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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 720 | 2019 |
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International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 422 | 2017 |
How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020 | 397 | 2020 |
The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 368 | 2017 |
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections AM Bertoli-Avella, E Gillis, H Morisaki, JMA Verhagen, BM De Graaf, ... Journal of the American College of Cardiology 65 (13), 1324-1336, 2015 | 329 | 2015 |
Modeling 3D facial shape from DNA P Claes, DK Liberton, K Daniels, KM Rosana, EE Quillen, LN Pearson, ... PLoS genetics 10 (3), e1004224, 2014 | 324 | 2014 |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 319 | 2016 |
Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data M Hudson, NA Garrison, R Sterling, NR Caron, K Fox, J Yracheta, ... Nature Reviews Genetics 21 (6), 377-384, 2020 | 237 | 2020 |
The human phenotype ontology: semantic unification of common and rare disease T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ... The American Journal of Human Genetics 97 (1), 111-124, 2015 | 232 | 2015 |
Future of rare diseases research 2017–2027: an IRDiRC perspective CP Austin, CM Cutillo, LPL Lau, AH Jonker, A Rath, D Julkowska, ... Clinical and translational science 11 (1), 21, 2018 | 228 | 2018 |
Extending the phenotypes associated with DICER1 mutations WD Foulkes, A Bahubeshi, N Hamel, B Pasini, S Asioli, G Baynam, ... Human mutation 32 (12), 1381-1384, 2011 | 206 | 2011 |
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ... Blood, The Journal of the American Society of Hematology 127 (23), 2791-2803, 2016 | 195 | 2016 |
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 N Bögershausen, V Gatinois, V Riehmer, H Kayserili, J Becker, ... Human mutation 37 (9), 847-864, 2016 | 190 | 2016 |
Progress in rare diseases research 2010–2016: an IRDiRC perspective HJS Dawkins, R Draghia‐Akli, P Lasko, LPL Lau, AH Jonker, CM Cutillo, ... Clinical and translational science 11 (1), 11, 2018 | 163 | 2018 |
A diagnosis for all rare genetic diseases: the horizon and the next frontiers KM Boycott, T Hartley, LG Biesecker, RA Gibbs, AM Innes, O Riess, ... Cell 177 (1), 32-37, 2019 | 142 | 2019 |
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring M Begemann, FI Rezwan, J Beygo, LE Docherty, J Kolarova, C Schroeder, ... Journal of Medical Genetics 55 (7), 497-504, 2018 | 136 | 2018 |
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 132 | 2022 |
Hypospadias prevalence and trends in international birth defect surveillance systems, 1980–2010 X Yu, N Nassar, P Mastroiacovo, M Canfield, B Groisman, ... European urology 76 (4), 482-490, 2019 | 126 | 2019 |