Gareth Baynam
Gareth Baynam
Clinical Professor, Faculty of Medicine and Health Sciences, University of Western
Verified email at health.wa.gov.au
Title
Cited by
Cited by
Year
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
5312017
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
2742019
Modeling 3D facial shape from DNA
P Claes, DK Liberton, K Daniels, KM Rosana, EE Quillen, LN Pearson, ...
PLoS Genet 10 (3), e1004224, 2014
2412014
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
2002015
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
1932016
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
1642017
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
1552015
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
1552011
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
1432016
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
882012
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
842018
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
832016
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
722018
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
622011
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
562015
Cornelia de Lange syndrome
J Liu, G Baynam
Diseases of DNA Repair, 113-123, 2010
562010
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
502006
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
482018
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
482015
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
462013
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