| The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 781 | 2021 |
| 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 | 709 | 2019 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 635 | 2017 |
| 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 | 413 | 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 | 370 | 2020 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 363 | 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 | 326 | 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 | 319 | 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 | 316 | 2016 |
| 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 | 231 | 2015 |
| 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 | 226 | 2020 |
| 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 | 223 | 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 | 204 | 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 | 187 | 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 | 157 | 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 | 140 | 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 | 134 | 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 | 128 | 2022 |
| Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially dense geometric morphometrics P Claes, M Walters, MD Shriver, D Puts, G Gibson, J Clement, G Baynam, ... Journal of anatomy 221 (2), 97-114, 2012 | 121 | 2012 |
