(1)**:vbae036 [PMID:38577542](https://pubmed.ncbi.nlm.nih.gov/38577542/){:target="_blank"} -10. Callahan TJ, Tripodi IJ, Stefanski AL, Cappelletti L, Taneja SB, Wyrwa JM, Casiraghi E, Matentzoglu NA, Reese J, Silverstein JC, Hoyt CT, Boyce RD, Malec SA, Unni DR, Joachimiak MP, **Robinson PN**, Mungall CJ, Cavalleri E, Fontana T, Valentini G, Mesiti M, Gillenwater LA, Santangelo B, Vasilevsky NA, Hoehndorf R, Bennett TD, Ryan PB, Hripcsak G, Kahn MG, Bada M, Baumgartner WA Jr, Hunter LE +11. Callahan TJ, Tripodi IJ, Stefanski AL, Cappelletti L, Taneja SB, Wyrwa JM, Casiraghi E, Matentzoglu NA, Reese J, Silverstein JC, Hoyt CT, Boyce RD, Malec SA, Unni DR, Joachimiak MP, **Robinson PN**, Mungall CJ, Cavalleri E, Fontana T, Valentini G, Mesiti M, Gillenwater LA, Santangelo B, Vasilevsky NA, Hoehndorf R, Bennett TD, Ryan PB, Hripcsak G, Kahn MG, Bada M, Baumgartner WA Jr, Hunter LE An open source knowledge graph ecosystem for the life sciences *Sci Data*, 2024; **11(1)**:363 [PMID:38605048](https://pubmed.ncbi.nlm.nih.gov/38605048/){:target="_blank"} -11. Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, **Robinson PN**, Smedley D +12. Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, **Robinson PN**, Smedley D Lethal phenotypes in Mendelian disorders *Genet Med*, 2024; **26(7)**:101141 [PMID:38629401](https://pubmed.ncbi.nlm.nih.gov/38629401/){:target="_blank"} -12. Chan LE, Casiraghi E, Reese J, Harmon QE, Schaper K, Hegde H, Valentini G, Schmitt C, Motsinger-Reif A, Hall JE, Mungall CJ, **Robinson PN**, Haendel MA +13. Chan LE, Casiraghi E, Reese J, Harmon QE, Schaper K, Hegde H, Valentini G, Schmitt C, Motsinger-Reif A, Hall JE, Mungall CJ, **Robinson PN**, Haendel MA Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests *Int J Med Inform*, 2024; **187**:105461 [PMID:38643701](https://pubmed.ncbi.nlm.nih.gov/38643701/){:target="_blank"} -13. Morgan AT, Coleman B, Vogel AP, McNeill A, **Robinson PN** +14. Morgan AT, Coleman B, Vogel AP, McNeill A, **Robinson PN** Speech and language classification in the human phenotype ontology *Eur J Hum Genet*, 2024; **doi 10.1038/s41431-024-01635-6**:Epub ahead of print [PMID:38951652](https://pubmed.ncbi.nlm.nih.gov/38951652/){:target="_blank"} -14. Groza T, Gration D, Baynam G, **Robinson PN** +15. Groza T, Gration D, Baynam G, **Robinson PN** FastHPOCR Pragmatic, fast and accurate concept recognition using the Human Phenotype Ontology *Bioinformatics*, 2024; **40(7)**:btae406 [PMID:38913850](https://pubmed.ncbi.nlm.nih.gov/38913850/){:target="_blank"} -15. Coleman B, Casiraghi E, Callahan TJ, **Blau H**, Chan LE, Laraway B, Clark KB, Re'em Y, Gersing KR, Wilkins KJ, Harris NL, Valentini G, Haendel MA, Reese JT, **Robinson PN** +16. Coleman B, Casiraghi E, Callahan TJ, **Blau H**, Chan LE, Laraway B, Clark KB, Re'em Y, Gersing KR, Wilkins KJ, Harris NL, Valentini G, Haendel MA, Reese JT, **Robinson PN** Association of post-COVID phenotypic manifestations with new-onset psychiatric disease *Transl Psychiatry*, 2024; **14(1)**:246 [PMID:38851761](https://pubmed.ncbi.nlm.nih.gov/38851761/){:target="_blank"} -16. Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, **Robinson PN**, Smedley D +17. Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, **Robinson PN**, Smedley D Improving prenatal diagnosis through standards and aggregation *Prenat Diagn*, 2024; **44(4)**:454-464 [PMID:38242839](https://pubmed.ncbi.nlm.nih.gov/38242839/){:target="_blank"} -17. Groza T, Caufield H, Gration D, Baynam G, Haendel MA, **Robinson PN**, Mungall CJ, Reese JT +18. Groza T, Caufield H, Gration D, Baynam G, Haendel MA, **Robinson PN**, Mungall CJ, Reese JT An evaluation of GPT models for phenotype concept recognition *BMC Med Inform Decis Mak*, 2024; **24**:30 [PMID:38297371](https://pubmed.ncbi.nlm.nih.gov/38297371/){:target="_blank"} -18. Putman TE, Schaper K, Matentzoglu N, Rubinetti VP, Alquaddoomi FS, Cox C, Caufield JH, Elsarboukh G, Gehrke S, Hegde H, Reese JT, Braun I, Bruskiewich RM, Cappelletti L, Carbon S, Caron AR, Chan LE, Chute CG, Cortes KG, De Souza V, Fontana T, Harris NL, Hartley EL, Hurwitz E, Jacobsen JOB, Krishnamurthy M, Laraway BJ, McLaughlin JA, McMurry JA, Moxon SAT, Mullen KR, O'Neil ST, Shefchek KA, Stefancsik R, Toro S, Vasilevsky NA, Walls RL, Whetzel PL, Osumi-Sutherland D, Smedley D, **Robinson PN**, Mungall CJ, Haendel MA, Munoz-Torres MC +19. Putman TE, Schaper K, Matentzoglu N, Rubinetti VP, Alquaddoomi FS, Cox C, Caufield JH, Elsarboukh G, Gehrke S, Hegde H, Reese JT, Braun I, Bruskiewich RM, Cappelletti L, Carbon S, Caron AR, Chan LE, Chute CG, Cortes KG, De Souza V, Fontana T, Harris NL, Hartley EL, Hurwitz E, Jacobsen JOB, Krishnamurthy M, Laraway BJ, McLaughlin JA, McMurry JA, Moxon SAT, Mullen KR, O'Neil ST, Shefchek KA, Stefancsik R, Toro S, Vasilevsky NA, Walls RL, Whetzel PL, Osumi-Sutherland D, Smedley D, **Robinson PN**, Mungall CJ, Haendel MA, Munoz-Torres MC The Monarch Initiative in 2024 an analytic platform integrating phenotypes, genes and diseases across species *Nucleic Acids Res*, 2024; **52(D1)**:D938-D949 [PMID:38000386](https://pubmed.ncbi.nlm.nih.gov/38000386/){:target="_blank"} -19. Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, **Robinson PN**, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS +20. Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, **Robinson PN**, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS Towards robust clinical genome interpretation developing a consistent terminology to characterize Mendelian disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms *Genet Med*, 2024; **26(2)**:101029 [PMID:37982373](https://pubmed.ncbi.nlm.nih.gov/37982373/){:target="_blank"} -20. **Gargano MA**, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, **Blau H**, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlčková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, **Danis D**, Mungall CJ, **Köhler S**, Haendel MA, **Robinson PN** +21. **Gargano MA**, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, **Blau H**, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlčková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, **Danis D**, Mungall CJ, **Köhler S**, Haendel MA, **Robinson PN** The Human Phenotype Ontology in 2024 phenotypes around the world *Nucleic Acids Res*, 2024; **52(D1)**:D1333-D1346 [PMID:37953324](https://pubmed.ncbi.nlm.nih.gov/37953324/){:target="_blank"} -21. **Karlebach G**, **Robinson PN** +22. **Karlebach G**, **Robinson PN** Computing Minimal Boolean Models of Gene Regulatory Networks *J Comput Biol*, 2024; **31(2)**:117-127 [PMID:37889991](https://pubmed.ncbi.nlm.nih.gov/37889991/){:target="_blank"} ## 2023 Publications -22. Cappelletti L, Fontana T, Casiraghi E, **Ravanmehr V**, Callahan TJ, Cano C, Joachimiak MP, Mungall CJ, **Robinson PN**, Reese J, Valentini G +23. Cappelletti L, Fontana T, Casiraghi E, **Ravanmehr V**, Callahan TJ, Cano C, Joachimiak MP, Mungall CJ, **Robinson PN**, Reese J, Valentini G GRAPE for fast and scalable graph processing and random-walk-based embedding *Nat Comput Sci*, 2023; **3(6)**:552-568 [PMID:38177435](https://pubmed.ncbi.nlm.nih.gov/38177435/){:target="_blank"} -23. Groza T, Wu H, Dinger ME, **Danis D**, Hilton C, Bagley A, Davids JR, Luo L, Lu Z, , **Robinson PN** +24. Groza T, Wu H, Dinger ME, **Danis D**, Hilton C, Bagley A, Davids JR, Luo L, Lu Z, , **Robinson PN** Term-BLAST-Like Alignment Tool for Concept Recognition in Noisy Clinical Texts *Bioinformatics*, 2023; **39**:btad716 [PMID:38001031](https://pubmed.ncbi.nlm.nih.gov/38001031/){:target="_blank"} -24. Valentini G, Malchiodi D, Gliozzo J, Mesiti M, Soto-Gomez M, Cabri A, Reese J, Casiraghi E, , **Robinson PN** +25. Valentini G, Malchiodi D, Gliozzo J, Mesiti M, Soto-Gomez M, Cabri A, Reese J, Casiraghi E, , **Robinson PN** The promises of large language models for protein design and modeling *Front Bioinform*, 2023; **3**:1304099 [PMID:38076030](https://pubmed.ncbi.nlm.nih.gov/38076030/){:target="_blank"} -25. Carmody LC, **Gargano MA**, Toro S, Vasilevsky NA, Adam MP, **Blau H**, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, , **Robinson PN** +26. Carmody LC, **Gargano MA**, Toro S, Vasilevsky NA, Adam MP, **Blau H**, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, , **Robinson PN** The Medical Action Ontology A tool for annotating and analyzing treatments and clinical management of human disease *Med*, 2023; **4(12)**:913-927 [PMID:37963467](https://pubmed.ncbi.nlm.nih.gov/37963467/){:target="_blank"} -26. Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, **Köhler S**, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A +27. Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, **Köhler S**, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A Phenotypic similarity-based approach for variant prioritization for unsolved rare disease a preliminary methodological report *Eur J Hum Genet*, 2023; **10.1038/s41431-023-01486-7**:Epub ahead of print [PMID:37926714](https://pubmed.ncbi.nlm.nih.gov/37926714/){:target="_blank"} -27. Sundaramurthi JC, Bagley AM, **Blau H**, **Carmody L**, Crandall A, **Danis D**, Gargano M, Gustafson AG, Raney EM, Shingle M, Davids JR, **Robinson PN** +28. Sundaramurthi JC, Bagley AM, **Blau H**, **Carmody L**, Crandall A, **Danis D**, Gargano M, Gustafson AG, Raney EM, Shingle M, Davids JR, **Robinson PN** De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy *Cold Spring Harb Mol Case Stud*, 2023; **8**:mcs.a006293 [PMID:37684057](https://pubmed.ncbi.nlm.nih.gov/37684057/){:target="_blank"} -28. Stefanucci L, Collins JH, Sims MC, Barrio-Hernandez I, Sun L, Burren O, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson JD, Paneerselvam K, Petrovski S, Porras P, **Robinson PN**, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss KJ, Downes K, Gleadall NS, Megy K, Bruford E, Vuckovic D +29. Stefanucci L, Collins JH, Sims MC, Barrio-Hernandez I, Sun L, Burren O, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson JD, Paneerselvam K, Petrovski S, Porras P, **Robinson PN**, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss KJ, Downes K, Gleadall NS, Megy K, Bruford E, Vuckovic D The effects of pathogenic variants for inherited hemostasis disorders in 140,214 UK Biobank participants *Blood*, 2023; **doi 10.1182/blood.2023020118**:Epub ahead of print [PMID:37647632](https://pubmed.ncbi.nlm.nih.gov/37647632/){:target="_blank"} -29. Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, **Robinson PN**, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T +30. Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, **Robinson PN**, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant *Am J Med Genet C Semin Med Genet*, 2023; **n/a**:Epub ahead of print [PMID:37654076](https://pubmed.ncbi.nlm.nih.gov/37654076/){:target="_blank"} -30. Antony B, **Blau H**, Casiraghi E, Loomba JJ, Callahan TJ, Laraway BJ, Wilkins KJ, Antonescu CC, Valentini G, Williams AE, **Robinson PN**, Reese JT, Murali TM; N3C consortium +31. Antony B, **Blau H**, Casiraghi E, Loomba JJ, Callahan TJ, Laraway BJ, Wilkins KJ, Antonescu CC, Valentini G, Williams AE, **Robinson PN**, Reese JT, Murali TM; N3C consortium Predictive models of long COVID *EBioMedicine*, 2023; **96**:104777 [PMID:37672869](https://pubmed.ncbi.nlm.nih.gov/37672869/){:target="_blank"} -31. Callahan TJ, Stefanski AL, Wyrwa JM, Zeng C, Ostropolets A, Banda JM, Baumgartner WA Jr, Boyce RD, Casiraghi E, **Coleman BD**, Collins JH, Deakyne Davies SJ, Feinstein JA, Lin AY, Martin B, Matentzoglu NA, Meeker D, Reese J, Sinclair J, Taneja SB, Trinkley KE, Vasilevsky NA, Williams AE, Zhang XA, Denny JC, Ryan PB, Hripcsak G, Bennett TD, Haendel MA, **Robinson PN**, Hunter LE, Kahn MG +32. Callahan TJ, Stefanski AL, Wyrwa JM, Zeng C, Ostropolets A, Banda JM, Baumgartner WA Jr, Boyce RD, Casiraghi E, **Coleman BD**, Collins JH, Deakyne Davies SJ, Feinstein JA, Lin AY, Martin B, Matentzoglu NA, Meeker D, Reese J, Sinclair J, Taneja SB, Trinkley KE, Vasilevsky NA, Williams AE, Zhang XA, Denny JC, Ryan PB, Hripcsak G, Bennett TD, Haendel MA, **Robinson PN**, Hunter LE, Kahn MG Ontologizing health systems data at scale making translational discovery a reality *NPJ Digit Med*, 2023; **6**:89 [PMID:37208468](https://pubmed.ncbi.nlm.nih.gov/37208468/){:target="_blank"} -32. Sundaramurthi JC, Bagley AM, **Blau H**, **Carmody L**, Crandall A, **Danis D**, Gargano M, Gustafson AG, Raney EM, Shingle M, Davids JR, **Robinson PN** +33. Sundaramurthi JC, Bagley AM, **Blau H**, **Carmody L**, Crandall A, **Danis D**, Gargano M, Gustafson AG, Raney EM, Shingle M, Davids JR, **Robinson PN** De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy *Cold Spring Harb Mol Case Stud*, 2023; **n/a**:Epub ahead of print [PMID:37684057](https://pubmed.ncbi.nlm.nih.gov/37684057/){:target="_blank"} -33. Caufield JH, Putman T, Schaper K, Unni DR, Hegde H, Callahan TJ, Cappelletti L, Moxon SAT, **Ravanmehr V**, Carbon S, Chan LE, Cortes K, Shefchek KA, Elsarboukh G, Balhoff J, Fontana T, Matentzoglu N, Bruskiewich RM, Thessen AE, Harris NL, Munoz-Torres MC, Haendel MA, **Robinson PN**, Joachimiak MP, Mungall CJ, Reese JT +34. Caufield JH, Putman T, Schaper K, Unni DR, Hegde H, Callahan TJ, Cappelletti L, Moxon SAT, **Ravanmehr V**, Carbon S, Chan LE, Cortes K, Shefchek KA, Elsarboukh G, Balhoff J, Fontana T, Matentzoglu N, Bruskiewich RM, Thessen AE, Harris NL, Munoz-Torres MC, Haendel MA, **Robinson PN**, Joachimiak MP, Mungall CJ, Reese JT KG-Hub - Building and Exchanging Biological Knowledge Graphs *Bioinformatics*, 2023; **39**:btad418 [PMID:37389415](https://pubmed.ncbi.nlm.nih.gov/37389415/){:target="_blank"} -34. Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, **Koehler S**, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D +35. Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, **Koehler S**, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D The Ontology of Biological Attributes (OBA)-computational traits for the life sciences *Mamm Genome*, 2023; **Epub ahead of print**:doi 10.1007/s00335-023-09992-1 [PMID:37076585](https://pubmed.ncbi.nlm.nih.gov/37076585/){:target="_blank"} -35. Cappelletti L, Taverni, S, Fontana T, Joachimiak MP, Reese J, Robinson N, Casiraghi E, Valentini G +36. Cappelletti L, Taverni, S, Fontana T, Joachimiak MP, Reese J, Robinson N, Casiraghi E, Valentini G Degree-Normalization Improves Random-Walk-Based Embedding Accuracy in PPI Graphs *in Bioinformatics and Biomedical Engineering, editors Rojas I, Valenzuela O, Rojas Ruiz F, Herrera LJ, Ortuño F*, 2023; **n/a**:372-383 [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -36. Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, **Koehler S**, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D +37. Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, **Koehler S**, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D The Ontology of Biological Attributes (OBA)-computational traits for the life sciences *Mamm Genome*, 2023; **34(3)**:364-378 [PMID:37076585](https://pubmed.ncbi.nlm.nih.gov/37076585/){:target="_blank"} -37. **Karlebach G**, **Carmody L**, Sundaramurthi JC, Casiraghi E, **Hansen P**, Reese J, Mungall CJ, Valentini G, **Robinson PN** +38. **Karlebach G**, **Carmody L**, Sundaramurthi JC, Casiraghi E, **Hansen P**, Reese J, Mungall CJ, Valentini G, **Robinson PN** An expectation-maximization framework for comprehensive prediction of isoform-specific functions *Bioinformatics*, 2023; **39(4)**:btad132 [PMID:36929917](https://pubmed.ncbi.nlm.nih.gov/36929917/){:target="_blank"} -38. **Danis D**, Jacobsen JOB, Wagner AH, Groza T, Beckwith MA, Rekerle L, Carmody LC, Reese J, Hegde H, Ladewig MS, Seitz B, Munoz-Torres M, Harris NL, Rambla J, Baudis M, Mungall CJ, Haendel MA, **Robinson PN** +39. **Danis D**, Jacobsen JOB, Wagner AH, Groza T, Beckwith MA, Rekerle L, Carmody LC, Reese J, Hegde H, Ladewig MS, Seitz B, Munoz-Torres M, Harris NL, Rambla J, Baudis M, Mungall CJ, Haendel MA, **Robinson PN** Phenopacket-tools Building and validating GA4GH Phenopackets *PLoS One*, 2023; **18(5)**:e0285433 [PMID:37196000](https://pubmed.ncbi.nlm.nih.gov/37196000/){:target="_blank"} -39. Casiraghi E, Wong R, Hall M, Coleman B, Notaro M, Evans MD, Tronieri JS, **Blau H**, Laraway B, Callahan TJ, Chan LE, Bramante CT, Buse JB, Moffitt RA, Stürmer T, Johnson SG, Raymond Shao Y, Reese J, **Robinson PN**, Paccanaro A, Valentini G, Huling JD, Wilkins KJ; N3C Consortium +40. Casiraghi E, Wong R, Hall M, Coleman B, Notaro M, Evans MD, Tronieri JS, **Blau H**, Laraway B, Callahan TJ, Chan LE, Bramante CT, Buse JB, Moffitt RA, Stürmer T, Johnson SG, Raymond Shao Y, Reese J, **Robinson PN**, Paccanaro A, Valentini G, Huling JD, Wilkins KJ; N3C Consortium A method for comparing multiple imputation techniques A case study on the U.S. national COVID cohort collaborative *J Biomed Inform*, 2023; **139**:104295 [PMID:36716983](https://pubmed.ncbi.nlm.nih.gov/36716983/){:target="_blank"} -40. Knoflach K, Rapp CK, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Ring AM, Buchvald F, Manali E, Papiris S, Reu-Hofer S, Kappler M, Schieber A, Seidl E, Gothe F, **Robinson PN**, Griese M; ChILD EU Collaborators +41. Knoflach K, Rapp CK, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Ring AM, Buchvald F, Manali E, Papiris S, Reu-Hofer S, Kappler M, Schieber A, Seidl E, Gothe F, **Robinson PN**, Griese M; ChILD EU Collaborators Diffuse alveolar hemorrhage in children with interstitial lung disease Determine etiologies! *Pediatr Pulmonol*, 2023; **58(4)**:1106-1121 [PMID:36588100](https://pubmed.ncbi.nlm.nih.gov/36588100/){:target="_blank"} -41. Reese JT, **Blau H**, Casiraghi E, Bergquist T, Loomba JJ, Callahan TJ, Laraway B, Antonescu C, Coleman B, Gargano M, Wilkins KJ, Cappelletti L, Fontana T, Ammar N, Antony B, Murali TM, Caufield JH, **Karlebach G**, McMurry JA, Williams A, Moffitt R, Banerjee J, Solomonides AE, Davis H, Kostka K, Valentini G, Sahner D, Chute CG, Madlock-Brown C, Haendel MA, Robinson PN; N3C Consortium; RECOVER Consortium +42. Reese JT, **Blau H**, Casiraghi E, Bergquist T, Loomba JJ, Callahan TJ, Laraway B, Antonescu C, Coleman B, Gargano M, Wilkins KJ, Cappelletti L, Fontana T, Ammar N, Antony B, Murali TM, Caufield JH, **Karlebach G**, McMurry JA, Williams A, Moffitt R, Banerjee J, Solomonides AE, Davis H, Kostka K, Valentini G, Sahner D, Chute CG, Madlock-Brown C, Haendel MA, Robinson PN; N3C Consortium; RECOVER Consortium Generalisable long COVID subtypes findings from the NIH N3C and RECOVER programmes *EBioMedicine*, 2023; **87**:104413 [PMID:36563487](https://pubmed.ncbi.nlm.nih.gov/36563487/){:target="_blank"} ## 2022 Publications -42. Chan LE, Casiraghi E, Laraway B, Coleman B, **Blau H**, Zaman A, Harris NL, Wilkins K, Antony B, Gargano M, Valentini G, Sahner D, Haendel M, **Robinson PN**, Bramante C, Reese J; N3C consortium +43. Chan LE, Casiraghi E, Laraway B, Coleman B, **Blau H**, Zaman A, Harris NL, Wilkins K, Antony B, Gargano M, Valentini G, Sahner D, Haendel M, **Robinson PN**, Bramante C, Reese J; N3C consortium Metformin is associated with reduced COVID-19 severity in patients with prediabetes *Diabetes Res Clin Pract*, 2022; **194**:110157 [PMID:36400170](https://pubmed.ncbi.nlm.nih.gov/36400170/){:target="_blank"} -43. Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley A, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I +44. Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley A, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita *Am J Hum Genet*, 2022; **109**:1472-1483 [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -44. Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Gouveia Silva R, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, **Robinson PN** +45. Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Gouveia Silva R, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, **Robinson PN** Prenatal phenotyping a community effort to enhance the Human Phenotype Ontology *Am J Med Genet C*, 2022; **190(2)**:231-242 [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -45. Ladewig MS, Jacobsen JOB, Wagner AH, **Danis D**, El Kassaby B, Gargano M, Groza T, Baudis M, Steinhaus R, Seelow D, Bechrakis NE, Mungall CJ, Schofield PN, Elemento O, Smith L, McMurry JA, Munoz-Torres M, Haendel MA, **Robinson PN** +46. Ladewig MS, Jacobsen JOB, Wagner AH, **Danis D**, El Kassaby B, Gargano M, Groza T, Baudis M, Steinhaus R, Seelow D, Bechrakis NE, Mungall CJ, Schofield PN, Elemento O, Smith L, McMurry JA, Munoz-Torres M, Haendel MA, **Robinson PN** GA4GH Phenopackets A practical introduction *Adv Genet (Hoboken)*, 2022; **4**:2200016 [PMID:36910590](https://pubmed.ncbi.nlm.nih.gov/36910590/){:target="_blank"} -46. **Robinson PN**, Graessner H +47. **Robinson PN**, Graessner H Datenstandards für Seltene Erkrankungen *Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz*, 2022; **65(11)**:1126-1132 [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -47. Petrini A, Notaro M, Gliozzo J, Castrignan{\`o} T, **Robinson PN**, Casiraghi E, Valentini G +48. Petrini A, Notaro M, Gliozzo J, Castrignan{\`o} T, **Robinson PN**, Casiraghi E, Valentini G ParSMURF-NG A Machine Learning High Performance Computing System for the Analysis of Imbalanced Big Omics Data *Artificial Intelligence Applications and Innovations. AIAI 2022 IFIP WG 12.5 International Workshops*, 2022; **n/a**:424-435 [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -48. Steinhaus R, **Robinson PN**, Seelow D +49. Steinhaus R, **Robinson PN**, Seelow D FABIAN-variant predicting the effects of DNA variants on transcription factor binding *Nucleic Acids Res*, 2022; **50(W1)**:W322-W329 [PMID:35639768](https://pubmed.ncbi.nlm.nih.gov/35639768/){:target="_blank"} -49. Jacobsen JOB, Kelly C, Cipriani V, **Robinson PN**, Smedley D +50. Jacobsen JOB, Kelly C, Cipriani V, **Robinson PN**, Smedley D Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases *Brief Bioinform*, 2022; **38(12)**:1271-1283 [PMID:35595299](https://pubmed.ncbi.nlm.nih.gov/35595299/){:target="_blank"} -50. Steinhaus R, Proft S, Seelow E, Schalau T, **Robinson PN**, Seelow D +51. Steinhaus R, Proft S, Seelow E, Schalau T, **Robinson PN**, Seelow D Deep phenotyping symptom annotation made simple with SAMS *Nucleic Acids Res*, 2022; **50(W1)**:W677-W681 [PMID:35524573](https://pubmed.ncbi.nlm.nih.gov/35524573/){:target="_blank"} -51. Koc S, Lloyd MW, Grover JW, Xiao N, Seepo S, Subramanian SL, Ray M, Frech C, DiGiovanna J, Webster P, Neuhauser S, Srivastava A, Woo XY, Sanderson BJ, White B, Lott P, Dobrolecki LE, Dowst H; PDXNet Consortium, Evrard YA, Wallace TA, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Chen MS, Carvajal-Carmona L, Welm AL, Welm BE, Lewis MT, Govindan R, Ding L, Li S, Herlyn M, Davies MA, Roth J, Meric-Bernstam F, **Robinson PN**, Bult CJ, Davis-Dusenbery B, Dean DA 2nd, Chuang JH +52. Koc S, Lloyd MW, Grover JW, Xiao N, Seepo S, Subramanian SL, Ray M, Frech C, DiGiovanna J, Webster P, Neuhauser S, Srivastava A, Woo XY, Sanderson BJ, White B, Lott P, Dobrolecki LE, Dowst H; PDXNet Consortium, Evrard YA, Wallace TA, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Chen MS, Carvajal-Carmona L, Welm AL, Welm BE, Lewis MT, Govindan R, Ding L, Li S, Herlyn M, Davies MA, Roth J, Meric-Bernstam F, **Robinson PN**, Bult CJ, Davis-Dusenbery B, Dean DA 2nd, Chuang JH PDXNet portal patient-derived Xenograft model, data, workflow and tool discovery *NAR Cancer*, 2022; **4**:zcac014 [PMID:35475145](https://pubmed.ncbi.nlm.nih.gov/35475145/){:target="_blank"} -52. Chin HL, Gazzaz N, Huynh S, Handra I, Warnock L, Moller-Hansen A, Boerkoel P, Jacobsen JOB, du Souich C, Zhang N, Shefchek K, Prentice LM, Washington N, Haendel M, Armstrong L, Clarke L, Li WL, Smedley D, **Robinson PN**, Boerkoel CF +53. Chin HL, Gazzaz N, Huynh S, Handra I, Warnock L, Moller-Hansen A, Boerkoel P, Jacobsen JOB, du Souich C, Zhang N, Shefchek K, Prentice LM, Washington N, Haendel M, Armstrong L, Clarke L, Li WL, Smedley D, **Robinson PN**, Boerkoel CF The Clinical Variant Analysis Tool Analyzing the evidence supporting reported genomic variation in clinical practice *Genet Med*, 2022; **24(7)**:1512-1522 [PMID:35442193](https://pubmed.ncbi.nlm.nih.gov/35442193/){:target="_blank"} -53. Coleman B, Casiraghi E, **Blau H**, Chan L, Haendel M, Laraway B, Callahan TJ, Deer RR, Wilkins K, Reese J, **Robinson PN**, +54. Coleman B, Casiraghi E, **Blau H**, Chan L, Haendel M, Laraway B, Callahan TJ, Deer RR, Wilkins K, Reese J, **Robinson PN**, Risk of new-onset psychiatric sequelae of COVID-19 in the early and late post-acute phase *World Psychiatry*, 2022; **21**:319-320 [PMID:35524622](https://pubmed.ncbi.nlm.nih.gov/35524622/){:target="_blank"} -54. Yan S, Luo L, Lai PT, Veltri D, Oler AJ, Xirasagar S, Ghosh R, Similuk M, **Robinson PN**, Lu Z +55. Yan S, Luo L, Lai PT, Veltri D, Oler AJ, Xirasagar S, Ghosh R, Similuk M, **Robinson PN**, Lu Z PhenoRerank A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology *J Biomed Inform*, 2022; **129**:104059 [PMID:35351638](https://pubmed.ncbi.nlm.nih.gov/35351638/){:target="_blank"} -55. Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, **Danis D**, Elemento O, Essenwanger A, Freimuth RR, **Gargano MA**, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, **Krawitz PM**, **Köhler S**, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C; GAGH Phenopacket Modeling Consortium, Haendel MA, **Robinson PN** +56. Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, **Danis D**, Elemento O, Essenwanger A, Freimuth RR, **Gargano MA**, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, **Krawitz PM**, **Köhler S**, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C; GAGH Phenopacket Modeling Consortium, Haendel MA, **Robinson PN** The GA4GH Phenopacket schema A computable representation of clinical data for precision medicine *Nat Biotechnol*, 2022; **40(6)**:817-820 [PMID:35705716](https://pubmed.ncbi.nlm.nih.gov/35705716/){:target="_blank"} -56. Reese JT, Coleman B, Chan L, **Blau H**, Callahan TJ, Cappelletti L, Fontana T, Bradwell KR, Harris NL, Casiraghi E, Valentini G, **Karlebach G**, Deer R, McMurry JA, Haendel MA, Chute CG, Pfaff E, Moffitt R, Spratt H, Singh J, Mungall CJ, Williams AE, **Robinson PN**, +57. Reese JT, Coleman B, Chan L, **Blau H**, Callahan TJ, Cappelletti L, Fontana T, Bradwell KR, Harris NL, Casiraghi E, Valentini G, **Karlebach G**, Deer R, McMurry JA, Haendel MA, Chute CG, Pfaff E, Moffitt R, Spratt H, Singh J, Mungall CJ, Williams AE, **Robinson PN**, NSAID use and clinical outcomes in COVID-19 patients A 38-center retrospective cohort study *Virol J*, 2022; **19**:84 [PMID:35570298](https://pubmed.ncbi.nlm.nih.gov/35570298/){:target="_blank"} -57. **Danis D**, Jacobsen JOB, Balachandran P, Zhu Q, Yilmaz F, Reese J, Haimel M, Lyon GJ, Helbig I, Mungall CJ, Beck C, Lee C, Smedley D, **Robinson PN**, +58. **Danis D**, Jacobsen JOB, Balachandran P, Zhu Q, Yilmaz F, Reese J, Haimel M, Lyon GJ, Helbig I, Mungall CJ, Beck C, Lee C, Smedley D, **Robinson PN**, SvAnna efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing *Genome Med*, 2022; **14**:44 [PMID:35484572](https://pubmed.ncbi.nlm.nih.gov/35484572/){:target="_blank"} -58. Laurie S, Piscia D, Matalonga L, Corvo A, Garcia C, Fernandez-Callejo M, Hernandez C, Luengo C, Ntalis AP, Protassio J, Martinez I, Pico D, Thompson R, Tonda R, Bayes M, Bullich G, Camps J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske O, Cañada A, Fernandez JM, Hansson M, Horvath R, Jacobsen J, Kaliyaperumal R, Lair S, Licata L, Lopes P, López-Martin E, Mascalzoni D, Monaco L, Jurado LP, Posada M, Rambla J, Rath A, Riess O, Robinson P, Smedley D, Spalding DJ, 't Hoen PB, Töpf A, Zaharieva I, Graessner H, Gut I, Lochmüller H, Beltran S +59. Laurie S, Piscia D, Matalonga L, Corvo A, Garcia C, Fernandez-Callejo M, Hernandez C, Luengo C, Ntalis AP, Protassio J, Martinez I, Pico D, Thompson R, Tonda R, Bayes M, Bullich G, Camps J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske O, Cañada A, Fernandez JM, Hansson M, Horvath R, Jacobsen J, Kaliyaperumal R, Lair S, Licata L, Lopes P, López-Martin E, Mascalzoni D, Monaco L, Jurado LP, Posada M, Rambla J, Rath A, Riess O, Robinson P, Smedley D, Spalding DJ, 't Hoen PB, Töpf A, Zaharieva I, Graessner H, Gut I, Lochmüller H, Beltran S The RD-Connect Genome-Phenome Analysis Platform Accelerating diagnosis, research, and gene discovery for rare diseases *Hum Mutat*, 2022; **43(6)**:717-733 [PMID:35178824](https://pubmed.ncbi.nlm.nih.gov/35178824/){:target="_blank"} -59. **Karlebach G**, Aronow B, Baylin SB, Butler D, Foox J, Levy S, Meydan C, Mozsary C, Saravia-Butler AM, Taylor DM, Wurtele E, Mason CE, Beheshti A, **Robinson PN** +60. **Karlebach G**, Aronow B, Baylin SB, Butler D, Foox J, Levy S, Meydan C, Mozsary C, Saravia-Butler AM, Taylor DM, Wurtele E, Mason CE, Beheshti A, **Robinson PN** Betacoronavirus-specific alternate splicing *Genomics*, 2022; **114**:110270 [PMID:35074468](https://pubmed.ncbi.nlm.nih.gov/35074468/){:target="_blank"} ## 2021 Publications -60. Chan LE, Thessen AE, Duncan WD, Matentzoglu N, Schmitt C, Grondin CJ, Vasilevsky N, McMurry JA, **Robinson PN**, Mungall CJ, Haendel MA +61. Chan LE, Thessen AE, Duncan WD, Matentzoglu N, Schmitt C, Grondin CJ, Vasilevsky N, McMurry JA, **Robinson PN**, Mungall CJ, Haendel MA The Environmental Conditions, Treatments, and Exposures Ontology (ECTO) connecting toxicology and exposure to human health and beyond *J Biomed Semantics*, 2021; **14**:3 [PMID:36823605](https://pubmed.ncbi.nlm.nih.gov/36823605/){:target="_blank"} -61. Ajami N, Kerachian MA, Toosi MB, Ashrafzadeh F, Hosseini S, **Robinson PN**, Abbaszadegan MR +62. Ajami N, Kerachian MA, Toosi MB, Ashrafzadeh F, Hosseini S, **Robinson PN**, Abbaszadegan MR Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay Phenotypic matching of involved genes *J Cell Mol Med*, 2021; **27**:496-505 [PMID:36691971](https://pubmed.ncbi.nlm.nih.gov/36691971/){:target="_blank"} -62. Scarabelli A, Zilocchi M, Casiraghi E, Fasani P, Plensich GG, Esposito AA, Stellato E, Petrini A, Reese J, Robinson P, Valentini G, Carrafiello G +63. Scarabelli A, Zilocchi M, Casiraghi E, Fasani P, Plensich GG, Esposito AA, Stellato E, Petrini A, Reese J, Robinson P, Valentini G, Carrafiello G Abdominal Computed Tomography Imaging Findings in Hospitalized COVID-19 Patients A Year-Long Experience and Associations Revealed by Explainable Artificial Intelligence *J Imaging*, 2021; **7(12)**:258 [PMID:34940725](https://pubmed.ncbi.nlm.nih.gov/34940725/){:target="_blank"} -63. Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, Cline M, Griffith M, Griffith OL, Hunt SE, Kreda D, Lee JM, Li S, Lopez J, Moyer E, Nelson T, Patel RY, Riehle K, **Robinson PN**, Rynearson S, Schuilenburg H, Tsukanov K, Walsh B, Konopko M, Rehm HL, Yates AD, Freimuth RR, Hart RK +64. Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, Cline M, Griffith M, Griffith OL, Hunt SE, Kreda D, Lee JM, Li S, Lopez J, Moyer E, Nelson T, Patel RY, Riehle K, **Robinson PN**, Rynearson S, Schuilenburg H, Tsukanov K, Walsh B, Konopko M, Rehm HL, Yates AD, Freimuth RR, Hart RK The GA4GH Variation Representation Specification A computational framework for variation representation and federated identification *Cell Genom*, 2021; **1(2)**:100027 [PMID:35311178](https://pubmed.ncbi.nlm.nih.gov/35311178/){:target="_blank"} -64. Casiraghi E, Malchiodi D, Trucco G, Frasca M, Cappelletti L, Fontana T, Esposito AA, Avola E, Jachetti A, Reese J, Rizzi A, **Robinson PN**, Valentini G +65. Casiraghi E, Malchiodi D, Trucco G, Frasca M, Cappelletti L, Fontana T, Esposito AA, Avola E, Jachetti A, Reese J, Rizzi A, **Robinson PN**, Valentini G Explainable Machine Learning for Early Assessment of COVID-19 Risk Prediction in Emergency Departments *IEEE Access*, 2021; **8**:196299-196325 [PMID:34812365](https://pubmed.ncbi.nlm.nih.gov/34812365/){:target="_blank"} -65. Deer RR, Rock MA, Vasilevsky N, **Carmody L**, Rando H, Anzalone AJ, Basson MD, Bennett TD, Bergquist T, Boudreau EA, Bramante CT, Byrd JB, Callahan TJ, Chan LE, Chu H, Chute CG, **Coleman BD**, Davis HE, Gagnier J, Greene CS, Hillegass WB, Kavuluru R, Kimble WD, Koraishy FM, **Köhler S**, Liang C, Liu F, Liu H, Madhira V, Madlock-Brown CR, Matentzoglu N, Mazzotti DR, McMurry JA, McNair DS, Moffitt RA, Monteith TS, Parker AM, Perry MA, Pfaff E, Reese JT, Saltz J, Schuff RA, Solomonides AE, Solway J, Spratt H, Stein GS, Sule AA, Topaloglu U, Vavougios GD, Wang L, Haendel MA, **Robinson PN** +66. Deer RR, Rock MA, Vasilevsky N, **Carmody L**, Rando H, Anzalone AJ, Basson MD, Bennett TD, Bergquist T, Boudreau EA, Bramante CT, Byrd JB, Callahan TJ, Chan LE, Chu H, Chute CG, **Coleman BD**, Davis HE, Gagnier J, Greene CS, Hillegass WB, Kavuluru R, Kimble WD, Koraishy FM, **Köhler S**, Liang C, Liu F, Liu H, Madhira V, Madlock-Brown CR, Matentzoglu N, Mazzotti DR, McMurry JA, McNair DS, Moffitt RA, Monteith TS, Parker AM, Perry MA, Pfaff E, Reese JT, Saltz J, Schuff RA, Solomonides AE, Solway J, Spratt H, Stein GS, Sule AA, Topaloglu U, Vavougios GD, Wang L, Haendel MA, **Robinson PN** Characterizing Long COVID Deep Phenotype of a Complex Condition *EBioMedicine*, 2021; **74**:103722 [PMID:34839263](https://pubmed.ncbi.nlm.nih.gov/34839263/){:target="_blank"} -66. **Ravanmehr V**, **Blau H**, Cappelletti L, Fontana T, **Carmody L**, Coleman B, George J, Reese J, Joachimiak M, Bocci G, **Hansen P**, Bult C, Rueter J, Casiraghi E, Valentini G, Mungall C, Oprea TI, **Robinson PN** +67. **Ravanmehr V**, **Blau H**, Cappelletti L, Fontana T, **Carmody L**, Coleman B, George J, Reese J, Joachimiak M, Bocci G, **Hansen P**, Bult C, Rueter J, Casiraghi E, Valentini G, Mungall C, Oprea TI, **Robinson PN** Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer *NAR Genom Bioinform*, 2021; **3**:lqab113 [PMID:34888523](https://pubmed.ncbi.nlm.nih.gov/34888523/){:target="_blank"} -67. Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen R, Li S, Lin MF, Linden M, Liu X, Udara Liyanage I, Lopez J, Lucassen AM, Lukowski M, Mann AL, Marshall J, Mattioni M, Metke-Jimenez A, Middleton A, Milne RJ, Molnár-Gábor F, Mulder N, Munoz-Torres MC, Nag R, Nakagawa H, Nasir J, Navarro A, Nelson TH, Niewielska A, Nisselle A, Niu J, Nyrönen TH, O'Connor BD, Oesterle S, Ogishima S, Wang VO, Paglione LAD, Palumbo E, Parkinson HE, Philippakis AA, Pizarro AD, Prlic A, Rambla J, Rendon A, Rider RA, **Robinson PN**, Rodarmer KW, Rodriguez LL, Rubin AF, Rueda M, Rushton GA, Ryan RS, Saunders GI, Schuilenburg H, Schwede T, Scollen S, Senf A, Sheffield NC, Skantharajah N, Smith AV, Sofia HJ, Spalding D, Spurdle AB, Stark Z, Stein LD, Suematsu M, Tan P, Tedds JA, Thomson AA, Thorogood A, Tickle TL, Tokunaga K, Törnroos J, Torrents D, Upchurch S, Valencia A, Guimera RV, Vamathevan J, Varma S, Vears DF, Viner C, Voisin C, Wagner AH, Wallace SE, Walsh BP, Williams MS, Winkler EC, Wold BJ, Wood GM, Woolley JP, Yamasaki C, Yates AD, Yung CK, Zass LJ, Zaytseva K, Zhang J, Goodhand P, North K, Birney E +68. Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen R, Li S, Lin MF, Linden M, Liu X, Udara Liyanage I, Lopez J, Lucassen AM, Lukowski M, Mann AL, Marshall J, Mattioni M, Metke-Jimenez A, Middleton A, Milne RJ, Molnár-Gábor F, Mulder N, Munoz-Torres MC, Nag R, Nakagawa H, Nasir J, Navarro A, Nelson TH, Niewielska A, Nisselle A, Niu J, Nyrönen TH, O'Connor BD, Oesterle S, Ogishima S, Wang VO, Paglione LAD, Palumbo E, Parkinson HE, Philippakis AA, Pizarro AD, Prlic A, Rambla J, Rendon A, Rider RA, **Robinson PN**, Rodarmer KW, Rodriguez LL, Rubin AF, Rueda M, Rushton GA, Ryan RS, Saunders GI, Schuilenburg H, Schwede T, Scollen S, Senf A, Sheffield NC, Skantharajah N, Smith AV, Sofia HJ, Spalding D, Spurdle AB, Stark Z, Stein LD, Suematsu M, Tan P, Tedds JA, Thomson AA, Thorogood A, Tickle TL, Tokunaga K, Törnroos J, Torrents D, Upchurch S, Valencia A, Guimera RV, Vamathevan J, Varma S, Vears DF, Viner C, Voisin C, Wagner AH, Wallace SE, Walsh BP, Williams MS, Winkler EC, Wold BJ, Wood GM, Woolley JP, Yamasaki C, Yates AD, Yung CK, Zass LJ, Zaytseva K, Zhang J, Goodhand P, North K, Birney E GA4GH International policies and standards for data sharing across genomic research and healthcare *Cell Genom*, 2021; **1**:100029 [PMID:35072136](https://pubmed.ncbi.nlm.nih.gov/35072136/){:target="_blank"} -68. 100, 000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, **Robinson PN**, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M +69. 100, 000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, **Robinson PN**, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report *N Engl J Med*, 2021; **385(20)**:1868-1880 [PMID:34758253](https://pubmed.ncbi.nlm.nih.gov/34758253/){:target="_blank"} -69. Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, **Robinson PN**, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA +70. Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, **Robinson PN**, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA Response to Biesecker et al. *Am J Hum Genet*, 2021; **108(9)**:1807-1808 [PMID:34478655](https://pubmed.ncbi.nlm.nih.gov/34478655/){:target="_blank"} -70. **Danis D**, Jacobsen JOB, Carmody LC, **Gargano MA**, McMurry JA, Hegde A, Haendel MA, Valentini G, Smedley D, **Robinson PN** +71. **Danis D**, Jacobsen JOB, Carmody LC, **Gargano MA**, McMurry JA, Hegde A, Haendel MA, Valentini G, Smedley D, **Robinson PN** Interpretable prioritization of splice variants in diagnostic next-generation sequencing *Am J Hum Genet*, 2021; **108**:1564-1577 [PMID:34289339](https://pubmed.ncbi.nlm.nih.gov/34289339/){:target="_blank"} -71. Notaro M, Frasca M, Petrini A, Gliozzo J, Casiraghi E, **Robinson PN**, Valentini G +72. Notaro M, Frasca M, Petrini A, Gliozzo J, Casiraghi E, **Robinson PN**, Valentini G HEMDAG a family of modular and scalable hierarchical ensemble methods to improve Gene Ontology term prediction *Bioinformatics*, 2021; **37**:4526-4533 [PMID:34240108](https://pubmed.ncbi.nlm.nih.gov/34240108/){:target="_blank"} -72. Dahlet T, Truss M, Frede U, Al Adhami H, Bardet AF, Dumas M, Vallet J, Chicher J, Hammann P, Kottnik S, **Hansen P**, Luz U, Alvarez G, Auclair G, Hecht J, **Robinson PN**, Hagemeier C, Weber M +73. Dahlet T, Truss M, Frede U, Al Adhami H, Bardet AF, Dumas M, Vallet J, Chicher J, Hammann P, Kottnik S, **Hansen P**, Luz U, Alvarez G, Auclair G, Hecht J, **Robinson PN**, Hagemeier C, Weber M E2F6 initiates stable epigenetic silencing of germline genes during embryonic development *Nat Commun*, 2021; **12**:3582 [PMID:34117224](https://pubmed.ncbi.nlm.nih.gov/34117224/){:target="_blank"} -73. Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, **Robinson PN**, van Gijn M, Boztug K +74. Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, **Robinson PN**, van Gijn M, Boztug K Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity *J Allergy Clin Immunol*, 2021; **Online ahead of print.