Gareth Baynam
Gareth Baynam
Clinical Professor, Faculty of Medicine and Health Sciences, University of Western
Verified email at
Cited by
Cited by
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
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
Modeling 3D facial shape from DNA
P Claes, DK Liberton, K Daniels, KM Rosana, EE Quillen, LN Pearson, ...
PLoS Genet 10 (3), e1004224, 2014
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
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
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
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
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
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
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
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), 21-27, 2018
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
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), 11-20, 2018
Fetal akinesia: review of the genetics of the neuromuscular causes
G Ravenscroft, E Sollis, AK Charles, KN North, G Baynam, NG Laing
Journal of medical genetics 48 (12), 793-801, 2011
Automatic concept recognition using the human phenotype ontology reference and test suite corpora
T Groza, S Köhler, S Doelken, N Collier, A Oellrich, D Smedley, FM Couto, ...
Database 2015, 2015
Cornelia de Lange syndrome
J Liu, G Baynam
Diseases of DNA Repair, 113-123, 2010
Association of CD14 promoter polymorphism with otitis media and pneumococcal vaccine responses
SP Wiertsema, SK Khoo, G Baynam, RH Veenhoven, IA Laing, ...
Clinical and vaccine immunology 13 (8), 892-897, 2006
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
Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
D Taruscio, SC Groft, H Cederroth, B Melegh, P Lasko, K Kosaki, ...
Molecular genetics and metabolism 116 (4), 223-225, 2015
Dispelling myths about rare disease registry system development
M Bellgard, C Beroud, K Parkinson, T Harris, S Ayme, G Baynam, ...
Source code for biology and medicine 8 (1), 1-7, 2013
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