Seuraa
Gareth Baynam
Gareth Baynam
Clinical Professor, Faculty of Medicine and Health Sciences, University of Western
Vahvistettu sähköpostiosoite verkkotunnuksessa health.wa.gov.au
Nimike
Viittaukset
Viittaukset
Vuosi
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
8742021
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
7382019
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
6462017
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
4412017
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
4362020
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
3722017
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
3402015
Modeling 3D facial shape from DNA
P Claes, DK Liberton, K Daniels, KM Rosana, EE Quillen, LN Pearson, ...
PLoS genetics 10 (3), e1004224, 2014
3332014
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
3242016
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
2502020
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, 2017
2432017
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
2382015
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
2132011
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
1962016
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
1932016
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, 2017
1722017
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
1512022
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
1492019
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
1402018
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
1372019
Järjestelmä ei voi suorittaa toimenpidettä nyt. Yritä myöhemmin uudelleen.
Artikkelit 1–20