**:S0091-6749(21)00732-6 [PMID:33991581](https://pubmed.ncbi.nlm.nih.gov/33991581/){:target="_blank"} -74. Dahlet T, Truss M, Frede U, Al Adhami H, Bardet AF, Dumas M, Vallet J, Chicher J, Hammann P, Kottnik S, **Hansen P**, Luz U, Alvarez G, Auclair G, Hecht J, **Robinson PN**, Hagemeier C, Weber M +75. Dahlet T, Truss M, Frede U, Al Adhami H, Bardet AF, Dumas M, Vallet J, Chicher J, Hammann P, Kottnik S, **Hansen P**, Luz U, Alvarez G, Auclair G, Hecht J, **Robinson PN**, Hagemeier C, Weber M E2F6 initiates stable epigenetic silencing of germline genes during embryonic development *Nat Commun*, 2021; **12**:3582 [PMID:34117224](https://pubmed.ncbi.nlm.nih.gov/34117224/){:target="_blank"} -75. Lewis-Smith D, Galer PD, Balagura G, Kearney H, Ganesan S, Cosico M, O'Brien M, Vaidiswaran P, Krause R, Ellis CA, Thomas RH, **Robinson PN**, Helbig I +76. Lewis-Smith D, Galer PD, Balagura G, Kearney H, Ganesan S, Cosico M, O'Brien M, Vaidiswaran P, Krause R, Ellis CA, Thomas RH, **Robinson PN**, Helbig I Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable *Epilepsia*, 2021; **62**:1293-1305 [PMID:33949685](https://pubmed.ncbi.nlm.nih.gov/33949685/){:target="_blank"} -76. Kulchak Rahm A, Walton NA, Feldman LK, Jenkins C, Jenkins T, Person TN, Peterson J, Reynolds JC, **Robinson PN**, Woltz MA, Williams MS, Segal MM, +77. Kulchak Rahm A, Walton NA, Feldman LK, Jenkins C, Jenkins T, Person TN, Peterson J, Reynolds JC, **Robinson PN**, Woltz MA, Williams MS, Segal MM, User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis *BMJ Health Care Inform*, 2021; **28**:e100331 [PMID:33962988](https://pubmed.ncbi.nlm.nih.gov/33962988/){:target="_blank"} -77. Luo L, Yan S, Lai PT, Veltri D, Oler A, Xirasagar S, Ghosh R, Similuk M, , **Robinson PN**, Lu Z +78. Luo L, Yan S, Lai PT, Veltri D, Oler A, Xirasagar S, Ghosh R, Similuk M, , **Robinson PN**, Lu Z PhenoTagger A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology *Bioinformatics*, 2021; **Jan 20**:btab019 [PMID:33471061](https://pubmed.ncbi.nlm.nih.gov/33471061/){:target="_blank"} -78. Rodríguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, **Robinson PN**, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, **Krawitz PM** +79. Rodríguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, **Robinson PN**, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, **Krawitz PM** A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions *Proc Natl Acad Sci U S A*, 2021; **118**:e2014481118 [PMID:33402532](https://pubmed.ncbi.nlm.nih.gov/33402532/){:target="_blank"} -79. **Köhler S**, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, **Danis D**, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN Robinson PN +80. **Köhler S**, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, **Danis D**, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN Robinson PN The Human Phenotype Ontology in 2021 *Nucleic Acids Res*, 2021; **49(D1)**:D1207-D1217 [PMID:33264411](https://pubmed.ncbi.nlm.nih.gov/33264411/){:target="_blank"} ## 2020 Publications -80. Rubinstein YR, **Robinson PN**, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA +81. Rubinstein YR, **Robinson PN**, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA The case for open science rare diseases *JAMIA Open*, 2020; **3(3)**:472-486 [PMID:33426479](https://pubmed.ncbi.nlm.nih.gov/33426479/){:target="_blank"} -81. Reese JT, Unni D, Callahan TJ, Cappelletti L, **Ravanmehr V**, Carbon S, Shefchek KA, Good BM, Balhoff JP, Fontana T, **Blau H**, Matentzoglu N, Harris NL, Munoz- Torres MC, Haendel MA, **Robinson PN**, Joachimiak MP, Mungall CJ +82. Reese JT, Unni D, Callahan TJ, Cappelletti L, **Ravanmehr V**, Carbon S, Shefchek KA, Good BM, Balhoff JP, Fontana T, **Blau H**, Matentzoglu N, Harris NL, Munoz- Torres MC, Haendel MA, **Robinson PN**, Joachimiak MP, Mungall CJ KG-COVID-19 A Framework to Produce Customized Knowledge Graphs for COVID-19 Response *Patterns (N Y)*, 2020; **2(1)**:100155 [PMID:33196056](https://pubmed.ncbi.nlm.nih.gov/33196056/){:target="_blank"} -82. Ong E, Wang LL, Schaub J, O'Toole JF, Steck B, Rosenberg AZ, Dowd F, Hansen J, Barisoni L, Jain S, de Boer IH, Valerius MT, Waikar SS, Park C, Crawford DC, Alexandrov T, Anderton CR, Stoeckert C, Weng C, Diehl AD, Mungall CJ, Haendel M, **Robinson PN**, Himmelfarb J, Iyengar R, Kretzler M, Mooney S, He Y, Kidney Precision Medicine Project +83. Ong E, Wang LL, Schaub J, O'Toole JF, Steck B, Rosenberg AZ, Dowd F, Hansen J, Barisoni L, Jain S, de Boer IH, Valerius MT, Waikar SS, Park C, Crawford DC, Alexandrov T, Anderton CR, Stoeckert C, Weng C, Diehl AD, Mungall CJ, Haendel M, **Robinson PN**, Himmelfarb J, Iyengar R, Kretzler M, Mooney S, He Y, Kidney Precision Medicine Project Modelling kidney disease using ontology insights from the Kidney Precision Medicine Project *Nat Rev Nephrol*, 2020; **16**:686-696 [PMID:32939051](https://pubmed.ncbi.nlm.nih.gov/32939051/){:target="_blank"} -83. Atalaia A, Thompson R, Corvo A, **Carmody L**, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Rheinard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G +84. Atalaia A, Thompson R, Corvo A, **Carmody L**, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Rheinard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets building a Treatabolome *Orphanet J Rare Dis*, 2020; **15**:206 [PMID:32787960](https://pubmed.ncbi.nlm.nih.gov/32787960/){:target="_blank"} -84. **Robinson PN**, Haendel MA +85. **Robinson PN**, Haendel MA Ontologies, Knowledge Representation, and Machine Learning for Translational Research Recent Contributions *Yearb Med Inform*, 2020; **29**:159-162 [PMID:32823310](https://pubmed.ncbi.nlm.nih.gov/32823310/){:target="_blank"} -85. **Robinson PN**, **Ravanmehr V**, Jacobsen JOB, **Danis D**, Zhang XA, Carmody LC, **Gargano MA**, Thaxton CL; UNC Biocuration Core, **Karlebach G**, Reese J, Holtgrewe M, **Köhler S**, McMurry JA, Haendel MA, Smedley D +86. **Robinson PN**, **Ravanmehr V**, Jacobsen JOB, **Danis D**, Zhang XA, Carmody LC, **Gargano MA**, Thaxton CL; UNC Biocuration Core, **Karlebach G**, Reese J, Holtgrewe M, **Köhler S**, McMurry JA, Haendel MA, Smedley D Interpretable Clinical Genomics with a Likelihood Ratio Paradigm *Am J Hum Genet*, 2020; **107**:403-417 [PMID:32755546](https://pubmed.ncbi.nlm.nih.gov/32755546/){:target="_blank"} -86. **Karlebach G**, **Hansen P**, Veiga DF, Steinhaus R, **Danis D**, Li S, Anczukow O, , **Robinson PN** +87. **Karlebach G**, **Hansen P**, Veiga DF, Steinhaus R, **Danis D**, Li S, Anczukow O, , **Robinson PN** HBA-DEALS accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis *Genome Biol*, 2020; **32660516**:171 [PMID:32660516](https://pubmed.ncbi.nlm.nih.gov/32660516/){:target="_blank"} -87. Petrini A, Mesiti M, **Schubach M**, Frasca M, **Danis D**, Re M, Grossi G, Cappelletti L, Castrignan{\`{o}} T, , **Robinson PN**, Valentini G +88. Petrini A, Mesiti M, **Schubach M**, Frasca M, **Danis D**, Re M, Grossi G, Cappelletti L, Castrignan{\`{o}} T, , **Robinson PN**, Valentini G parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants *Gigascience*, 2020; **9**:giaa052 [PMID:32444882](https://pubmed.ncbi.nlm.nih.gov/32444882/){:target="_blank"} -88. Gasteiger LM, , **Robinson PN**, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID) +89. Gasteiger LM, , **Robinson PN**, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID) Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms *J Allergy Clin Immunol Pract*, 2020; **n/a**: [PMID:32389282](https://pubmed.ncbi.nlm.nih.gov/32389282/){:target="_blank"} -89. Chang WH, Mashouri P, Lozano AX, Johnstone B, Husic M, Olry A, Maiella S, Balci TB, Sawyer SL, **Robinson PN**, Rath A, Brudno M +90. Chang WH, Mashouri P, Lozano AX, Johnstone B, Husic M, Olry A, Maiella S, Balci TB, Sawyer SL, **Robinson PN**, Rath A, Brudno M Phenotate crowdsourcing phenotype annotations as exercises in undergraduate classes *Genet Med*, 2020; **22**:1391-1400 [PMID:32366968](https://pubmed.ncbi.nlm.nih.gov/32366968/){:target="_blank"} -90. Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, **Danis D**, Michaelides M, Webster AR, Moore AT, **Robinson PN**, Jacobsen JOB, Smedley D +91. Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, **Danis D**, Michaelides M, Webster AR, Moore AT, **Robinson PN**, Jacobsen JOB, Smedley D An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization Benchmarking Exomiser on Real Patient Whole-Exome Data *Genes (Basel)*, 2020; **11**:460 [PMID:32340307](https://pubmed.ncbi.nlm.nih.gov/32340307/){:target="_blank"} -91. Steinhaus R, Gonzalez T, Seelow D, **Robinson PN** +92. Steinhaus R, Gonzalez T, Seelow D, **Robinson PN** Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers *Nucleic Acids Res*, 2020; **48**:5306-5317 [PMID:32338759](https://pubmed.ncbi.nlm.nih.gov/32338759/){:target="_blank"} -92. Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxon C, Bocci G, Joachimiak MP, **Köhler S**, , **Robinson PN**, Mungall C, Oprea TI +93. Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxon C, Bocci G, Joachimiak MP, **Köhler S**, , **Robinson PN**, Mungall C, Oprea TI How many rare diseases are there? *Nat Rev Drug Discov*, 2020; **19**:77-78 [PMID:32020066](https://pubmed.ncbi.nlm.nih.gov/32020066/){:target="_blank"} -93. Carmody LC, **Blau H**, **Danis D**, Zhang XA, Gourdine JP, Vasilevsky N, Krawitz P, Thompson MD, **Robinson PN** +94. Carmody LC, **Blau H**, **Danis D**, Zhang XA, Gourdine JP, Vasilevsky N, Krawitz P, Thompson MD, **Robinson PN** Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. *Orphanet J Rare Dis*, 2020; **15**:40 [PMID:32019583](https://pubmed.ncbi.nlm.nih.gov/32019583/){:target="_blank"} -94. Shefchek KA, Harris NL, Gargano M, Matentzoglu N, Unni D, Brush M, Keith D, Conlin T, Vasilevsky N, Zhang XA, Balhoff JP, Babb L, Bello SM, **Blau H**, Bradford Y, Carbon S, **Carmody L**, Chan LE, Cipriani V, Cuzick A, Rocca MD, Dunn N, Essaid S, Fey P, Grove C, Gourdine JP, Hamosh A, Harris M, Helbig I, Hoatlin M, Joachimiak M, Jupp S, Lett KB, Lewis SE, McNamara C, Pendlington ZM, Pilgrim C, Putman T, **Ravanmehr V**, Reese J, Riggs E, Robb S, Roncaglia P, Seager J, Segerdell E, Similuk M, Storm AL, Thaxon C, Thessen A, Jacobsen JOB, McMurry JA, Groza T, **Köhler S**, Smedley D, **Robinson PN**, Mungall CJ, Haendel MA, Munoz-Torres MC, Osumi-Sutherland D +95. Shefchek KA, Harris NL, Gargano M, Matentzoglu N, Unni D, Brush M, Keith D, Conlin T, Vasilevsky N, Zhang XA, Balhoff JP, Babb L, Bello SM, **Blau H**, Bradford Y, Carbon S, **Carmody L**, Chan LE, Cipriani V, Cuzick A, Rocca MD, Dunn N, Essaid S, Fey P, Grove C, Gourdine JP, Hamosh A, Harris M, Helbig I, Hoatlin M, Joachimiak M, Jupp S, Lett KB, Lewis SE, McNamara C, Pendlington ZM, Pilgrim C, Putman T, **Ravanmehr V**, Reese J, Riggs E, Robb S, Roncaglia P, Seager J, Segerdell E, Similuk M, Storm AL, Thaxon C, Thessen A, Jacobsen JOB, McMurry JA, Groza T, **Köhler S**, Smedley D, **Robinson PN**, Mungall CJ, Haendel MA, Munoz-Torres MC, Osumi-Sutherland D The Monarch Initiative in 2019 an integrative data and analytic platform connecting phenotypes to genotypes across species *Nucleic Acids Res*, 2020; **48(D1)**:D704-D715 [PMID:31701156](https://pubmed.ncbi.nlm.nih.gov/31701156/){:target="_blank"} ## 2019 Publications -95. Altinbas L, Bormann N, Lehmann D, Jeuthe S, Wulsten D, Kornak U, **Robinson PN**, Wildemann B, Kararigas G +96. Altinbas L, Bormann N, Lehmann D, Jeuthe S, Wulsten D, Kornak U, **Robinson PN**, Wildemann B, Kararigas G Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences *Int J Mol Sci*, 2019; **20**:pii E6059 [PMID:31805661](https://pubmed.ncbi.nlm.nih.gov/31805661/){:target="_blank"} -96. Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, **Robinson PN**, Dahl{\"{e}}n T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A +97. Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, **Robinson PN**, Dahl{\"{e}}n T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A Estimating heritability and genetic correlations from large health datasets in the absence of genetic data *Nat Commun*, 2019; **10**:5508 [PMID:31796735](https://pubmed.ncbi.nlm.nih.gov/31796735/){:target="_blank"} -97. Gourdine JF, Brush MH, Vasilevsky NA, Shefchek K, **Köhler S**, Matentzoglu N, Munoz-Torres MC, McMurry JA, Zhang XA, **Robinson PN**, Haendel MA +98. Gourdine JF, Brush MH, Vasilevsky NA, Shefchek K, **Köhler S**, Matentzoglu N, Munoz-Torres MC, McMurry JA, Zhang XA, **Robinson PN**, Haendel MA Representing glycophenotypes semantic unification of glycobiology resources for disease discovery *Database (Oxford)*, 2019; **2019**:pii baz114 [PMID:31735951](https://pubmed.ncbi.nlm.nih.gov/31735951/){:target="_blank"} -98. **Köhler S**, Øien NC, Buske OJ, Groza T, Jacobsen JOB, McNamara C, Vasilevsky N, Carmody LC, Gourdine JP, Gargano M, McMurry JA, **Danis D**, Mungall CJ, Smedley D, Haendel M, **Robinson PN** +99. **Köhler S**, Øien NC, Buske OJ, Groza T, Jacobsen JOB, McNamara C, Vasilevsky N, Carmody LC, Gourdine JP, Gargano M, McMurry JA, **Danis D**, Mungall CJ, Smedley D, Haendel M, **Robinson PN** Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. *Curr Protoc Hum Genet*, 2019; **103**:e92 [PMID:31479590](https://pubmed.ncbi.nlm.nih.gov/31479590/){:target="_blank"} -99. Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerov\'{a} V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, **Robinson PN**, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM +100. Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerov\'{a} V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, **Robinson PN**, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM Minerva Consortium. Enabling Global Clinical Collaborations on Identifiable Patient Data The Minerva Initiative *Front Genet*, 2019; **10**:611 [PMID:31417602](https://pubmed.ncbi.nlm.nih.gov/31417602/){:target="_blank"} -100. **Hansen P**, Gargano M, Hecht J, **Ibn-Salem J**, **Karlebach G**, Roehr JT, **Robinson PN** +101. **Hansen P**, Gargano M, Hecht J, **Ibn-Salem J**, **Karlebach G**, Roehr JT, **Robinson PN** Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data *Genes (Basel)*, 2019; **10**:pii E548 [PMID:31323892](https://pubmed.ncbi.nlm.nih.gov/31323892/){:target="_blank"} -101. Hsieh TC, **Mensah MA**, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, **Köhler S**, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, **Ott CE**, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, **Robinson PN**, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, **Schubach M**, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wisniewska M, Wollnik B, Yeung MW, Zhao M, **Zhu N**, Zschocke J, Mundlos S, Horn D, **Krawitz PM** +102. Hsieh TC, **Mensah MA**, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, **Köhler S**, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, **Ott CE**, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, **Robinson PN**, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, **Schubach M**, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wisniewska M, Wollnik B, Yeung MW, Zhao M, **Zhu N**, Zschocke J, Mundlos S, Horn D, **Krawitz PM** PEDIA prioritization of exome data by image analysis *Genet Med*, 2019; **21**:2807-2814 [PMID:31164752](https://pubmed.ncbi.nlm.nih.gov/31164752/){:target="_blank"} -102. Zhang XA, Yates A, Vasilevsky N, Gourdine JP, Callahan TJ, Carmody LC, **Danis D**, Joachimiak MP, **Ravanmehr V**, Pfaff ER, Champion J, Robasky K, Xu H, Fecho K, Walton NA, Zhu RL, Ramsdill J, Mungall CJ, **Köhler S**, Haendel MA, McDonald CJ, Vreeman DJ, Peden DB, Bennett TD, Feinstein JA, Martin B, Stefanski AL, Hunter LE, Chute CG, **Robinson PN** +103. Zhang XA, Yates A, Vasilevsky N, Gourdine JP, Callahan TJ, Carmody LC, **Danis D**, Joachimiak MP, **Ravanmehr V**, Pfaff ER, Champion J, Robasky K, Xu H, Fecho K, Walton NA, Zhu RL, Ramsdill J, Mungall CJ, **Köhler S**, Haendel MA, McDonald CJ, Vreeman DJ, Peden DB, Bennett TD, Feinstein JA, Martin B, Stefanski AL, Hunter LE, Chute CG, **Robinson PN** Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery *NPJ Digit Med*, 2019; **2**:pii 32 [PMID:31119199](https://pubmed.ncbi.nlm.nih.gov/31119199/){:target="_blank"} -103. Ahalt SC, Chute CG, Fecho K, Glusman G, Hadlock J, Taylor CO, Pfaff ER, **Robinson PN**, Solbrig H, Ta C, Tatonetti N, Weng C +104. Ahalt SC, Chute CG, Fecho K, Glusman G, Hadlock J, Taylor CO, Pfaff ER, **Robinson PN**, Solbrig H, Ta C, Tatonetti N, Weng C Biomedical Data Translator Consortium. Clinical Data Sources and Types, Regulatory Constraints, Applications *Clin Transl Sci*, 2019; **12**:329-333 [PMID:31074176](https://pubmed.ncbi.nlm.nih.gov/31074176/){:target="_blank"} -104. **Hansen P**, Ali S, **Blau H**, **Danis D**, Hecht J, Kornak U, Lupiáñez DG, Mundlos S, Steinhaus R, **Robinson PN** +105. **Hansen P**, Ali S, **Blau H**, **Danis D**, Hecht J, Kornak U, Lupiáñez DG, Mundlos S, Steinhaus R, **Robinson PN** GOPHER Generator Of Probes for capture Hi-C Experiments at high Resolution *BMC Genomics*, 2019; **20**:40 [PMID:30642251](https://pubmed.ncbi.nlm.nih.gov/30642251/){:target="_blank"} -105. **Bhushan R**, Altinbas L, **Jäger M**, Zaradzki M, Lehmann D, Timmermann B, Clayton NP, Zhu Y, Kallenbach K, Kararigas G, **Robinson PN** +106. **Bhushan R**, Altinbas L, **Jäger M**, Zaradzki M, Lehmann D, Timmermann B, Clayton NP, Zhu Y, Kallenbach K, Kararigas G, **Robinson PN** An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology *J Cell Mol Med*, 2019; **23**:2526-2535 [PMID:30677223](https://pubmed.ncbi.nlm.nih.gov/30677223/){:target="_blank"} -106. Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, **Robinson PN**, Dollfus H; ERN-EYE Ontology Study Group +107. Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, **Robinson PN**, Dollfus H; ERN-EYE Ontology Study Group An ontological foundation for ocular phenotypes and rare eye diseases *Orphanet J Rare Dis*, 2019; **14**:8 [PMID:30626441](https://pubmed.ncbi.nlm.nih.gov/30626441/){:target="_blank"} -107. Mai K, Li L, Wiegand S, Brachs M, Leupelt V, Ernert A, Kühnen P, Hübner N, Robinson P, Chen W, Krude H, Spranger J +108. Mai K, Li L, Wiegand S, Brachs M, Leupelt V, Ernert A, Kühnen P, Hübner N, Robinson P, Chen W, Krude H, Spranger J An Integrated Understanding of the Molecular Mechanisms of How Adipose Tissue Metabolism Affects Long-term Body *Diabetes*, 2019; **68**:57-65 [PMID:30389745](https://pubmed.ncbi.nlm.nih.gov/30389745/){:target="_blank"} -108. **Köhler S**, **Carmody L**, Vasilevsky N, Jacobsen JOB, **Danis D**, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, **Blau H**, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, **Robinson PN** +109. **Köhler S**, **Carmody L**, Vasilevsky N, Jacobsen JOB, **Danis D**, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, **Blau H**, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, **Robinson PN** Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources *Nucleic Acids Res*, 2019; **47**:D1018–D1027 [PMID:30476213](https://pubmed.ncbi.nlm.nih.gov/30476213/){:target="_blank"} ## 2018 Publications -109. Haendel MA, Chute CG, **Robinson PN** +110. Haendel MA, Chute CG, **Robinson PN** Classification, Ontology, and Precision Medicine *N Engl J Med*, 2018; **379**:1452-1462 [PMID:30304648](https://pubmed.ncbi.nlm.nih.gov/30304648/){:target="_blank"} -110. Khayal LA, **Grünhagen J**, Provazník I, Mundlos S, Kornak U, **Robinson PN**, **Ott CE** +111. Khayal LA, **Grünhagen J**, Provazník I, Mundlos S, Kornak U, **Robinson PN**, **Ott CE** Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses *Bone*, 2018; **113**:29-40 [PMID:29653293](https://pubmed.ncbi.nlm.nih.gov/29653293/){:target="_blank"} -111. Vasilevsky NA, Foster ED, Engelstad ME, **Carmody L**, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, **Robinson PN**, **Köhler S**, Haendel MA +112. Vasilevsky NA, Foster ED, Engelstad ME, **Carmody L**, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, **Robinson PN**, **Köhler S**, Haendel MA Plain-language medical vocabulary for precision diagnosis *Nat Genet*, 2018; **50**:474-476 [PMID:29632381](https://pubmed.ncbi.nlm.nih.gov/29632381/){:target="_blank"} -112. Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, **Köhler S**, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, **Robinson PN**, Rath A +113. Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, **Köhler S**, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, **Robinson PN**, Rath A Harmonising phenomics information for a better interoperability in the rare *Eur J Med Genet*, 2018; **61**:706-714 [PMID:29425702](https://pubmed.ncbi.nlm.nih.gov/29425702/){:target="_blank"} -113. Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, **Schubach M**, Gurovich Y, Fleischer N, **Jäger M**, **Köhler S**, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, **Robinson PN**, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, **Krawitz PM** +114. Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, **Schubach M**, Gurovich Y, Fleischer N, **Jäger M**, **Köhler S**, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, **Robinson PN**, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, **Krawitz PM** Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis *Genome Med*, 2018; **10**:3 [PMID:29310717](https://pubmed.ncbi.nlm.nih.gov/29310717/){:target="_blank"} -114. Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, **Robinson PN**, Dyment DA, Boycott KM +115. Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, **Robinson PN**, Dyment DA, Boycott KM Evaluation of exome filtering techniques for the analysis of clinically relevant genes *Hum Mutat*, 2018; **39**:197-201 [PMID:29193559](https://pubmed.ncbi.nlm.nih.gov/29193559/){:target="_blank"} -115. Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, **Robinson PN**, Dyment DA, Boycott KM +116. Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, **Robinson PN**, Dyment DA, Boycott KM Evaluation of exome filtering techniques for the analysis of clinically relevant genes *Hum Mutat*, 2018; **39**:197-201 [PMID:29193559](https://pubmed.ncbi.nlm.nih.gov/29193559/){:target="_blank"} -116. Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, **Schubach M**, Gurovich Y, Fleischer N, **Jäger M**, **Köhler S**, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, **Robinson PN**, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, **Krawitz PM** +117. Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, **Schubach M**, Gurovich Y, Fleischer N, **Jäger M**, **Köhler S**, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, **Robinson PN**, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, **Krawitz PM** Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis *Genome Med*, 2018; **10**:3 [PMID:29310717](https://pubmed.ncbi.nlm.nih.gov/29310717/){:target="_blank"} ## 2017 Publications -117. Arif R, Zaradzki M, Remes A, Seppelt P, Kunze R, Schröder H, Schwill S, Ensminger SM, **Robinson PN**, Karck M, Müller OJ, Hecker M, Wagner AH, Kallenbach K +118. Arif R, Zaradzki M, Remes A, Seppelt P, Kunze R, Schröder H, Schwill S, Ensminger SM, **Robinson PN**, Karck M, Müller OJ, Hecker M, Wagner AH, Kallenbach K AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome *Mol Ther Nucleic Acids*, 2017; **9**:69-79 [PMID:29246325](https://pubmed.ncbi.nlm.nih.gov/29246325/){:target="_blank"} -118. Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, **Robinson PN**, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS +119. Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, **Robinson PN**, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework *Adv Exp Med Biol*, 2017; **1031**:55-94 [PMID:29214566](https://pubmed.ncbi.nlm.nih.gov/29214566/){:target="_blank"} -119. Notaro M, **Schubach M**, **Robinson PN**, Valentini G +120. Notaro M, **Schubach M**, **Robinson PN**, Valentini G Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods *BMC Bioinformatics*, 2017; **18**:449 [PMID:29025394](https://pubmed.ncbi.nlm.nih.gov/29025394/){:target="_blank"} -120. Gehle P, Goergen B, Pilger D, Ruokonen P, **Robinson PN**, Salchow DJ +121. Gehle P, Goergen B, Pilger D, Ruokonen P, **Robinson PN**, Salchow DJ Biometric and structural ocular manifestations of Marfan syndrome *PLoS One*, 2017; **12**:e0183370 [PMID:28931008](https://pubmed.ncbi.nlm.nih.gov/28931008/){:target="_blank"} -121. Zepeda-Mendoza CJ, **Ibn-Salem J**, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, **Robinson PN**, Morton CC +122. Zepeda-Mendoza CJ, **Ibn-Salem J**, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, **Robinson PN**, Morton CC Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements *Am J Hum Genet*, 2017; **101**:206-217 [PMID:28735859](https://pubmed.ncbi.nlm.nih.gov/28735859/){:target="_blank"} -122. Gehle P, **Robinson PN**, Heinzel F, Edelmann F, Yigitbasi M, Berger F, Falk V, Pieske B, Wellnhofer E +123. Gehle P, **Robinson PN**, Heinzel F, Edelmann F, Yigitbasi M, Berger F, Falk V, Pieske B, Wellnhofer E NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome *Int J Cardiol Heart Vasc*, 2017; **12**:15-20 [PMID:28616536](https://pubmed.ncbi.nlm.nih.gov/28616536/){:target="_blank"} -123. Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, **Robinson PN**, Haendel MA, Zhai RG, Boerkoel CF +124. Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, **Robinson PN**, Haendel MA, Zhai RG, Boerkoel CF Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm The National Institutes of Health Undiagnosed Diseases Program Experience *Front Med (Lausanne)*, 2017; **4**:62 [PMID:28603714](https://pubmed.ncbi.nlm.nih.gov/28603714/){:target="_blank"} -124. **Schubach M**, Re M, **Robinson PN**, Valentini G +125. **Schubach M**, Re M, **Robinson PN**, Valentini G Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants *Sci Rep*, 2017; **7**:2959 [PMID:28592878](https://pubmed.ncbi.nlm.nih.gov/28592878/){:target="_blank"} -125. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, **Robinson PN**, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H +126. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, **Robinson PN**, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases *Am J Hum Genet*, 2017; **100**:695-705 [PMID:28475856](https://pubmed.ncbi.nlm.nih.gov/28475856/){:target="_blank"} -126. **Robinson PN**, +127. **Robinson PN**, Once doesn't count Phenotype-driven gene hunting in cohorts *Hum Mutat*, 2017; **38**:469 [PMID:28425197](https://pubmed.ncbi.nlm.nih.gov/28425197/){:target="_blank"} -127. Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, **Robinson PN**, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C +128. Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, **Robinson PN**, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C Bedside Back to Bench Building Bridges between Basic and Clinical Genomic Research *Cell*, 2017; **169**:6-12 [PMID:28340351](https://pubmed.ncbi.nlm.nih.gov/28340351/){:target="_blank"} -128. **Köhler S**, **Robinson PN** +129. **Köhler S**, **Robinson PN** Genetische Diagnostik seltener Erkrankungen. Integration von Phänotyp- und Genomdaten *Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz*, 2017; **60**:542-549 [PMID:28293716](https://pubmed.ncbi.nlm.nih.gov/28293716/){:target="_blank"} -129. Girdauskas E, **Robinson PN**, von Kodolitsch Y +130. Girdauskas E, **Robinson PN**, von Kodolitsch Y Interpreting Phenotypic Features of Bicuspid Aortic Valve Disease From Simplification to Complexity to Simplicity? *Am J Med*, 2017; **130**:e315-e316 [PMID:28249667](https://pubmed.ncbi.nlm.nih.gov/28249667/){:target="_blank"} -130. **Köhler S**, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, **Zemojtel T**, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, **Robinson PN** +131. **Köhler S**, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, **Zemojtel T**, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, **Robinson PN** The Human Phenotype Ontology in 2017 *Nucleic Acids Res*, 2017; **45**:D865-D876 [PMID:27899602](https://pubmed.ncbi.nlm.nih.gov/27899602/){:target="_blank"} -131. Mungall CJ, McMurry JA, **Köhler S**, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Lewis SE, NguyenXuan J, Shefchek K, Vasilevsky N, Yuan Z, Washington N, Hochheiser H, Groza T, Smedley D, **Robinson PN**, Haendel MA +132. Mungall CJ, McMurry JA, **Köhler S**, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Lewis SE, NguyenXuan J, Shefchek K, Vasilevsky N, Yuan Z, Washington N, Hochheiser H, Groza T, Smedley D, **Robinson PN**, Haendel MA The Monarch Initiative an integrative data and analytic platform connecting phenotypes to genotypes across species *Nucleic Acids Res*, 2017; **45**:D712-D722 [PMID:27899636](https://pubmed.ncbi.nlm.nih.gov/27899636/){:target="_blank"} -132. Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC +133. Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC Nomenclature and definition in asymmetric regional body overgrowth *Am J Med Genet A*, 2017; **173**:1735-1738 [PMID:28475229](https://pubmed.ncbi.nlm.nih.gov/28475229/){:target="_blank"} -133. Penzkofer T, **Jäger M**, Figlerowicz M, Badge R, Mundlos S, **Robinson PN**, **Zemojtel T** +134. Penzkofer T, **Jäger M**, Figlerowicz M, Badge R, Mundlos S, **Robinson PN**, **Zemojtel T** L1Base 2 more retrotransposition-active LINE-1s, more mammalian genomes. *Nucleic Acids Res*, 2017; **45**:D68-D73 [PMID:27924012](https://pubmed.ncbi.nlm.nih.gov/27924012/){:target="_blank"} -134. Jerkovic I, Ibrahim DM, Andrey G, Haas S, **Hansen P**, Janetzki C, González, Navarrete I, **Robinson PN**, Hecht J, Mundlos S +135. Jerkovic I, Ibrahim DM, Andrey G, Haas S, **Hansen P**, Janetzki C, González, Navarrete I, **Robinson PN**, Hecht J, Mundlos S Genome-Wide Binding of Posterior *PLoS Genet*, 2017; **13**:e1006567 [PMID:28103242](https://pubmed.ncbi.nlm.nih.gov/28103242/){:target="_blank"} -135. Girdauskas E, **Robinson PN**, von Kodolitsch Y +136. Girdauskas E, **Robinson PN**, von Kodolitsch Y Interpreting Phenotypic Features of Bicuspid Aortic Valve Disease From Simplification to Complexity to Simplicity? *Am J Med*, 2017; **130(7)**:e315-e31 [PMID:28249667](https://pubmed.ncbi.nlm.nih.gov/28249667/){:target="_blank"} ## 2016 Publications -136. Smedley D, **Schubach M**, Jacobsen JO, **Köhler S**, **Zemojtel T**, Spielmann M, **Jäger M**, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, **Robinson PN** +137. Smedley D, **Schubach M**, Jacobsen JO, **Köhler S**, **Zemojtel T**, Spielmann M, **Jäger M**, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, **Robinson PN** A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease *Am J Hum Genet*, 2016; **99**:595-606 [PMID:27569544](https://pubmed.ncbi.nlm.nih.gov/27569544/){:target="_blank"} -137. **Hansen P**, Hecht J, **Ibn-Salem J**, Menkuec BS, Roskosch S, Truss M, **Robinson PN** +138. **Hansen P**, Hecht J, **Ibn-Salem J**, Menkuec BS, Roskosch S, Truss M, **Robinson PN** Q-nexus a comprehensive and efficient analysis pipeline designed for ChIP-nexus *BMC Genomics*, 2016; **17**:873 [PMID:27814676](https://pubmed.ncbi.nlm.nih.gov/27814676/){:target="_blank"} -138. **Jäger M**, **Schubach M**, **Zemojtel T**, Reinert K, Church DM, **Robinson PN** +139. **Jäger M**, **Schubach M**, **Zemojtel T**, Reinert K, Church DM, **Robinson PN** Alternate-locus aware variant calling in whole genome sequencing *Genome Med*, 2016; **8**:130 [PMID:27964746](https://pubmed.ncbi.nlm.nih.gov/27964746/){:target="_blank"} -139. **Heinrich V**, Kamphans T, Mundlos S, **Robinson PN**, **Krawitz PM** +140. **Heinrich V**, Kamphans T, Mundlos S, **Robinson PN**, **Krawitz PM** A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data *Bioinformatics*, 2016; **33**:72-78 [PMID:27565584](https://pubmed.ncbi.nlm.nih.gov/27565584/){:target="_blank"} -140. Lloyd KC, **Robinson PN**, MacRae CA +141. Lloyd KC, **Robinson PN**, MacRae CA Animal-based studies will be essential for precision medicine *Sci Transl Med*, 2016; **8**:352ed12 [PMID:27535618](https://pubmed.ncbi.nlm.nih.gov/27535618/){:target="_blank"} -141. McMurry JA, **Köhler S**, Washington NL, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Xuan JN, Shefchek K, Vasilevsky NA, Yuan Z, Lewis SE, Hochheiser H, Groza T, Smedley D, **Robinson PN**, Mungall CJ, Haendel MA +142. McMurry JA, **Köhler S**, Washington NL, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Xuan JN, Shefchek K, Vasilevsky NA, Yuan Z, Lewis SE, Hochheiser H, Groza T, Smedley D, **Robinson PN**, Mungall CJ, Haendel MA Navigating the Phenotype *Genetics*, 2016; **203**:1491-1495 [PMID:27516611](https://pubmed.ncbi.nlm.nih.gov/27516611/){:target="_blank"} -142. Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, **Robinson PN**, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, **Krawitz PM** +143. Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, **Robinson PN**, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, **Krawitz PM** Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome *Hum Mutat*, 2016; **37**:737-744 [PMID:27120253](https://pubmed.ncbi.nlm.nih.gov/27120253/){:target="_blank"} -143. Hombach D, Schwarz JM, **Robinson PN**, Schuelke M, Seelow D +144. Hombach D, Schwarz JM, **Robinson PN**, Schuelke M, Seelow D A systematic, large-scale comparison of transcription factor binding site models *BMC Genomics*, 2016; **17**:388 [PMID:27209209](https://pubmed.ncbi.nlm.nih.gov/27209209/){:target="_blank"} -144. Olech EM, **Zemojtel T**, Sowi\'{n}ska-Seidler A, Mundlos S, **Robinson PN**, Karczewski M, Jamsheer A +145. Olech EM, **Zemojtel T**, Sowi\'{n}ska-Seidler A, Mundlos S, **Robinson PN**, Karczewski M, Jamsheer A Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach *Pol J Pathol*, 2016; **67**:78-83 [PMID:27179278](https://pubmed.ncbi.nlm.nih.gov/27179278/){:target="_blank"} -145. Jiang Y, Oron TR, Clark WT, Bankapur AR, D'Andrea D, Lepore R, Funk CS, Kahanda I, Verspoor KM, Ben-Hur A, Koo da CE, Penfold-Brown D, Shasha D, Youngs N, Bonneau R, Lin A, Sahraeian SM, Martelli PL, Profiti G, Casadio R, Cao R, Zhong Z, Cheng J, Altenhoff A, Skunca N, Dessimoz C, Dogan T, Hakala K, Kaewphan S, Mehryary F, Salakoski T, Ginter F, Fang H, Smithers B, Oates M, Gough J, Törönen P, Koskinen P, Holm L, Chen CT, Hsu WL, Bryson K, Cozzetto D, Minneci F, Jones DT, Chapman S, Bkc D, Khan IK, Kihara D, Ofer D, Rappoport N, Stern A, Cibrian-Uhalte E, Denny P, Foulger RE, Hieta R, Legge D, Lovering RC, Magrane M, Melidoni AN, Mutowo-Meullenet P, Pichler K, Shypitsyna A, Li B, Zakeri P, ElShal S, Tranchevent LC, Das S, Dawson NL, Lee D, Lees JG, Sillitoe I, Bhat P, Nepusz T, Romero AE, Sasidharan R, Yang H, Paccanaro A, Gillis J, Sedeño-Cortés AE, Pavlidis P, Feng S, Cejuela JM, Goldberg T, Hamp T, Richter L, Salamov A, Gabaldon T, Marcet-Houben M, Supek F, Gong Q, Ning W, Zhou Y, Tian W, Falda M, Fontana P, Lavezzo E, Toppo S, Ferrari C, Giollo M, Piovesan D, Tosatto SC, Del Pozo A, Fernández JM, Maietta P, Valencia A, Tress ML, Benso A, Di Carlo S, Politano G, Savino A, Rehman HU, Re M, Mesiti M, Valentini G, Bargsten JW, van Dijk AD, Gemovic B, Glisic S, Perovic V, Veljkovic V, Veljkovic N, Almeida-E-Silva DC, Vencio RZ, Sharan M, Vogel J, Kansakar L, Zhang S, Vucetic S, Wang Z, Sternberg MJ, Wass MN, Huntley RP, Martin MJ, O'Donovan C, **Robinson PN**, Moreau Y, Tramontano A, Babbitt PC, Brenner SE, Linial M, Orengo CA, Rost B, Greene CS, Mooney SD, Friedberg I, Radivojac P +146. Jiang Y, Oron TR, Clark WT, Bankapur AR, D'Andrea D, Lepore R, Funk CS, Kahanda I, Verspoor KM, Ben-Hur A, Koo da CE, Penfold-Brown D, Shasha D, Youngs N, Bonneau R, Lin A, Sahraeian SM, Martelli PL, Profiti G, Casadio R, Cao R, Zhong Z, Cheng J, Altenhoff A, Skunca N, Dessimoz C, Dogan T, Hakala K, Kaewphan S, Mehryary F, Salakoski T, Ginter F, Fang H, Smithers B, Oates M, Gough J, Törönen P, Koskinen P, Holm L, Chen CT, Hsu WL, Bryson K, Cozzetto D, Minneci F, Jones DT, Chapman S, Bkc D, Khan IK, Kihara D, Ofer D, Rappoport N, Stern A, Cibrian-Uhalte E, Denny P, Foulger RE, Hieta R, Legge D, Lovering RC, Magrane M, Melidoni AN, Mutowo-Meullenet P, Pichler K, Shypitsyna A, Li B, Zakeri P, ElShal S, Tranchevent LC, Das S, Dawson NL, Lee D, Lees JG, Sillitoe I, Bhat P, Nepusz T, Romero AE, Sasidharan R, Yang H, Paccanaro A, Gillis J, Sedeño-Cortés AE, Pavlidis P, Feng S, Cejuela JM, Goldberg T, Hamp T, Richter L, Salamov A, Gabaldon T, Marcet-Houben M, Supek F, Gong Q, Ning W, Zhou Y, Tian W, Falda M, Fontana P, Lavezzo E, Toppo S, Ferrari C, Giollo M, Piovesan D, Tosatto SC, Del Pozo A, Fernández JM, Maietta P, Valencia A, Tress ML, Benso A, Di Carlo S, Politano G, Savino A, Rehman HU, Re M, Mesiti M, Valentini G, Bargsten JW, van Dijk AD, Gemovic B, Glisic S, Perovic V, Veljkovic V, Veljkovic N, Almeida-E-Silva DC, Vencio RZ, Sharan M, Vogel J, Kansakar L, Zhang S, Vucetic S, Wang Z, Sternberg MJ, Wass MN, Huntley RP, Martin MJ, O'Donovan C, **Robinson PN**, Moreau Y, Tramontano A, Babbitt PC, Brenner SE, Linial M, Orengo CA, Rost B, Greene CS, Mooney SD, Friedberg I, Radivojac P An expanded evaluation of protein function prediction methods shows an improvement in accuracy *Genome Biol*, 2016; **17**:184 [PMID:27604469](https://pubmed.ncbi.nlm.nih.gov/27604469/){:target="_blank"} -146. Passarge E, **Robinson PN**, Graul-Neumann LM +147. Passarge E, **Robinson PN**, Graul-Neumann LM Marfanoid-progeroid-lipodystrophy syndrome a newly recognized fibrillinopathy *Eur J Hum Genet*, 2016; **24**:1244-1247 [PMID:26860060](https://pubmed.ncbi.nlm.nih.gov/26860060/){:target="_blank"} -147. Seppelt PC, Schwill S, Weymann A, Arif R, Weber A, Zaradzki M, Richter K, Ensminger S, **Robinson PN**, Wagner AH, Karck M, Kallenbach K +148. Seppelt PC, Schwill S, Weymann A, Arif R, Weber A, Zaradzki M, Richter K, Ensminger S, **Robinson PN**, Wagner AH, Karck M, Kallenbach K Loss of Endothelial Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral Gene Therapy *PLoS One*, 2016; **11**:e0148012 [PMID:26840980](https://pubmed.ncbi.nlm.nih.gov/26840980/){:target="_blank"} -148. Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, **Köhler S**, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, **Robinson PN**, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D +149. Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, **Köhler S**, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, **Robinson PN**, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency *Genet Med*, 2016; **18**:608-617 [PMID:26562225](https://pubmed.ncbi.nlm.nih.gov/26562225/){:target="_blank"} -149. Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, **Robinson PN**, Schmidtke J +150. Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, **Robinson PN**, Schmidtke J Clinical utility gene card for Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches *Eur J Hum Genet*, 2016; **24**:146-150 [PMID:26508578](https://pubmed.ncbi.nlm.nih.gov/26508578/){:target="_blank"} -150. Oellrich A, Collier N, Groza T, Rebholz-Schuhmann D, Shah N, Bodenreider O, Boland MR, Georgiev I, Liu H, Livingston K, Luna A, Mallon AM, Manda P, **Robinson PN**, Rustici G, Simon M, Wang L, Winnenburg R, Dumontier M +151. Oellrich A, Collier N, Groza T, Rebholz-Schuhmann D, Shah N, Bodenreider O, Boland MR, Georgiev I, Liu H, Livingston K, Luna A, Mallon AM, Manda P, **Robinson PN**, Rustici G, Simon M, Wang L, Winnenburg R, Dumontier M The digital revolution in phenotyping *Brief Bioinform*, 2016; **17**:819-830 [PMID:26420780](https://pubmed.ncbi.nlm.nih.gov/26420780/){:target="_blank"} ## 2015 Publications -151. von Kodolitsch Y, Bernhardt AM, **Robinson PN**, Kölbel T, Reichenspurner H, Debus S, Detter C +152. von Kodolitsch Y, Bernhardt AM, **Robinson PN**, Kölbel T, Reichenspurner H, Debus S, Detter C Analysis of Strengths, Weaknesses, Opportunities, and Threats as a Tool for Translating Evidence into Individualized Medical Strategies (I-SWOT) *Aorta (Stamford)*, 2015; **3**:98-107 [PMID:27069939](https://pubmed.ncbi.nlm.nih.gov/27069939/){:target="_blank"} -152. Rajab A, Hamza N, Al Harasi S, Al Lawati F, Gibbons U, Al Alawi I, Kobus K, Hassan S, Mahir G, Al Salmi Q, Mons B, Robinson P +153. Rajab A, Hamza N, Al Harasi S, Al Lawati F, Gibbons U, Al Alawi I, Kobus K, Hassan S, Mahir G, Al Salmi Q, Mons B, Robinson P Repository of mutations from Oman The entry point to a national mutation database *F1000Res*, 2015; **4**:891 [PMID:26594346](https://pubmed.ncbi.nlm.nih.gov/26594346/){:target="_blank"} -153. Brookes AJ, **Robinson PN** +154. Brookes AJ, **Robinson PN** Human genotype-phenotype databases aims, challenges and opportunities *Nat Rev Genet*, 2015; **16**:702-15 [PMID:26553330](https://pubmed.ncbi.nlm.nih.gov/26553330/){:target="_blank"} -154. Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, **Krüger U**, **Zemojtel T**, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, **Robinson PN**, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U +155. Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, **Krüger U**, **Zemojtel T**, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, **Robinson PN**, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa *Am J Hum Genet*, 2015; **97**:483-492 [PMID:26320891](https://pubmed.ncbi.nlm.nih.gov/26320891/){:target="_blank"} -155. Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, Harrison AP, Cariaso M, Moran F, Nielsen F, Swan D, Weiss Solís DY, Krawitz P, Schacherer F, Schols P, Yang H, Borry P, Glusman G, **Robinson PN** +156. Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, Harrison AP, Cariaso M, Moran F, Nielsen F, Swan D, Weiss Solís DY, Krawitz P, Schacherer F, Schols P, Yang H, Borry P, Glusman G, **Robinson PN** Crowdsourced direct-to-consumer genomic analysis of a family quartet *BMC Genomics*, 2015; **16**:910 [PMID:26547235](https://pubmed.ncbi.nlm.nih.gov/26547235/){:target="_blank"} -156. Collier N, Groza T, Smedley D, **Robinson PN**, Oellrich A, Rebholz-Schuhmann D +157. Collier N, Groza T, Smedley D, **Robinson PN**, Oellrich A, Rebholz-Schuhmann D PhenoMiner from text to a database of phenotypes associated with OMIM diseases *Database (Oxford)*, 2015; **2015**:pii bav104 [PMID:26507285](https://pubmed.ncbi.nlm.nih.gov/26507285/){:target="_blank"} -157. Mungall CJ, Washington NL, Nguyen-Xuan J, Condit C, Smedley D, **Köhler S**, Groza T, Shefchek K, Hochheiser H, **Robinson PN**, Lewis SE, Haendel MA +158. Mungall CJ, Washington NL, Nguyen-Xuan J, Condit C, Smedley D, **Köhler S**, Groza T, Shefchek K, Hochheiser H, **Robinson PN**, Lewis SE, Haendel MA Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery *Hum Mutat*, 2015; **36**:979-984 [PMID:26269093](https://pubmed.ncbi.nlm.nih.gov/26269093/){:target="_blank"} -158. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, **Robinson PN**, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL +159. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, **Robinson PN**, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL The Matchmaker Exchange A Platform for Rare Disease Gene Discovery *Hum Mutat*, 2015; **36**:915-921 [PMID:26295439](https://pubmed.ncbi.nlm.nih.gov/26295439/){:target="_blank"} -159. Goyal S, **Jäger M**, Robinson PN*, Vanita V* +160. Goyal S, **Jäger M**, Robinson PN*, Vanita V* Confirmation of TTC8 as a Disease Gene for Nonsyndromic Autosomal Recessive Retinitis Pigmentosa (RP51) *Clin Genet*, 2015; **89**:454-460 [PMID:26195043](https://pubmed.ncbi.nlm.nih.gov/26195043/){:target="_blank"} -160. Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, **Robinson PN**, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M +161. Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, **Robinson PN**, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M PhenomeCentral A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases *Hum Mutat*, 2015; **36**:931-940 [PMID:26251998](https://pubmed.ncbi.nlm.nih.gov/26251998/){:target="_blank"} -161. **Zhu N**, **Heinrich V**, Dickhaus T, Hecht J, **Robinson PN**, Mundlos S, Kamphans T, **Krawitz PM** +162. **Zhu N**, **Heinrich V**, Dickhaus T, Hecht J, **Robinson PN**, Mundlos S, Kamphans T, **Krawitz PM** Strategies to improve the performance of rare variant association studies by optimizing the selection of controls *Bioinformatics*, 2015; **31**:3577-83 [PMID:26249812](https://pubmed.ncbi.nlm.nih.gov/26249812/){:target="_blank"} -162. Krawitz P, Buske O, **Zhu N**, Brudno M, **Robinson PN** +163. Krawitz P, Buske O, **Zhu N**, Brudno M, **Robinson PN** The Genomic Birthday Paradox How Much is Enough? *Hum Mutat*, 2015; **36**:989-997 [PMID:26239817](https://pubmed.ncbi.nlm.nih.gov/26239817/){:target="_blank"} -163. **Hansen P**, Hecht J, Ibrahim D, Krannich A, Truss M, **Robinson PN** +164. **Hansen P**, Hecht J, Ibrahim D, Krannich A, Truss M, **Robinson PN** Saturation analysis of ChIP-seq data for reproducible identification of binding peaks *Genome Res*, 2015; **25**:1391-1400 [PMID:26163319](https://pubmed.ncbi.nlm.nih.gov/26163319/){:target="_blank"} -164. von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, **Robinson PN** +165. von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, **Robinson PN** Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome *Appl Clin Genet*, 2015; **8**:137-155 [PMID:26124674](https://pubmed.ncbi.nlm.nih.gov/26124674/){:target="_blank"} -165. Smedley D, Jacobsen JOB, **Jäger M**, **Köhler S**, Holtgrewe M, **Schubach M**, Siragusa E, **Zemojtel T**, Buske O, Bone WP, Haendel MA, **Robinson PN** +166. Smedley D, Jacobsen JOB, **Jäger M**, **Köhler S**, Holtgrewe M, **Schubach M**, Siragusa E, **Zemojtel T**, Buske O, Bone WP, Haendel MA, **Robinson PN** Next-Generation Diagnostics and Disease Gene Discovery with the Exomiser *Nat Protoc*, 2015; **10**:2004-2015 [PMID:26562621](https://pubmed.ncbi.nlm.nih.gov/26562621/){:target="_blank"} -166. Smedley D, **Robinson PN** +167. Smedley D, **Robinson PN** Phenotype-Driven Strategies for Exome Prioritization of Human Mendelian Disease Genes *Genome Medicine*, 2015; **7**:81 [PMID:26229552](https://pubmed.ncbi.nlm.nih.gov/26229552/){:target="_blank"} -167. Yang H, **Robinson PN**, Wang K +168. Yang H, **Robinson PN**, Wang K Phenolyzer phenotype-based prioritization of candidate genes for human diseases *Nat Methods*, 2015; **12**:841-843 [PMID:26192085](https://pubmed.ncbi.nlm.nih.gov/26192085/){:target="_blank"} -168. **Robinson PN**, Mungall CJ, Haendel MA +169. **Robinson PN**, Mungall CJ, Haendel MA Capturing Phenotypes for Precision Medicine *Cold Spring Harbor Molecular Case Studies*, 2015; **1**:a000372 -169. Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, **Köhler S**, Lewis SE, **Robinson PN**, Smedley D +170. Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, **Köhler S**, Lewis SE, **Robinson PN**, Smedley D Disease insights through cross-species phenotype comparisons *Mamm Genome*, 2015; **26**:548-555 [PMID:26092691](https://pubmed.ncbi.nlm.nih.gov/26092691/){:target="_blank"} -170. Flöttmann R, Knaus A, **Zemojtel T**, **Robinson PN**, Mundlos S, Horn D, Spielmann M +171. Flöttmann R, Knaus A, **Zemojtel T**, **Robinson PN**, Mundlos S, Horn D, Spielmann M FGFR2 mutation in a patient without typical features of Pfeiffer syndrome - The emerging role of combined NGS and phenotype based strategies *Eur J Med Genet*, 2015; **58**:376-380 [PMID:26096994](https://pubmed.ncbi.nlm.nih.gov/26096994/){:target="_blank"} -171. Groza T, **Köhler S**, Moldenhauer D, Vasilevsky N, Baynam G, **Zemojtel T**, Schriml LM, Kibbe W, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, Lewis SE, Haendel M, Parkinson H, **Robinson PN** +172. Groza T, **Köhler S**, Moldenhauer D, Vasilevsky N, Baynam G, **Zemojtel T**, Schriml LM, Kibbe W, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, Lewis SE, Haendel M, Parkinson H, **Robinson PN** The Human Phenotype Ontology Semantic unification of common and rare disease *Am J Human Genet*, 2015; **97**:111-124 [PMID:26119816](https://pubmed.ncbi.nlm.nih.gov/26119816/){:target="_blank"} -172. **Kuchenbecker L**, Nienen M, Hecht J, Neumann AU, Babel N, Reinert K, **Robinson PN** +173. **Kuchenbecker L**, Nienen M, Hecht J, Neumann AU, Babel N, Reinert K, **Robinson PN** IMSEQ - a fast and error aware approach to immunogenetic sequence analysis *Bioinformatics*, 2015; **31**:2963-2971 [PMID:25987567](https://pubmed.ncbi.nlm.nih.gov/25987567/){:target="_blank"} -173. Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, **Robinson PN** +174. Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, **Robinson PN** Towards a European consensus for reporting incidental findings during clinical NGS testing *Eur J Hum Genet*, 2015; **23**:1601-6 [PMID:26036857](https://pubmed.ncbi.nlm.nih.gov/26036857/){:target="_blank"} -174. Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SB, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, **Robinson PN**, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K; BRIDGE-BPD Consortium +175. Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SB, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, **Robinson PN**, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K; BRIDGE-BPD Consortium Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders *Genome Med*, 2015; **7**:36 [PMID:25949529](https://pubmed.ncbi.nlm.nih.gov/25949529/){:target="_blank"} -175. Groza T, **Köhler S**, Doelken S, Collier N, Oellrich A, Smedley D, Couto FM, Baynam G, Zankl A, **Robinson PN** +176. Groza T, **Köhler S**, Doelken S, Collier N, Oellrich A, Smedley D, Couto FM, Baynam G, Zankl A, **Robinson PN** Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora *Database (Oxford)*, 2015; **bav005**:1-13 [PMID:25725061](https://pubmed.ncbi.nlm.nih.gov/25725061/){:target="_blank"} -176. Deans AR, Lewis SE, Huala E, Anzaldo SS, Ashburner M, Balhoff JP, Blackburn DC, Blake JA, Burleigh JG, Chanet B, Cooper LD, Courtot M, Csösz S, Cui H, Dahdul W, Das S, Dececchi TA, Dettai A, Diogo R, Druzinsky RE, Dumontier M, Franz NM, Friedrich F, Gkoutos GV, Haendel M, Harmon LJ, Hayamizu TF, He Y, Hines HM, Ibrahim N, Jackson LM, Jaiswal P, James-Zorn C, **Köhler S**, Lecointre G, Lapp H, Lawrence CJ, Le Novére N, Lundberg JG, Macklin J, Mast AR, Midford PE, Mikó I, Mungall CJ, Oellrich A, Osumi-Sutherland D, Parkinson H, Ramírez MJ, Richter S, **Robinson PN**, Ruttenberg A, Schulz KS, Segerdell E, Seltmann KC, Sharkey MJ, Smith AD, Smith B, Specht CD, Squires RB, Thacker RW, Thessen A, Fernandez-Triana J, Vihinen M, Vize PD, Vogt L, Wall CE, Walls RL, Westerfeld M, Wharton RA, Wirkner CS, Woolley JB, Yoder MJ, Zorn AM, Mabee P +177. Deans AR, Lewis SE, Huala E, Anzaldo SS, Ashburner M, Balhoff JP, Blackburn DC, Blake JA, Burleigh JG, Chanet B, Cooper LD, Courtot M, Csösz S, Cui H, Dahdul W, Das S, Dececchi TA, Dettai A, Diogo R, Druzinsky RE, Dumontier M, Franz NM, Friedrich F, Gkoutos GV, Haendel M, Harmon LJ, Hayamizu TF, He Y, Hines HM, Ibrahim N, Jackson LM, Jaiswal P, James-Zorn C, **Köhler S**, Lecointre G, Lapp H, Lawrence CJ, Le Novére N, Lundberg JG, Macklin J, Mast AR, Midford PE, Mikó I, Mungall CJ, Oellrich A, Osumi-Sutherland D, Parkinson H, Ramírez MJ, Richter S, **Robinson PN**, Ruttenberg A, Schulz KS, Segerdell E, Seltmann KC, Sharkey MJ, Smith AD, Smith B, Specht CD, Squires RB, Thacker RW, Thessen A, Fernandez-Triana J, Vihinen M, Vize PD, Vogt L, Wall CE, Walls RL, Westerfeld M, Wharton RA, Wirkner CS, Woolley JB, Yoder MJ, Zorn AM, Mabee P Finding Our Way through Phenotypes *PLoS Biol*, 2015; **13**:e1002033 [PMID:25562316](https://pubmed.ncbi.nlm.nih.gov/25562316/){:target="_blank"} -177. Kagawa T, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Ting W, Tanaka M, Hayashi H, Kawabe N, **Robinson PN**, **Zemojtel T**, Mine T +178. Kagawa T, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Ting W, Tanaka M, Hayashi H, Kawabe N, **Robinson PN**, **Zemojtel T**, Mine T Recessive inheritance of population-specific intronic LINE-1 insertion causes a Rotor syndrome phenotype *Hum Mutat*, 2015; **36**:327-332 [PMID:25546334](https://pubmed.ncbi.nlm.nih.gov/25546334/){:target="_blank"} -178. von Kodolitsch Y, Blankart CR, Vogler M, Kallenbach K, **Robinson PN** +179. von Kodolitsch Y, Blankart CR, Vogler M, Kallenbach K, **Robinson PN** Genetik und Prävention am Beispiel genetischer Aortensyndrome (GAS) und des Marfan-Syndroms [Genetics and prevention of genetic aortic syndromes (GAS) and of the Marfan syndrome.] *Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz*, 2015; **58**:146-53 [PMID:25446311](https://pubmed.ncbi.nlm.nih.gov/25446311/){:target="_blank"} -179. **Grünhagen J**, **Bhushan R**, Degenkolbe E, **Jäger M**, Knaus P, Mundlos S, **Robinson PN**, **Ott CE** +180. **Grünhagen J**, **Bhushan R**, Degenkolbe E, **Jäger M**, Knaus P, Mundlos S, **Robinson PN**, **Ott CE** MiR-497~195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling *J Bone Miner Res*, 2015; **30**:N796-808 [PMID:25407900](https://pubmed.ncbi.nlm.nih.gov/25407900/){:target="_blank"} -180. Emmerich D, **Zemojtel T**, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, **Heinrich V**, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson P, Vingron M, Tinschert S, Mundlos S, Kolanczyk M +181. Emmerich D, **Zemojtel T**, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, **Heinrich V**, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson P, Vingron M, Tinschert S, Mundlos S, Kolanczyk M Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient *Eur J Hum Genet*, 2015; **23**:870-873 [PMID:25293717](https://pubmed.ncbi.nlm.nih.gov/25293717/){:target="_blank"} -181. Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J +182. Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J Phenotyping Targeting genotype's rich cousin for diagnosis *J Paediatr Child Health*, 2015; **51**:381-386 [PMID:25109851](https://pubmed.ncbi.nlm.nih.gov/25109851/){:target="_blank"} -182. Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emerich D, Kobus K, Kornak U, **Robinson PN**, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D +183. Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emerich D, Kobus K, Kornak U, **Robinson PN**, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome *Eur J Med Genet*, 2015; **23**:720 [PMID:24916641](https://pubmed.ncbi.nlm.nih.gov/24916641/){:target="_blank"} ## 2014 Publications -183. Sheikhzadeh S, De Backer J, Gorgan N, Rybczynski M, Hillebrand M, Schüler H, Bernhardt AM, Koschyk D, Bannas P, Keyser B, Mortensen K, Radke RM, Mir TS, Kölbel T, **Robinson PN**, Schmidtke J, Berger J, Blankenberg S, von Kodolitsch Y +184. Sheikhzadeh S, De Backer J, Gorgan N, Rybczynski M, Hillebrand M, Schüler H, Bernhardt AM, Koschyk D, Bannas P, Keyser B, Mortensen K, Radke RM, Mir TS, Kölbel T, **Robinson PN**, Schmidtke J, Berger J, Blankenberg S, von Kodolitsch Y The main pulmonary artery in adults a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome *Orphanet J Rare Dis*, 2014; **9**:203 [PMID:25491897](https://pubmed.ncbi.nlm.nih.gov/25491897/){:target="_blank"} -184. **Mensah MA**, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, **Robinson PN**, Vermeesch JR +185. **Mensah MA**, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, **Robinson PN**, Vermeesch JR Pseudoautosomal region 1 length polymorphism in the human population *PLoS Genet*, 2014; **10**:e1004578 [PMID:25375121](https://pubmed.ncbi.nlm.nih.gov/25375121/){:target="_blank"} -185. **Krawitz PM**, Schiska D, **Krüger U**, Appelt S, **Heinrich V**, Parkhomchuk D, Timmermann B, Millan JM, **Robinson PN**, Mundlos S, Hecht J, Gross M +186. **Krawitz PM**, Schiska D, **Krüger U**, Appelt S, **Heinrich V**, Parkhomchuk D, Timmermann B, Millan JM, **Robinson PN**, Mundlos S, Hecht J, Gross M Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome *Mol Genet Genomic Med*, 2014; **2**:393-401 [PMID:25333064](https://pubmed.ncbi.nlm.nih.gov/25333064/){:target="_blank"} -186. Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, **Krüger U**, Hecht J, Mundlos S, **Robinson PN** +187. Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, **Krüger U**, Hecht J, Mundlos S, **Robinson PN** First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature *Am J Med Genet*, 2014; **164A**:3170-5 [PMID:25331754](https://pubmed.ncbi.nlm.nih.gov/25331754/){:target="_blank"} -187. **Köhler S**, Schoeneberg U, Czeschik JC, **Doelken SC**, Hehir-Kwa JY, **Ibn-Salem J**, Mungall CJ, Smedley D, Haendel MA, **Robinson PN** +188. **Köhler S**, Schoeneberg U, Czeschik JC, **Doelken SC**, Hehir-Kwa JY, **Ibn-Salem J**, Mungall CJ, Smedley D, Haendel MA, **Robinson PN** Clinical interpretation of CNVs with cross-species phenotype data *J Med Genet*, 2014; **51**:766-772 [PMID:25280750](https://pubmed.ncbi.nlm.nih.gov/25280750/){:target="_blank"} -188. **Robinson PN** +189. **Robinson PN** Genomic data sharing for translational research and diagnostics *Genome Medicine*, 2014; **6**:78 [PMID:25473437](https://pubmed.ncbi.nlm.nih.gov/25473437/){:target="_blank"} -189. **Ibn-Salem J**, **Köhler S**, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, **Ott CE**, **Bauer S**, Schofield PN, Mundlos S, Spielmann M, **Robinson PN** +190. **Ibn-Salem J**, **Köhler S**, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, **Ott CE**, **Bauer S**, Schofield PN, Mundlos S, Spielmann M, **Robinson PN** Deletions of chromosomal regulatory boundaries are associated with congenital disease *Genome Biology*, 2014; **15**:423 [PMID:](https://pubmed.ncbi.nlm.nih.gov//){:target="_blank"} -190. **Zemojtel T**, **Köhler S**, Mackenroth L, **Jäger M**, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, **Krüger U**, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, **Robinson PN** +191. **Zemojtel T**, **Köhler S**, Mackenroth L, **Jäger M**, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, **Krüger U**, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, **Robinson PN** Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome *Science Transl Med*, 2014; **6(252)**:A252ra123 [PMID:25186178](https://pubmed.ncbi.nlm.nih.gov/25186178/){:target="_blank"} -191. Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, **Robinson PN**, Berger J, Mir TS, Zeller T, Blankenberg S, von Kodolitsch Y, Goldmann B +192. Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, **Robinson PN**, Berger J, Mir TS, Zeller T, Blankenberg S, von Kodolitsch Y, Goldmann B Total Serum Transforming Growth Factor-$\beta$1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes *Clin Cardiol*, 2014; **37**:672-679 [PMID:25113270](https://pubmed.ncbi.nlm.nih.gov/25113270/){:target="_blank"} -192. Oellrich A, **Koehler S**, Washington N; Sanger Mouse Genetic Project, Mungall C, Lewis S, Haendel M, **Robinson PN**, Smedley D +193. Oellrich A, **Koehler S**, Washington N; Sanger Mouse Genetic Project, Mungall C, Lewis S, Haendel M, **Robinson PN**, Smedley D The influence of disease categories on gene candidate predictions from model organism phenotypes *J Biomed Semantics*, 2014; **5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G)**:S4 [PMID:25093073](https://pubmed.ncbi.nlm.nih.gov/25093073/){:target="_blank"} -193. Smedley D, **Köhler S**, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, **Zemojtel T**, **Robinson PN** +194. Smedley D, **Köhler S**, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, **Zemojtel T**, **Robinson PN** Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases *Bioinformatics*, 2014; **30**:3215-3222 [PMID:25078397](https://pubmed.ncbi.nlm.nih.gov/25078397/){:target="_blank"} -194. Vanita V, **Guo G**, Singh D, **Ott CE**, **Robinson PN** +195. Vanita V, **Guo G**, Singh D, **Ott CE**, **Robinson PN** Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes *Mol Cell Biochem*, 2014; **396**:137-145 [PMID:25064449](https://pubmed.ncbi.nlm.nih.gov/25064449/){:target="_blank"} -195. Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, **Robinson PN**, White PS +196. Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, **Robinson PN**, White PS Clinical phenotype-based gene prioritization an initial study using semantic similarity and the human phenotype ontology *BMC Bioinformatics*, 2014; **15**:248 [PMID:25047600](https://pubmed.ncbi.nlm.nih.gov/25047600/){:target="_blank"} -196. Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, **Robinson PN**, Bushby K, Lochmüller H +197. Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, **Robinson PN**, Bushby K, Lochmüller H RD-Connect An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research. *J Gen Intern Med*, 2014; **29 Suppl 3**:780-789 [PMID:25029978](https://pubmed.ncbi.nlm.nih.gov/25029978/){:target="_blank"} -197. Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, **Robinson PN**, Symoens S, Van Maldergem L, Debray FG +198. Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, **Robinson PN**, Symoens S, Van Maldergem L, Debray FG Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene *Eur J Med Genet*, 2014; **57**:230-234 [PMID:24613577](https://pubmed.ncbi.nlm.nih.gov/24613577/){:target="_blank"} -198. **Jäger M**, Wang K, **Bauer S**, Smedley D, Krawitz P, **Robinson PN** +199. **Jäger M**, Wang K, **Bauer S**, Smedley D, Krawitz P, **Robinson PN** Jannovar A Java Library for Exome Annotation. *Hum Mutat*, 2014; **35**:548-555 [PMID:24677618](https://pubmed.ncbi.nlm.nih.gov/24677618/){:target="_blank"} -199. **Robinson PN**, Webber C +200. **Robinson PN**, Webber C Phenotype Ontologies and Cross-Species Analysis for Translational Research *PLoS Genet*, 2014; **10**:e1004268 [PMID:24699242](https://pubmed.ncbi.nlm.nih.gov/24699242/){:target="_blank"} -200. Jamsheer A, Smigiel R, Jakubiak A, **Zemojtel T**, Socha M, **Robinson PN**, Mundlos S +201. Jamsheer A, Smigiel R, Jakubiak A, **Zemojtel T**, Socha M, **Robinson PN**, Mundlos S Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4/5 *Birth Defects Res A Clin Mol Teratol*, 2014; **100**:314-318 [PMID:24706454](https://pubmed.ncbi.nlm.nih.gov/24706454/){:target="_blank"} -201. Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, **Krüger U**, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, **Robinson PN**, Kini U, Taylor JC, Horn D, Kinoshita T, **Krawitz PM** +202. Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, **Krüger U**, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, **Robinson PN**, Kini U, Taylor JC, Horn D, Kinoshita T, **Krawitz PM** Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation *Am J Hum Genet*, 2014; **94**:278-287 [PMID:24439110](https://pubmed.ncbi.nlm.nih.gov/24439110/){:target="_blank"} -202. Köhler S*, **Doelken SC**, Mungall CJ, **Bauer S**, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AOM, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BBA, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, {\bf Robinson PN*} +203. Köhler S*, **Doelken SC**, Mungall CJ, **Bauer S**, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AOM, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BBA, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, {\bf Robinson PN*} The Human Phenotype Ontology project linking molecular biology and disease through phenotype data *Nucleic Acids Res*, 2014; **42**:D966-74 [PMID:24217912](https://pubmed.ncbi.nlm.nih.gov/24217912/){:target="_blank"} -203. **Robinson PN**, **Köhler S**, Oellrich A, Sanger Mouse Genetics Project, Wang K, Mungall C, Lewis SE, Washington N, **Bauer S**, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D* +204. **Robinson PN**, **Köhler S**, Oellrich A, Sanger Mouse Genetics Project, Wang K, Mungall C, Lewis SE, Washington N, **Bauer S**, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D* Improved exome prioritization of disease genes through cross species phenotype comparison *Genome Res*, 2014; **24**:340-348 [PMID:24162188](https://pubmed.ncbi.nlm.nih.gov/24162188/){:target="_blank"} -204. Horn D, Wieczorek D, Metcalfe K, Bari\'{c} I, Pale\v{z}ac L, Cuk M, Petkovi\'{c} Ramad\v{z}a D, **Krüger U**, Demuth S, Heinritz W, Linden T, Koenig J, **Robinson PN**, Krawitz P +205. Horn D, Wieczorek D, Metcalfe K, Bari\'{c} I, Pale\v{z}ac L, Cuk M, Petkovi\'{c} Ramad\v{z}a D, **Krüger U**, Demuth S, Heinritz W, Linden T, Koenig J, **Robinson PN**, Krawitz P Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome *Eur J Hum Genet*, 2014; **22**:762-767 [PMID:24129430](https://pubmed.ncbi.nlm.nih.gov/24129430/){:target="_blank"} ## 2013 Publications -205. Aydin A, Adsay BA, Sheikhzadeh S, Keyser B, Rybczynski M, Sondermann C, Detter C, Steven D, **Robinson PN**, Berger J, Schmidtke J, Blankenberg S, Willems S, von Kodolitsch Y, Hoffmann BA +206. Aydin A, Adsay BA, Sheikhzadeh S, Keyser B, Rybczynski M, Sondermann C, Detter C, Steven D, **Robinson PN**, Berger J, Schmidtke J, Blankenberg S, Willems S, von Kodolitsch Y, Hoffmann BA Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused byFBN1 Mutations *PLoS One*, 2013; **8**:e81281 [PMID:24349050](https://pubmed.ncbi.nlm.nih.gov/24349050/){:target="_blank"} -206. Smedley D, Oellrich A, **Köhler S**, Ruef B; Sanger Mouse Genetics Project, Westerfield M, Robinson P, Lewis S, Mungall C +207. Smedley D, Oellrich A, **Köhler S**, Ruef B; Sanger Mouse Genetics Project, Westerfield M, Robinson P, Lewis S, Mungall C PhenoDigm analyzing curated annotations to associate animal models with human diseases *Database (Oxford)*, 2013; **bat025**:doi10.1093/database/bat025 [PMID:23660285](https://pubmed.ncbi.nlm.nih.gov/23660285/){:target="_blank"} -207. **Köhler S**, **Doelken SC**, Ruef BJ, **Bauer S**, Washington N, Westerfield M, Gkoutos G, Schofield P, Smedley D, Lewis SE, **Robinson PN**, Mungall CJ +208. **Köhler S**, **Doelken SC**, Ruef BJ, **Bauer S**, Washington N, Westerfield M, Gkoutos G, Schofield P, Smedley D, Lewis SE, **Robinson PN**, Mungall CJ Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research *F1000Res*, 2013; **2**:30 [PMID:24358873](https://pubmed.ncbi.nlm.nih.gov/24358873/){:target="_blank"} -208. **Guo G**, **Ott CE**, **Grünhagen J**, Muñoz-García B, Pletschacher A, Kallenbach K, von Kodolitsch Y, **Robinson PN** +209. **Guo G**, **Ott CE**, **Grünhagen J**, Muñoz-García B, Pletschacher A, Kallenbach K, von Kodolitsch Y, **Robinson PN** Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice *Aorta (Stamford)*, 2013; **1**:5-12 [PMID:26798667](https://pubmed.ncbi.nlm.nih.gov/26798667/){:target="_blank"} -209. **Robinson PN** +210. **Robinson PN** A Systematic Large-scale Phenotypic Analysis of de novo and Inherited Copy Number Variation *Hum Mutat*, 2013; **34**:12 [PMID:24227377](https://pubmed.ncbi.nlm.nih.gov/24227377/){:target="_blank"} -210. Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann CR, Brockstaedt L, Keyser B, Kaemmerer H, Mir T, Staebler A, **Robinson PN**, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y +211. Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann CR, Brockstaedt L, Keyser B, Kaemmerer H, Mir T, Staebler A, **Robinson PN**, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation *Clin Genet*, 2013; **86**:238-245 [PMID:23991918](https://pubmed.ncbi.nlm.nih.gov/23991918/){:target="_blank"} -211. Ibrahim DM, **Hansen P**, **Rödelsperger C**, Stiege AC, **Doelken SC**, Horn D, **Jäger M**, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, **Robinson PN**, Mundlos S, Hecht J +212. Ibrahim DM, **Hansen P**, **Rödelsperger C**, Stiege AC, **Doelken SC**, Horn D, **Jäger M**, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, **Robinson PN**, Mundlos S, Hecht J Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations *Genome Res*, 2013; **23**:2091-102 [PMID:23995701](https://pubmed.ncbi.nlm.nih.gov/23995701/){:target="_blank"} -212. Dziubianau M, Hecht J, **Kuchenbecker L**, Sattler A, Stervbo U, **Rödelsperger C**, Nickel P, Neumann AU, **Robinson PN**, Mundlos S, Volk HD, Thiel A, Reinke P, Babel N +213. Dziubianau M, Hecht J, **Kuchenbecker L**, Sattler A, Stervbo U, **Rödelsperger C**, Nickel P, Neumann AU, **Robinson PN**, Mundlos S, Volk HD, Thiel A, Reinke P, Babel N TCR Repertoire Analysis by Next Generation Sequencing Allows Complex Differential Diagnosis of T Cell-Related Pathology *Am J Transplant*, 2013; **13**:2842-2854 [PMID:24020931](https://pubmed.ncbi.nlm.nih.gov/24020931/){:target="_blank"} -213. Kamphans T, Sabri P, **Zhu N**, **Heinrich V**, Mundlos S, **Robinson PN**, Parkhomchuk D, **Krawitz PM** +214. Kamphans T, Sabri P, **Zhu N**, **Heinrich V**, Mundlos S, **Robinson PN**, Parkhomchuk D, **Krawitz PM** Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees *PLoS One*, 2013; **8**:e70151 [PMID:23940540](https://pubmed.ncbi.nlm.nih.gov/23940540/){:target="_blank"} -214. Grosjean J, Merabti T, Soualmia LF, Letord C, Charlet J, **Robinson PN**, Darmoni SJ +215. Grosjean J, Merabti T, Soualmia LF, Letord C, Charlet J, **Robinson PN**, Darmoni SJ Integrating the Human Phenotype Ontology into HeTOP Terminology-Ontology Server *Stud Health Technol Inform*, 2013; **192**:961 [PMID:23920735](https://pubmed.ncbi.nlm.nih.gov/23920735/){:target="_blank"} -215. **Heinrich V**, Kamphans T, Stange J, Parkhomchuk D, Dickhaus T, Hecht J, **Robinson PN**, PN, **Krawitz PM** +216. **Heinrich V**, Kamphans T, Stange J, Parkhomchuk D, Dickhaus T, Hecht J, **Robinson PN**, PN, **Krawitz PM** Estimating Exome Genotyping Accuracy by Comparing to Data from Large Scale Sequencing Projects *Genome Med*, 2013; **5**:69 [PMID:23902830](https://pubmed.ncbi.nlm.nih.gov/23902830/){:target="_blank"} -216. **Guo G**, **Rödelsperger C**, Digweed M, , **Robinson PN** +217. **Guo G**, **Rödelsperger C**, Digweed M, , **Robinson PN** Regulation of fibrillin-1 gene expression by Sp1 *Gene*, 2013; **527**:448-455 [PMID:23860323](https://pubmed.ncbi.nlm.nih.gov/23860323/){:target="_blank"} -217. **Krawitz PM**, Höchsmann B, Murakami Y, Teubner B, **Krüger U**, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, **Robinson PN**, Mundlos S, Kinoshita T, Schrezenmeier H +218. **Krawitz PM**, Höchsmann B, Murakami Y, Teubner B, **Krüger U**, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, **Robinson PN**, Mundlos S, Kinoshita T, Schrezenmeier H A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT *Blood*, 2013; **122**:1312-1215 [PMID:23733340](https://pubmed.ncbi.nlm.nih.gov/23733340/){:target="_blank"} -218. **Krawitz PM**, Murakami Y, Rie\ss{} A, Hietala M, **Krüger U**, **Zhu N**, Kinoshita T, Mundlos S, Hecht J, **Robinson PN**, Horn D +219. **Krawitz PM**, Murakami Y, Rie\ss{} A, Hietala M, **Krüger U**, **Zhu N**, Kinoshita T, Mundlos S, Hecht J, **Robinson PN**, Horn D PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome *Am J Hum Genet*, 2013; **92**:584-589 [PMID:23561847](https://pubmed.ncbi.nlm.nih.gov/23561847/){:target="_blank"} -219. Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, **Robinson PN** +220. Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, **Robinson PN** Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy *Eur J Hum Genet*, 2013; **21**:1105-1111 [PMID:23463027](https://pubmed.ncbi.nlm.nih.gov/23463027/){:target="_blank"} -220. Kotlarz D, Zietara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, **Krawitz PM**, **Robinson PN**, Hecht J, Puchalka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C +221. Kotlarz D, Zietara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, **Krawitz PM**, **Robinson PN**, Hecht J, Puchalka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome *J Exp Med*, 2013; **210**:433-443 [PMID:23440042](https://pubmed.ncbi.nlm.nih.gov/23440042/){:target="_blank"} -221. Oetting WS, **Robinson PN**, Greenblatt MS, Cotton RG, Beck T, Carey JC, **Doelken SC**, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY +222. Oetting WS, **Robinson PN**, Greenblatt MS, Cotton RG, Beck T, Carey JC, **Doelken SC**, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY Getting ready for the Human Phenome Project the 2012 forum of the Human Variome Project *Hum Mutat*, 2013; **34**:661-666 [PMID:23401191](https://pubmed.ncbi.nlm.nih.gov/23401191/){:target="_blank"} -222. Schwill S, Seppelt P, **Grünhagen J**, **Ott CE**, Jugold M, Ruhparwar A, **Robinson PN**, Karck M, Kallenbach K +223. Schwill S, Seppelt P, **Grünhagen J**, **Ott CE**, Jugold M, Ruhparwar A, **Robinson PN**, Karck M, Kallenbach K The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta *J Vasc Surg*, 2013; **57**:1628-1636 [PMID:23294503](https://pubmed.ncbi.nlm.nih.gov/23294503/){:target="_blank"} -223. Kühne K, Keyser B, Groene EF, Sheikhzadeh S, Detter C, Lorenzen V, Hillebrand M, Bernhardt AM, Hoffmann B, Mir TS, **Robinson PN**, Berger J, Reichenspurner H, von Kodolitsch Y, Rybczynski M +224. Kühne K, Keyser B, Groene EF, Sheikhzadeh S, Detter C, Lorenzen V, Hillebrand M, Bernhardt AM, Hoffmann B, Mir TS, **Robinson PN**, Berger J, Reichenspurner H, von Kodolitsch Y, Rybczynski M FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression *Int J Cardiol*, 2013; **168**:953-959 [PMID:23176764](https://pubmed.ncbi.nlm.nih.gov/23176764/){:target="_blank"} -224. **Doelken SC**, **Köhler S**, Mungall CJ, Gkoutos GV, Ruef BJ, Smith C, Smedley D, **Bauer S**, Klopocki E, Schofield PN, Westerfield M, **Robinson PN**, Lewis SE +225. **Doelken SC**, **Köhler S**, Mungall CJ, Gkoutos GV, Ruef BJ, Smith C, Smedley D, **Bauer S**, Klopocki E, Schofield PN, Westerfield M, **Robinson PN**, Lewis SE Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish *Dis Model Mech*, 2013; **6**:358-372 [PMID:23104991](https://pubmed.ncbi.nlm.nih.gov/23104991/){:target="_blank"} -225. **Guo G**, Muñoz-García B, **Ott CE**, **Grünhagen J**, Mousa SA, Pletschacher A, von Kodolitsch Y, Knaus P, **Robinson PN** +226. **Guo G**, Muñoz-García B, **Ott CE**, **Grünhagen J**, Mousa SA, Pletschacher A, von Kodolitsch Y, Knaus P, **Robinson PN** Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice *Hum Mol Genet*, 2013; **22**:433-443 [PMID:23100322](https://pubmed.ncbi.nlm.nih.gov/23100322/){:target="_blank"} -226. Aydin A, Desai N, Bernhardt AM, Treede H, Detter C, Sheikhzadeh S, Rybczynski M, Hillebrand M, Lorenzen V, Mortensen K, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, Willems S, von Kodolitsch Y +227. Aydin A, Desai N, Bernhardt AM, Treede H, Detter C, Sheikhzadeh S, Rybczynski M, Hillebrand M, Lorenzen V, Mortensen K, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, Willems S, von Kodolitsch Y Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease *Int J Cardiol*, 2013; **164**:301-305 [PMID:21802748](https://pubmed.ncbi.nlm.nih.gov/21802748/){:target="_blank"} ## 2012 Publications -227. **Bhushan R**, **Grünhagen J**, Becker J, **Robinson PN**, **Ott CE**, Knaus P +228. **Bhushan R**, **Grünhagen J**, Becker J, **Robinson PN**, **Ott CE**, Knaus P miR-181a promotes osteoblastic differentiation through repression of TGF-$\beta$ signaling molecules *Int J Biochem Cell Biol*, 2012; **45**:696-705 [PMID:23262291](https://pubmed.ncbi.nlm.nih.gov/23262291/){:target="_blank"} -228. Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, **Robinson PN**, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Riviére JB, Boileau C, De Paepe A, Faivre L +229. Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, **Robinson PN**, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Riviére JB, Boileau C, De Paepe A, Faivre L In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome *Am J Human Genet*, 2012; **91**:950-957 [PMID:23103230](https://pubmed.ncbi.nlm.nih.gov/23103230/){:target="_blank"} -229. Saini S, **Robinson PN**, Singh JR, Vanita V +230. Saini S, **Robinson PN**, Singh JR, Vanita V A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family *Exp Eye Res*, 2012; **104**:82-88 [PMID:23041261](https://pubmed.ncbi.nlm.nih.gov/23041261/){:target="_blank"} -230. Spielmann M, Brancati F, **Krawitz PM**, **Robinson PN**, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S +231. Spielmann M, Brancati F, **Krawitz PM**, **Robinson PN**, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus *Am J Hum Genet*, 2012; **91**:629-635 [PMID:23022097](https://pubmed.ncbi.nlm.nih.gov/23022097/){:target="_blank"} -231. **Bauer S**, **Köhler S**, **Schulz MH**, **Robinson PN** +232. **Bauer S**, **Köhler S**, **Schulz MH**, **Robinson PN** Bayesian Ontology Querying for Accurate and Noise-Tolerant Semantic Searches *Bioinformatics*, 2012; **28**:2502-2508 [PMID:22843981](https://pubmed.ncbi.nlm.nih.gov/22843981/){:target="_blank"} -232. Taboada M, Martínez D, Pilo B, Jiménez-Escrig A, **Robinson PN**, Sobrido MJ +233. Taboada M, Martínez D, Pilo B, Jiménez-Escrig A, **Robinson PN**, Sobrido MJ Querying phenotype-genotype relationships on patient datasets using semantic web technology the example of cerebrotendinous xanthomatosis *BMC Med Inform Decis*, 2012; **12**:78 [PMID:22849591](https://pubmed.ncbi.nlm.nih.gov/22849591/){:target="_blank"} -233. Ghani-Kakhki M, **Robinson PN**, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H +234. Ghani-Kakhki M, **Robinson PN**, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin *Mol Syndromol*, 2012; **3**:6-13 [PMID:22855649](https://pubmed.ncbi.nlm.nih.gov/22855649/){:target="_blank"} -234. Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, **Robinson PN**, Boduro\v{g}lu K +235. Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, **Robinson PN**, Boduro\v{g}lu K Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene *Turk J Pediatr*, 2012; **54**:198-202 [PMID:22734312](https://pubmed.ncbi.nlm.nih.gov/22734312/){:target="_blank"} -235. **Krawitz PM**, Murakami Y, Hecht J, **Krüger U**, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, **Robinson PN**, Horn D +236. **Krawitz PM**, Murakami Y, Hecht J, **Krüger U**, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, **Robinson PN**, Horn D Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation *Am J Hum Genet*, 2012; **91**:146-151 [PMID:22683086](https://pubmed.ncbi.nlm.nih.gov/22683086/){:target="_blank"} -236. **Köhler S**, **Doelken SC**, Rath A, Aymé S, **Robinson PN** +237. **Köhler S**, **Doelken SC**, Rath A, Aymé S, **Robinson PN** Ontological phenotype standards for neurogenetics *Hum Mutat*, 2012; **33**:1333-1339 [PMID:22573485](https://pubmed.ncbi.nlm.nih.gov/22573485/){:target="_blank"} -237. **Robinson PN** +238. **Robinson PN** Deep phenotyping for precision medicine **, 2012; **33**:777-780 [PMID:22504886](https://pubmed.ncbi.nlm.nih.gov/22504886/){:target="_blank"} -238. Chen CK, Mungall CJ, Gkoutos GV, **Doelken SC**, **Köhler S**, Ruef BJ, Smith C, Westerfield M, **Robinson PN**, Lewis SE, Schofield PN, Smedley D +239. Chen CK, Mungall CJ, Gkoutos GV, **Doelken SC**, **Köhler S**, Ruef BJ, Smith C, Westerfield M, **Robinson PN**, Lewis SE, Schofield PN, Smedley D MouseFinder candidate disease genes from mouse phenotype data *Hum Mutat*, 2012; **33**:858-866 [PMID:22331800](https://pubmed.ncbi.nlm.nih.gov/22331800/){:target="_blank"} -239. Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, **Robinson PN**, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE +240. Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, **Robinson PN**, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome) *Am J Med Genet A.*, 2012; **158A**:553-558 [PMID:22315194](https://pubmed.ncbi.nlm.nih.gov/22315194/){:target="_blank"} -240. Sheikhzadeh S, Kusch ML, Rybczynski M, Kade C, Keyser B, Bernhardt AM, Hillebrand M, Mir TS, Fuisting B, **Robinson PN**, Berger J, Lorenzen V, Schmidtke J, Blankenberg S, von Kodolitsch Y +241. Sheikhzadeh S, Kusch ML, Rybczynski M, Kade C, Keyser B, Bernhardt AM, Hillebrand M, Mir TS, Fuisting B, **Robinson PN**, Berger J, Lorenzen V, Schmidtke J, Blankenberg S, von Kodolitsch Y A simple clinical model to estimate the probability of Marfan syndrome *QJM*, 2012; **105**:527-535 [PMID:22301820](https://pubmed.ncbi.nlm.nih.gov/22301820/){:target="_blank"} -241. Murakami Y, Kanzawa N, Saito K, **Krawitz PM**, Mundlos S, **Robinson PN**, Karadimitris A, Maeda Y, Kinoshita T +242. Murakami Y, Kanzawa N, Saito K, **Krawitz PM**, Mundlos S, **Robinson PN**, Karadimitris A, Maeda Y, Kinoshita T Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia-mental retardation syndrome *J Biol Chem*, 2012; **287**:6318-6325 [PMID:22228761](https://pubmed.ncbi.nlm.nih.gov/22228761/){:target="_blank"} -242. **Heinrich V**, Stange J, Dickhaus T, Imkeller P, **Krüger U**, **Bauer S**, Mundlos S, **Robinson PN**, Hecht J, **Krawitz PM** +243. **Heinrich V**, Stange J, Dickhaus T, Imkeller P, **Krüger U**, **Bauer S**, Mundlos S, **Robinson PN**, Hecht J, **Krawitz PM** The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process *Nucleic Acids Res*, 2012; **40**:2426-2431 [PMID:22127862](https://pubmed.ncbi.nlm.nih.gov/22127862/){:target="_blank"} -243. Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt A, Habermann C, Hillebrand M, Mir T, Robinson P, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y +244. Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt A, Habermann C, Hillebrand M, Mir T, Robinson P, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome *Clin Genet*, 2012; **82**:240-247 [PMID:21883168](https://pubmed.ncbi.nlm.nih.gov/21883168/){:target="_blank"} ## 2011 Publications -244. Huang J, Mirel D, Pugh E, Xing C, **Robinson PN**, Pertsemlidis A, Ding L, Kozlitina J, Maher J, Rios J, Story M, Marthandan N, Scheuermann RH +245. Huang J, Mirel D, Pugh E, Xing C, **Robinson PN**, Pertsemlidis A, Ding L, Kozlitina J, Maher J, Rios J, Story M, Marthandan N, Scheuermann RH Minimum Information about a Genotyping Experiment (MIGEN) *Stand Genomic Sci*, 2011; **5**:224-229 [PMID:22180825](https://pubmed.ncbi.nlm.nih.gov/22180825/){:target="_blank"} -245. **Robinson PN**, Arslan-Kirchner M, Gehle P, Schmidtke J, von Kodolitsch Y* +246. **Robinson PN**, Arslan-Kirchner M, Gehle P, Schmidtke J, von Kodolitsch Y* Das Marfan-Syndrom und verwandte monogene Krankheiten der Aorta *medizinische genetik*, 2011; **23**:407-420 -246. Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H +247. Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly *Cell Cycle*, 2011; **10**:2967-2677 [PMID:21857152](https://pubmed.ncbi.nlm.nih.gov/21857152/){:target="_blank"} -247. **Schulz MH**, **Köhler S**, **Bauer S**, **Robinson PN** +248. **Schulz MH**, **Köhler S**, **Bauer S**, **Robinson PN** Exact Score Distribution Computation for Ontological Similarity Searches *BMC Bioinformatics*, 2011; **12**:441 [PMID:22078312](https://pubmed.ncbi.nlm.nih.gov/22078312/){:target="_blank"} -248. **Köhler S**, **Bauer S**, Mungall CJ, Carletti G, Smith CL, Schofield P, Gkoutos GV, **Robinson PN** +249. **Köhler S**, **Bauer S**, Mungall CJ, Carletti G, Smith CL, Schofield P, Gkoutos GV, **Robinson PN** Improving ontologies by automatic reasoning and evaluation of logical definitions *BMC Bioinformatics*, 2011; **12**:418 [PMID:22032770](https://pubmed.ncbi.nlm.nih.gov/22032770/){:target="_blank"} -249. **Guo G**, Gehle P, Doelken S, Martin-Ventura JL, von Kodolitsch Y, Hetzer R, **Robinson PN** +250. **Guo G**, Gehle P, Doelken S, Martin-Ventura JL, von Kodolitsch Y, Hetzer R, **Robinson PN** Induction of Macrophage Chemotaxis by Aortic Extracts from Patients with Marfan Syndrome Is Related to Elastin Binding Protein *PLoS ONE*, 2011; **6**:e20138 -250. **Robinson PN**, Krawitz P, Mundlos S +251. **Robinson PN**, Krawitz P, Mundlos S Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discovery Projects *Clin Genet*, 2011; **80**:127-132 [PMID:21615730](https://pubmed.ncbi.nlm.nih.gov/21615730/){:target="_blank"} -251. Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, **Robinson PN**, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ +252. Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, **Robinson PN**, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ Call for participation in the neurogenetics consortium within the Human Variome Project *Neurogenetics*, 2011; **12**:169-173 [PMID:21630033](https://pubmed.ncbi.nlm.nih.gov/21630033/){:target="_blank"} -252. **Bauer S**, **Robinson PN**, Gagneur J* +253. **Bauer S**, **Robinson PN**, Gagneur J* Model-based Gene Set Analysis for Bioconductor *Bioinformatics*, 2011; **27**:1882-3 [PMID:21561920](https://pubmed.ncbi.nlm.nih.gov/21561920/){:target="_blank"} -253. Kossler N, Stricker S, **Rödelsperger C**, **Robinson PN**, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M +254. Kossler N, Stricker S, **Rödelsperger C**, **Robinson PN**, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M Neurofibromin (Nf1) is required for skeletal muscle development *Hum Mol Genet*, 2011; **20**:2697-709 [PMID:21478499](https://pubmed.ncbi.nlm.nih.gov/21478499/){:target="_blank"} -254. Rybczynski M, Treede H, Sheikhzadeh S, Groene EF, Bernhardt AM, Hillebrand M, Mir TS, Kühne K, Koschyk D, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y +255. Rybczynski M, Treede H, Sheikhzadeh S, Groene EF, Bernhardt AM, Hillebrand M, Mir TS, Kühne K, Koschyk D, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome *Am J Cardiol*, 2011; **107**:268-274 [PMID:21211604](https://pubmed.ncbi.nlm.nih.gov/21211604/){:target="_blank"} -255. Horn D, **Robinson PN** +256. Horn D, **Robinson PN** Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final exon of the FBN1 gene *Am J Med Genet A*, 2011; **155**:721-724 [PMID:21594993](https://pubmed.ncbi.nlm.nih.gov/21594993/){:target="_blank"} -256. **Jäger M**, **Ott CE**, Grunhagen J, Hecht J, Schell H, Mundlos S, Duda GN, **Robinson PN**, Lienau J +257. **Jäger M**, **Ott CE**, Grunhagen J, Hecht J, Schell H, Mundlos S, Duda GN, **Robinson PN**, Lienau J Composite Transcriptome Assembly of RNA-seq data in a Sheep Model for Delayed Bone Healing *BMC Genomics*, 2011; **12**:158 [PMID:21435219](https://pubmed.ncbi.nlm.nih.gov/21435219/){:target="_blank"} -257. Aydin A, Mortensen K, Rybczynski M, Sheikhzadeh S, Willmann S, Bernhardt AM, Hillebrand M, Stritzke J, Baulmann J, Schunkert H, Keil U, Hense HW, Meisinger C, **Robinson PN**, Berger J, Willems S, Meinertz T, von Kodolitsch Y +258. Aydin A, Mortensen K, Rybczynski M, Sheikhzadeh S, Willmann S, Bernhardt AM, Hillebrand M, Stritzke J, Baulmann J, Schunkert H, Keil U, Hense HW, Meisinger C, **Robinson PN**, Berger J, Willems S, Meinertz T, von Kodolitsch Y Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease *Int J Cardiol*, 2011; **147**:466-468 [PMID:21295359](https://pubmed.ncbi.nlm.nih.gov/21295359/){:target="_blank"} -258. **Rödelsperger C**, Krawitz P, **Bauer S**, Hecht J, Bigham AW, Bamshad M, Jonske de Condor B, Michal Schweiger MR, **Robinson PN** +259. **Rödelsperger C**, Krawitz P, **Bauer S**, Hecht J, Bigham AW, Bamshad M, Jonske de Condor B, Michal Schweiger MR, **Robinson PN** Identity-By-Descent Filtering of Exome Sequence data for Disease-Gene Identification in Autosomal Recessive Disorders *Bioinformatics*, 2011; **27**:829-836 [PMID:21278187](https://pubmed.ncbi.nlm.nih.gov/21278187/){:target="_blank"} -259. **Ott CE**, **Grünhagen J**, **Jäger M**, Horbelt D, Schwill S, Kallenbach K, **Guo G**, Manke T, Knaus P, Mundlos S, **Robinson PN** +260. **Ott CE**, **Grünhagen J**, **Jäger M**, Horbelt D, Schwill S, Kallenbach K, **Guo G**, Manke T, Knaus P, Mundlos S, **Robinson PN** MicroRNAs Differentially Expressed in Postnatal Aortic Development Downregulate Elastin via 3' UTR and Coding-Sequence Binding Sites *PLoS ONE*, 2011; **6**:e16250 [PMID:21305018](https://pubmed.ncbi.nlm.nih.gov/21305018/){:target="_blank"} -260. Lindblom A, **Robinson PN** +261. Lindblom A, **Robinson PN** Bioinformatics for Human Genetics Promises and Challenges *Hum Mutat*, 2011; **32**:495-500 [PMID:21520331](https://pubmed.ncbi.nlm.nih.gov/21520331/){:target="_blank"} -261. **Rödelsperger C**, **Guo G**, Kolanzyk M, Pletschacher A, **Köhler S**, **Bauer S**, **Schulz MH**, **Robinson PN** +262. **Rödelsperger C**, **Guo G**, Kolanzyk M, Pletschacher A, **Köhler S**, **Bauer S**, **Schulz MH**, **Robinson PN** Integrative analysis of genomic, functional, and protein-interaction data predicts long-range enhancer-target gene interactions *Nucleic Acids Res*, 2011; **39**:2492-2502 [PMID:21109530](https://pubmed.ncbi.nlm.nih.gov/21109530/){:target="_blank"} ## 2010 Publications -262. Graul-Neumann LM, Kienitz T, **Robinson PN**, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E +263. Graul-Neumann LM, Kienitz T, **Robinson PN**, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene *Am J Med Genet A*, 2010; **152A**:2749-2755 [PMID:20979188](https://pubmed.ncbi.nlm.nih.gov/20979188/){:target="_blank"} -263. Howard HJ, Horaitis O, Cotton RG, Vihinen M, Dalgleish R, Robinson P, Brookes AJ, Axton M, Hoffmann R, Tuffery-Giraud S +264. Howard HJ, Horaitis O, Cotton RG, Vihinen M, Dalgleish R, Robinson P, Brookes AJ, Axton M, Hoffmann R, Tuffery-Giraud S The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards" *Hum Mutat*, 2010; **31**:366-367 [PMID:20052753](https://pubmed.ncbi.nlm.nih.gov/20052753/){:target="_blank"} -264. **Robinson PN** +265. **Robinson PN** Whole-exome sequencing for finding de novo mutations in sporadic mental retardation *Genome Biol*, 2010; **11**:144 [PMID:21172032](https://pubmed.ncbi.nlm.nih.gov/21172032/){:target="_blank"} -265. Rybczynski M, Mir TS, Sheikhzadeh S, Bernhardt AM, Schad C, Treede H, Veldhoen S, Groene EF, Kühne K, Koschyk D, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y +266. Rybczynski M, Mir TS, Sheikhzadeh S, Bernhardt AM, Schad C, Treede H, Veldhoen S, Groene EF, Kühne K, Koschyk D, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome *Am J Cardiol*, 2010; **106**:1048-1053 [PMID:20854973](https://pubmed.ncbi.nlm.nih.gov/20854973/){:target="_blank"} -266. Horbelt D, **Guo G**, **Robinson PN**, Knaus P +267. Horbelt D, **Guo G**, **Robinson PN**, Knaus P Quantitative Analysis of TGFBR2 Mutations in Marfan Syndrome Related Disorders Suggests Correlation between Phenotypic Severity and Smad Signaling *J Cell Sci*, 2010; **123**:4340-4350 [PMID:21098638](https://pubmed.ncbi.nlm.nih.gov/21098638/){:target="_blank"} -267. Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, **Robinson PN**, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G +268. Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, **Robinson PN**, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G Cardiovascular manifestations in men and women carrying a FBN1 mutation *Eur Heart J*, 2010; **31**:2223-2229 [PMID:20709720](https://pubmed.ncbi.nlm.nih.gov/20709720/){:target="_blank"} -268. Sheikhzadeh S, Rybczynski M, Habermann CR, Bernhardt AM, Arslan-Kirchner M, Keyser B, Kaemmerer H, Mir TS, Staebler A, Oezdal N, **Robinson PN**, Berger J, Meinertz T, von Kodolitsch Y +269. Sheikhzadeh S, Rybczynski M, Habermann CR, Bernhardt AM, Arslan-Kirchner M, Keyser B, Kaemmerer H, Mir TS, Staebler A, Oezdal N, **Robinson PN**, Berger J, Meinertz T, von Kodolitsch Y Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2 *Clin Genet*, 2010; **79**:568-574 [PMID:20662850](https://pubmed.ncbi.nlm.nih.gov/20662850/){:target="_blank"} -269. **Krawitz PM**, Schweiger MR, **Rödelsperger C**, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, **Bauer S**, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, **Köhler S**, **Jäger M**, Gr\"nhagen J, Jonske de Condor B, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S*, **Robinson PN** +270. **Krawitz PM**, Schweiger MR, **Rödelsperger C**, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, **Bauer S**, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, **Köhler S**, **Jäger M**, Gr\"nhagen J, Jonske de Condor B, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S*, **Robinson PN** Identity-by-Descent Filtering of Exome Sequence Data identifies PIGV mutations in Hyperphosphatasia Mental Retardation syndrome (HPMR) *Nat Genet*, 2010; **42**:827-829 [PMID:20802478](https://pubmed.ncbi.nlm.nih.gov/20802478/){:target="_blank"} -270. **Robinson PN**, Mundlos S +271. **Robinson PN**, Mundlos S The Human Phenotype Ontology *Clin Genet*, 2010; **77**:525-534 [PMID:20412080](https://pubmed.ncbi.nlm.nih.gov/20412080/){:target="_blank"} -271. **Doelken SC**, **Köhler S**, **Bauer S**, Krawitz P, Horn D, Mundlos S, **Robinson PN** +272. **Doelken SC**, **Köhler S**, **Bauer S**, Krawitz P, Horn D, Mundlos S, **Robinson PN** Neue Wege in der bioinformatischen Phänotypanalyse Die Human Phenotype Ontology *medizinische genetik*, 2010; **22**:221-228 -272. Rybczynski M, Koschyk D, Karmeier A, Gessler N, Sheikhzadeh S, Bernhardt AM, Habermann CR, Treede H, Berger J, **Robinson PN**, Meinertz T, von Kodolitsch Y +273. Rybczynski M, Koschyk D, Karmeier A, Gessler N, Sheikhzadeh S, Bernhardt AM, Habermann CR, Treede H, Berger J, **Robinson PN**, Meinertz T, von Kodolitsch Y Frequency of sleep apnea in adults with the Marfan syndrome *Am J Cardiol*, 2010; **105**:1836-1841 [PMID:20538140](https://pubmed.ncbi.nlm.nih.gov/20538140/){:target="_blank"} -273. Mortensen K, Baulmann J, Rybczynski M, Sheikhzadeh S, Aydin MA, Treede H, Dombrowski E, Kühne K, Peitsmeier P, Habermann CR, **Robinson PN**, Stuhrmann M, Berger J, Meinertz T, von Kodolitsch Y +274. Mortensen K, Baulmann J, Rybczynski M, Sheikhzadeh S, Aydin MA, Treede H, Dombrowski E, Kühne K, Peitsmeier P, Habermann CR, **Robinson PN**, Stuhrmann M, Berger J, Meinertz T, von Kodolitsch Y Augmentation index and the evolution of aortic disease in Marfan-like syndromes *Am J Hypertens*, 2010; **23**:716-724 [PMID:20395939](https://pubmed.ncbi.nlm.nih.gov/20395939/){:target="_blank"} -274. von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir TS, Treede H, Dodge-Khatami A, **Robinson PN**, Sheikhzadeh S, Reichenspurner H, Meinertz T +275. von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir TS, Treede H, Dodge-Khatami A, **Robinson PN**, Sheikhzadeh S, Reichenspurner H, Meinertz T Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease do we need genetics for clinical decisions? *VASA*, 2010; **39**:17-32 [PMID:20186673](https://pubmed.ncbi.nlm.nih.gov/20186673/){:target="_blank"} -275. **Bauer S**, Gagneur J, **Robinson PN** +276. **Bauer S**, Gagneur J, **Robinson PN** GOing Bayesian model-based gene set analysis of genome-scale data *Nucleic Acids Res*, 2010; **38**:3523-3532 -276. Krawitz P, **Rödelsperger C**, **Jäger M**, Jostins L, **Bauer S**, **Robinson PN** +277. Krawitz P, **Rödelsperger C**, **Jäger M**, Jostins L, **Bauer S**, **Robinson PN** Microindel detection in short-read sequence data *Bioinformatics*, 2010; **26**:722-729 [PMID:20144947](https://pubmed.ncbi.nlm.nih.gov/20144947/){:target="_blank"} ## 2009 Publications -277. **Köhler S**, **Schulz MH**, Krawitz P, **Bauer S**, Dölken S, **Ott CE**, Mundlos C, Horn D, Mundlos S, **Robinson PN** +278. **Köhler S**, **Schulz MH**, Krawitz P, **Bauer S**, Dölken S, **Ott CE**, Mundlos C, Horn D, Mundlos S, **Robinson PN** Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies *Am J Hum Genet*, 2009; **85**:457-64 [PMID:19800049](https://pubmed.ncbi.nlm.nih.gov/19800049/){:target="_blank"} -278. **Rödelsperger C**, **Köhler S**, **Schulz MH**, Manke T, Manke T, **Robinson PN** +279. **Rödelsperger C**, **Köhler S**, **Schulz MH**, Manke T, Manke T, **Robinson PN** Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts *Genomics*, 2009; **94**:308-316 [PMID:19660540](https://pubmed.ncbi.nlm.nih.gov/19660540/){:target="_blank"} -279. **Schulz MH**, **Köhler S**, **Bauer S**, Vingron M, **Robinson PN** +280. **Schulz MH**, **Köhler S**, **Bauer S**, Vingron M, **Robinson PN** Exact Score Distribution Computation for Similarity Searches in Ontologies *Springer Lecture Notes in Computer Science (Proceedings of the Workshop of Algorithmic Bioinformatics; WABI09)*, 2009; **5724**:298-309 -280. Gkoutos GV, Mungall C, Dölken S, Ashburner M, Lewis S, **Köhler S**, **Robinson PN** +281. Gkoutos GV, Mungall C, Dölken S, Ashburner M, Lewis S, **Köhler S**, **Robinson PN** Entity/Quality-Based Logical Definitions for the Human Skeletal Phenome using PATO *IEEE Xplore (Proceedings of the 31st Engineering in Medicine and Biology IEEE conference)*, 2009; **1**:7069-7072 [PMID:19964203](https://pubmed.ncbi.nlm.nih.gov/19964203/){:target="_blank"} -281. Mortensen K, Aydin MA, Rybczynski M, Baulmann J, Abdul Schahidi N, Kean G, Kühne K, Bernhardt AM, Franzen O, Mir T, Habermann C, Koschyk D, Ventura R, Willems S, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y +282. Mortensen K, Aydin MA, Rybczynski M, Baulmann J, Abdul Schahidi N, Kean G, Kühne K, Bernhardt AM, Franzen O, Mir T, Habermann C, Koschyk D, Ventura R, Willems S, **Robinson PN**, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y Augmentation Index Relates to Progression of Aortic Disease in Adults With Marfan Syndrome *Am J Hypertens*, 2009; **22**:971-979 [PMID:19574960](https://pubmed.ncbi.nlm.nih.gov/19574960/){:target="_blank"} -282. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G +283. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion *Am J Med Genet A*, 2009; **149A**:854-860 [PMID:19353630](https://pubmed.ncbi.nlm.nih.gov/19353630/){:target="_blank"} -283. Türkmen S, **Guo G**, Garshasbi M, Hoffmann K, Alshalah A, Kuss A, Humphrey N, Mundlos S, **Robinson PN** +284. Türkmen S, **Guo G**, Garshasbi M, Hoffmann K, Alshalah A, Kuss A, Humphrey N, Mundlos S, **Robinson PN** A CA8 mutation causes a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait *PLoS Genet*, 2009; **5**:e1000487 [PMID:19461874](https://pubmed.ncbi.nlm.nih.gov/19461874/){:target="_blank"} -284. **Ott CE**, **Bauer S**, Manke T, Ahrens S, **Rödelsperger C**, **Grünhagen J**, Kornak U, Duda G, Mundlos S, **Robinson PN** +285. **Ott CE**, **Bauer S**, Manke T, Ahrens S, **Rödelsperger C**, **Grünhagen J**, Kornak U, Duda G, Mundlos S, **Robinson PN** Promiscuous and Depolarization-Induced Immediate-Early Response Genes are Induced by Mechanical Strain of Osteoblasts *J Bone Miner Res*, 2009; **24**:1247-1262 [PMID:19257815](https://pubmed.ncbi.nlm.nih.gov/19257815/){:target="_blank"} -285. Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G +286. Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations *Pediatrics*, 2009; **123**:391-398 [PMID:19117906](https://pubmed.ncbi.nlm.nih.gov/19117906/){:target="_blank"} ## 2008 Publications -286. Faivre L, Collod-Béroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C +287. Faivre L, Collod-Béroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation *Eur J Hum Genet*, 2008; **17**:491-501 [PMID:19002209](https://pubmed.ncbi.nlm.nih.gov/19002209/){:target="_blank"} -287. **Robinson PN**, **Köhler S**, **Bauer S**, Seelow D, Horn D, Mundlos S +288. **Robinson PN**, **Köhler S**, **Bauer S**, Seelow D, Horn D, Mundlos S The Human Phenotype Ontology A Tool for Annotating and Analyzing Human Hereditary Disease *Am J Hum Genet*, 2008; **83**:610-615 [PMID:18950739](https://pubmed.ncbi.nlm.nih.gov/18950739/){:target="_blank"} -288. **Köhler S**, **Bauer S**, Horn D, **Robinson PN** +289. **Köhler S**, **Bauer S**, Horn D, **Robinson PN** Walking the interactome for prioritization of candidate disease genes *Am J Hum Genet*, 2008; **82**:949-58 [PMID:18371930](https://pubmed.ncbi.nlm.nih.gov/18371930/){:target="_blank"} -289. **Schulz MH**, **Bauer S**, **Robinson PN** +290. **Schulz MH**, **Bauer S**, **Robinson PN** The Generalized k-Truncated Suffix Tree for Time- and Space-Efficient Searches in Multiple DNA or Protein Sequences *Int J Bioinform Res Appl*, 2008; **4**:81-95 [PMID:18283030](https://pubmed.ncbi.nlm.nih.gov/18283030/){:target="_blank"} -290. **Bauer S**, Grossmann S, Vingron M, **Robinson PN** +291. **Bauer S**, Grossmann S, Vingron M, **Robinson PN** Ontologizer 2.0-a multifunctional tool for GO term enrichment analysis and data exploration *Bioinformatics*, 2008; **24**:1650-1651 [PMID:18511468](https://pubmed.ncbi.nlm.nih.gov/18511468/){:target="_blank"} -291. Faivre L, Collod-Béroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglu A, Comeglio P, Narziliano N, Halliday D, Béroud C, Bonithon-Kopp C, Claustres M, Plauchu H, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G +292. Faivre L, Collod-Béroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglu A, Comeglio P, Narziliano N, Halliday D, Béroud C, Bonithon-Kopp C, Claustres M, Plauchu H, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies an international study of 1009 probands *J Med Genet*, 2008; **45**:384-90 [PMID:18310266](https://pubmed.ncbi.nlm.nih.gov/18310266/){:target="_blank"} -292. **Guo G**, **Bauer S**, Hecht J, **Schulz MH**, Busche A, **Robinson PN** +293. **Guo G**, **Bauer S**, Hecht J, **Schulz MH**, Busche A, **Robinson PN** A short ultraconserved sequence drives transcription from an alternate FBN1 promoter *Int J Biochem Cell Biol*, 2008; **40**:638-50 [PMID:17996480](https://pubmed.ncbi.nlm.nih.gov/17996480/){:target="_blank"} -293. Rybczynski M, Bernhardt AM, Rehder U, Fuisting B, Meiss L, Voss U, Habermann C, Detter C, **Robinson PN**, Arslan-Kirchner M, Schmidtke J, Mir TS, Berger J, Meinertz T, von Kodolitsch Y +294. Rybczynski M, Bernhardt AM, Rehder U, Fuisting B, Meiss L, Voss U, Habermann C, Detter C, **Robinson PN**, Arslan-Kirchner M, Schmidtke J, Mir TS, Berger J, Meinertz T, von Kodolitsch Y The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome *Am J Med Genet A*, 2008; **146A**:3157-3166 [PMID:19012347](https://pubmed.ncbi.nlm.nih.gov/19012347/){:target="_blank"} -294. Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G +295. Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, **Robinson PN**, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies an international study of 1009 probands *J Med Genet*, 2008; **45**:384-390 [PMID:18310266](https://pubmed.ncbi.nlm.nih.gov/18310266/){:target="_blank"} ## 2007 Publications -295. Vanita V, Singh JR, Singh D, Varon R, **Robinson PN**, Sperling K +296. Vanita V, Singh JR, Singh D, Varon R, **Robinson PN**, Sperling K A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin *Mol Vis*, 2007; **13**:2035-40 [PMID:18079676](https://pubmed.ncbi.nlm.nih.gov/18079676/){:target="_blank"} -296. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, **Robinson PN**, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C +297. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, **Robinson PN**, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations an international study *Am J Hum Genet*, 2007; **81**:454-466 [PMID:17701892](https://pubmed.ncbi.nlm.nih.gov/17701892/){:target="_blank"} -297. Grossmann S, **Bauer S**, **Robinson PN**, Vingron M +298. Grossmann S, **Bauer S**, **Robinson PN**, Vingron M Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis *Bioinformatics*, 2007; **23**:3024-3031 [PMID:17848398](https://pubmed.ncbi.nlm.nih.gov/17848398/){:target="_blank"} -298. von Kodolitsch Y, **Robinson PN** +299. von Kodolitsch Y, **Robinson PN** Marfan syndrome An update of Genetics, Medical and Surgical Management *Heart*, 2007; **93**:755-760 [PMID:17502658](https://pubmed.ncbi.nlm.nih.gov/17502658/){:target="_blank"} -299. Rybczynski M, Koschyk DH, Aydin MA, **Robinson PN**, Brinken T, Franzen O, Berger J, Hofmann T, Meinertz T, von Kodolitsch Y +300. Rybczynski M, Koschyk DH, Aydin MA, **Robinson PN**, Brinken T, Franzen O, Berger J, Hofmann T, Meinertz T, von Kodolitsch Y Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome *Clin Cardiol*, 2007; **30**:19-24 [PMID:17262773](https://pubmed.ncbi.nlm.nih.gov/17262773/){:target="_blank"} -300. Hecht J, Seitz V, Urban M, Wagner F, **Robinson PN**, Stiege A, Dieterich C, Kornak U, Wilkening U, Brieske N, Zwingman C, Kidess A, Stricker S, Mundlos S +301. Hecht J, Seitz V, Urban M, Wagner F, **Robinson PN**, Stiege A, Dieterich C, Kornak U, Wilkening U, Brieske N, Zwingman C, Kidess A, Stricker S, Mundlos S Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model *Gene Expr Patterns*, 2007; **7**:102-112 [PMID:16829211](https://pubmed.ncbi.nlm.nih.gov/16829211/){:target="_blank"} ## 2006 Publications -301. Jochen Hecht, Heiner Kuhl, Stefan A Haas, **Sebastian Bauer**, Albert J Poustka, Jasmin Lienau, Hanna Schell, Asita C Stiege, Volkhard Seitz, Richard Reinhardt, Georg N Duda, Stefan Mundlos, **Robinson PN** +302. Jochen Hecht, Heiner Kuhl, Stefan A Haas, **Sebastian Bauer**, Albert J Poustka, Jasmin Lienau, Hanna Schell, Asita C Stiege, Volkhard Seitz, Richard Reinhardt, Georg N Duda, Stefan Mundlos, **Robinson PN** Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep *BMC Genomics*, 2006; **7**:172 [PMID:16822315](https://pubmed.ncbi.nlm.nih.gov/16822315/){:target="_blank"} -302. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, **Robinson PN**, Lochmuller H, Hubner C, Mundlos S +303. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, **Robinson PN**, Lochmuller H, Hubner C, Mundlos S Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal gamma Subunit *Am J Hum Genet*, 2006; **79**:303-312 [PMID:16826520](https://pubmed.ncbi.nlm.nih.gov/16826520/){:target="_blank"} -303. Ladewig MS, **Robinson PN**, Neumann LM, Holz FG, Foerster MH +304. Ladewig MS, **Robinson PN**, Neumann LM, Holz FG, Foerster MH Okuläre Manifestationen und chirurgische Ergebnisse beim Marfan-Syndrom *Ophthalmologe*, 2006; **103**:777-82 [PMID:16819661](https://pubmed.ncbi.nlm.nih.gov/16819661/){:target="_blank"} -304. **Robinson PN**, Arteaga-Solis E, Baldock C, Collod-Beroud G, **Booms P**, De Paepe A, Dietz HC, **Guo G**, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, **Ney A**, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M +305. **Robinson PN**, Arteaga-Solis E, Baldock C, Collod-Beroud G, **Booms P**, De Paepe A, Dietz HC, **Guo G**, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, **Ney A**, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M The molecular genetics of Marfan syndrome and related disorders *J Med Genet*, 2006; **43**:769-87 [PMID:16571647](https://pubmed.ncbi.nlm.nih.gov/16571647/){:target="_blank"} -305. Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, **Robinson PN**, Kress W, Osterziel KJ, Spuler S +306. Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, **Robinson PN**, Kress W, Osterziel KJ, Spuler S Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding *Hum Mutat*, 2006; **27**:599-600 [PMID:16705711](https://pubmed.ncbi.nlm.nih.gov/16705711/){:target="_blank"} -306. Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R +307. Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2 *Am J Med Genet A*, 2006; **140**:873-877 [PMID:16528753](https://pubmed.ncbi.nlm.nih.gov/16528753/){:target="_blank"} -307. Vanita V, Singh D, **Robinson PN**, Sperling K, Singh JR +308. Vanita V, Singh D, **Robinson PN**, Sperling K, Singh JR A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant cerulean cataract in an Indian family *Am J Med Genet A*, 2006; **140**:558-66 [PMID:16470690](https://pubmed.ncbi.nlm.nih.gov/16470690/){:target="_blank"} -308. Grossmann S, **Bauer S**, **Robinson PN**, Vingron M +309. Grossmann S, **Bauer S**, **Robinson PN**, Vingron M An Improved Statistic for Detecting Over-represented Gene Ontology Annotations in Gene Sets *Lecture Notes in Computer Science (Proceedings of RECOMB 2006)*, 2006; **3909**:85-98 -309. **Booms P**, **Ney A**, Barthel F, Moroy G, Counsell D, Gille C, **Guo G**, Pregla R, Mundlos S, Alix AJP, **Robinson PN** +310. **Booms P**, **Ney A**, Barthel F, Moroy G, Counsell D, Gille C, **Guo G**, Pregla R, Mundlos S, Alix AJP, **Robinson PN** A Fibrillin-1-Fragment Containing the Elastin-Binding-Protein GxxPG Consensus Sequence Upregulates MMP-1 Expression Biochemical and Computational Analysis *J Mol Cell Cardiol*, 2006; **40**:234-246 [PMID:16442122](https://pubmed.ncbi.nlm.nih.gov/16442122/){:target="_blank"} -310. **Guo G**, **Booms P**, Halushka M, Dietz HC, **Ney A**, Stricker S, Hecht J, Mundlos S, **Robinson PN** +311. **Guo G**, **Booms P**, Halushka M, Dietz HC, **Ney A**, Stricker S, Hecht J, Mundlos S, **Robinson PN** Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment *Circulation*, 2006; **114**:1855-1862 [PMID:17030689](https://pubmed.ncbi.nlm.nih.gov/17030689/){:target="_blank"} -311. Gille C, **Robinson PN** +312. Gille C, **Robinson PN** HotSwap for Bioinformatics A STRAP Tutorial *BMC Bioinformatics*, 2006; **7**:64 -312. Beattie BJ, **Robinson PN** +313. Beattie BJ, **Robinson PN** Binary State Pattern Clustering A Digital Paradigm for Class and Biomarker Discovery *J Comput Biol*, 2006; **13**:1114-1130 [PMID:16442122](https://pubmed.ncbi.nlm.nih.gov/16442122/){:target="_blank"} -313. Andreas Ney, Patrick Booms, Guido Epple, Matthias Mörgelin, Gao Guo, Gerhard Kettelgerdes, Reinhard Ge{\ss}ner Robinson PN +314. Andreas Ney, Patrick Booms, Guido Epple, Matthias Mörgelin, Gao Guo, Gerhard Kettelgerdes, Reinhard Ge{\ss}ner Robinson PN Calcium-dependent self-association of the C-type lectin domain of versican *Int J Biochem Cell Biol*, 2006; **38**:23-29 [PMID:16159712](https://pubmed.ncbi.nlm.nih.gov/16159712/){:target="_blank"} -314. **Robinson PN**, Neumann LM, Tinschert S +315. **Robinson PN**, Neumann LM, Tinschert S Response to Kosaki et al. Molecular pathology of Shprintzen-Goldberg syndrome (Letter) *Am J Med Genet A*, 2006; **140A**:109-110 ## 2005 Publications -315. **Robinson PN**, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S +316. **Robinson PN**, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S Shprintzen-Goldberg syndrome Fourteen new patients and a clinical analysis *Am J Med Genet A*, 2005; **135**:251-62 [PMID:15884042](https://pubmed.ncbi.nlm.nih.gov/15884042/){:target="_blank"} -316. **Booms P**, Pregla R, **Ney A**, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, **Robinson PN** +317. **Booms P**, Pregla R, **Ney A**, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, **Robinson PN** RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture a potential factor in the pathogenesis of the Marfan syndrome *Hum Genet*, 2005; **116**:51-61 [PMID:15517394](https://pubmed.ncbi.nlm.nih.gov/15517394/){:target="_blank"} ## 2004 Publications -317. Albrecht AN, Kornak U, Boddrich A, Suring K, **Robinson PN**, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S +318. Albrecht AN, Kornak U, Boddrich A, Suring K, **Robinson PN**, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S A molecular pathogenesis for transcription factor associated poly-alanine tract expansions *Hum Mol Genet*, 2004; **13**:2351-2359 [PMID:15333588](https://pubmed.ncbi.nlm.nih.gov/15333588/){:target="_blank"} -318. **Robinson PN**, **Böhme U**, Lopez R, Mundlos S, Nürnberg P +319. **Robinson PN**, **Böhme U**, Lopez R, Mundlos S, Nürnberg P Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis *Hum Mol Genet*, 2004; **13**:1969-78 [PMID:15254011](https://pubmed.ncbi.nlm.nih.gov/15254011/){:target="_blank"} -319. **Robinson PN**, Wollstein A, **Böhme U**, Beattie B +320. **Robinson PN**, Wollstein A, **Böhme U**, Beattie B Ontologizing gene-expression microarray data characterizing clusters with Gene Ontology *Bioinformatics*, 2004; **20**:979-81 [PMID:14764576](https://pubmed.ncbi.nlm.nih.gov/14764576/){:target="_blank"} ## 2003 Publications -320. Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, **Booms P**, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, **Robinson PN**, Steinmann B, Junien C, Beroud C, Boileau C +321. Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, **Booms P**, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, **Robinson PN**, Steinmann B, Junien C, Beroud C, Boileau C Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database *Hum Mutat*, 2003; **22**:199-208 [PMID:12938084](https://pubmed.ncbi.nlm.nih.gov/12938084/){:target="_blank"} ## 2002 Publications -321. **Robinson PN**, **Booms P**, **Katzke S**, Ladewig M, Neumann L, **Palz M**, Pregla R, Tiecke F Tiecke F, Rosenberg T +322. **Robinson PN**, **Booms P**, **Katzke S**, Ladewig M, Neumann L, **Palz M**, Pregla R, Tiecke F Tiecke F, Rosenberg T FBN1 Mutations and Genotype-Phenotype Correlations in Marfan Syndrome and Related Fibrillinopathies *Hum Mutat*, 2002; **20**:153-161 [PMID:12203987](https://pubmed.ncbi.nlm.nih.gov/12203987/){:target="_blank"} -322. **Katzke S**, **Booms P**, **Tiecke F**, **Palz M**, Pletschacher A, Türkmen S, Neumann L, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, **Robinson PN** +323. **Katzke S**, **Booms P**, **Tiecke F**, **Palz M**, Pletschacher A, Türkmen S, Neumann L, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, **Robinson PN** TGGE Screening of the Entire *FBN1* Coding Sequence in 126 Individuals with Marfan Syndrome and Related Fibrillinopathies *Hum Mutat*, 2002; **20**:197-208 [PMID:12203992](https://pubmed.ncbi.nlm.nih.gov/12203992/){:target="_blank"} ## 2001 Publications -323. **Robinson PN**, **Booms P** +324. **Robinson PN**, **Booms P** The molecular pathogenesis of Marfan syndrome *Cell Mol Life Sci*, 2001; **8**:1698-1707 [PMID:11706995](https://pubmed.ncbi.nlm.nih.gov/11706995/){:target="_blank"} -324. **Tiecke F**, **Katzke S**, **Booms P**, **Robinson PN**, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T +325. **Tiecke F**, **Katzke S**, **Booms P**, **Robinson PN**, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T Classic, atypically severe and neonatal Marfan syndrome 12 Novel Mutations and Genotype-Phenotype Correlations in*FBN1* Exons 24-40 *Eur J Hum Genet*, 2001; **9**:13-21 [PMID:11175294](https://pubmed.ncbi.nlm.nih.gov/11175294/){:target="_blank"} ## 2000 Publications -325. **Robinson PN**, Godfrey M +326. **Robinson PN**, Godfrey M The Molecular Genetics of the Marfan Syndrome and Related Microfibrillopathies *J Med Genet*, 2000; **37**:7-25 [PMID:10633129](https://pubmed.ncbi.nlm.nih.gov/10633129/){:target="_blank"} -326. **Booms P**, **Tiecke F**, Rosenberg T, Hagemeier C, **Robinson PN** +327. **Booms P**, **Tiecke F**, Rosenberg T, Hagemeier C, **Robinson PN** Differential effect of*FBN1* mutations on in vitro proteolysis of recombinant fibrillin-1 fragments *Hum Genet*, 2000; **107**:216-224 [PMID:11071382](https://pubmed.ncbi.nlm.nih.gov/11071382/){:target="_blank"} -327. **Palz M**, **Tiecke F**, **Booms P**, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Vetter B, Hagemeier C, **Robinson PN** +328. **Palz M**, **Tiecke F**, **Booms P**, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Vetter B, Hagemeier C, **Robinson PN** Clustering of Mutations Associated with Mild Marfan-like Phenotypes in the 3' Region of *FBN1* suggests a Potential Genotype-Phenotype Correlation *Am J Med Genet*, 2000; **91**:212-221 [PMID:10756346](https://pubmed.ncbi.nlm.nih.gov/10756346/){:target="_blank"} ## 1999 Publications -328. **Booms P**, Cisler J, Mathews KR, Godfrey M, **Tiecke F**, Kaufmann UC, Vetter U, Hagemeier C, **Robinson PN** +329. **Booms P**, Cisler J, Mathews KR, Godfrey M, **Tiecke F**, Kaufmann UC, Vetter U, Hagemeier C, **Robinson PN** Novel exon skipping mutation in the fibrillin-1 gene two 'hot spots' for the neonatal Marfan syndrome *Clin Genet*, 1999; **55**:110-117 [PMID:10189088](https://pubmed.ncbi.nlm.nih.gov/10189088/){:target="_blank"} ## 1998 Publications -329. Gille C, Gille A, **Booms P**, **Robinson PN**, Nürnberg P +330. Gille C, Gille A, **Booms P**, **Robinson PN**, Nürnberg P Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis *Electrophoresis*, 1998; **19**:1347-1350 [PMID:9694279](https://pubmed.ncbi.nlm.nih.gov/9694279/){:target="_blank"} -330. Klose A, **Robinson PN**, Gewies A, Kluwe L, Kaufmann D, Buske A, Tinschert S, Peters H +331. Klose A, **Robinson PN**, Gewies A, Kluwe L, Kaufmann D, Buske A, Tinschert S, Peters H Two novel mutations in exons 19a and 20 and a BsaL polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene *Hum Genet*, 1998; **102**:367-371 [PMID:9544853](https://pubmed.ncbi.nlm.nih.gov/9544853/){:target="_blank"} ## 1997 Publications -331. **Booms P**, Withers AP, Boxer M, Kaufmann UC, Hagemeier C, Vetter U, **Robinson PN** +332. **Booms P**, Withers AP, Boxer M, Kaufmann UC, Hagemeier C, Vetter U, **Robinson PN** A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype *Hum Genet*, 1997; **100**:195-200 [PMID:9254848](https://pubmed.ncbi.nlm.nih.gov/9254848/){:target="_blank"} -332. Boddrich A, **Robinson PN**, Schülke M, Buske A, Tinschert S, Nürnberg P +333. Boddrich A, **Robinson PN**, Schülke M, Buske A, Tinschert S, Nürnberg P New evidence for a mutation hotspot in exon 37 of the NF1 gene *Hum Mutat*, 1997; **9**:374-377 [PMID:9101303](https://pubmed.ncbi.nlm.nih.gov/9101303/){:target="_blank"} ## 1996 Publications -333. Horn D, **Robinson PN**, Boddrich A, Buske A, Tinschert S, Nürnberg P +334. Horn D, **Robinson PN**, Boddrich A, Buske A, Tinschert S, Nürnberg P Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8 *Electrophoresis*, 1996; **17**:1559-1563 [PMID:8957181](https://pubmed.ncbi.nlm.nih.gov/8957181/){:target="_blank"} -334. **Robinson PN**, Buske A, Neumann R, Tinschert S, Nürnberg P +335. **Robinson PN**, Buske A, Neumann R, Tinschert S, Nürnberg P Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis *Hum Mutat*, 1996; **7**:85-88 [PMID:8664912](https://pubmed.ncbi.nlm.nih.gov/8664912/){:target="_blank"} -335. **Robinson PN**, Heidrich B, **Tiecke F**, Fehrenbach FJ, Rolfs +336. **Robinson PN**, Heidrich B, **Tiecke F**, Fehrenbach FJ, Rolfs A Species-specific detection of Legionella using polymerase chain reaction and reverse dot-blotting *FEMS Microbiol Lett*, 1996; **140**:111-119 [PMID:8764471](https://pubmed.ncbi.nlm.nih.gov/8764471/){:target="_blank"} ## 1995 Publications -336. **Robinson PN**, Boddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Nürnberg P +337. **Robinson PN**, Boddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Nürnberg P Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene *Hum Genet*, 1995; **96**:95-98 [PMID:7607663](https://pubmed.ncbi.nlm.nih.gov/7607663/){:target="_blank"} ## 1994 Publications -337. **Tiecke F**, **Robinson PN**, Steinhoff D, Fehrenbach FJ, Rolfs A +338. **Tiecke F**, **Robinson PN**, Steinhoff D, Fehrenbach FJ, Rolfs A Automated direct sequencing of Legionella 5S rDNA *Med Microbiol Lett*, 1994; **3**:279-290 -338. Heidrich B, **Robinson PN**, **Tiecke F**, Steinhoff D, Fehrenbach FJ, Rolfs A +339. Heidrich B, **Robinson PN**, **Tiecke F**, Steinhoff D, Fehrenbach FJ, Rolfs A Genetische Verwandtschaft innerhalb des Genus Legionella. DNS Sequenzuntersuchungen an ribosomalen Genen *Klinisches Labor*, 1994; **40**:211-216