Следене
Gareth Baynam
Gareth Baynam
Clinical Professor, Faculty of Medicine and Health Sciences, University of Western
Потвърден имейл адрес: health.wa.gov.au
Заглавие
Позовавания
Позовавания
Година
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
8802021
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
6482017
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
4462020
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
4432017
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
3732017
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
3392015
Modeling 3D facial shape from DNA
P Claes, DK Liberton, K Daniels, KM Rosana, EE Quillen, LN Pearson, ...
PLoS genetics 10 (3), e1004224, 2014
3342014
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
3252016
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
2512020
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
2452017
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
1942016
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
1732017
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
1522022
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
1382019
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Статии 1–20