Gareth Baynam

Clinical Professor, Faculty of Health and Medical Sciences, Paediatrics

Emailgareth.baynam@uwa.edu.au

The University of Western Australia (M561), 35 Stirling Highway,
6009 Perth
Australia

1518 Citations
21 h-Index

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9 Similar Profiles

Rare Diseases Medicine & Life Sciences

Phenotype Medicine & Life Sciences

Mutation Medicine & Life Sciences

Genes Medicine & Life Sciences

Inborn Genetic Diseases Medicine & Life Sciences

Intellectual Disability Medicine & Life Sciences

Public Health Medicine & Life Sciences

Exome Medicine & Life Sciences

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Research Output 2006 2019

1518 Citations
21 h-Index
52 Article
16 Review article
5 Letter
3 Chapter
6 More

4 Citations (Scopus)

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., Mackay, D., Temple, I. K., Visel, A. & Baynam, G., 21 Mar 2019, In : Cell. 177, 1, p. 32-37 6 p.

Research output: Contribution to journal › Comment/debate

Inborn Genetic Diseases

Rare Diseases

Exome

Optimism

3 Citations (Scopus)

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Woodward, K. J., Stampalia, J., Vanyai, H., Rijhumal, H., Potts, K., Taylor, F., Peverall, J., Grumball, T., Sivamoorthy, S., Alinejad-Rokny, H., Wray, J., Whitehouse, A., Nagarajan, L., Scurlock, J., Afchani, S., Edwards, M., Murch, A., Beilby, J., Baynam, G., Kiraly-Borri, C. & 2 othersMcKenzie, F. & Heng, J. I. T., Feb 2019, In : Molecular genetics & genomic medicine. 7, 2, 17 p., 507.

Research output: Contribution to journal › Article

Open Access

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Minerva Consortium, 29 Jul 2019, In : Frontiers in Genetics. 10, 9 p., 611.

Research output: Contribution to journal › Article

Open Access

38 Citations (Scopus)

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Koehler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M. & 49 othersJansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yueksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X. A., Gomez-Andres, D., Lochmueller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J. D., Leroux, D., Boerkoel, C. F., Klion, A., Carter, M. C., Groza, T., Smedley, D., Haendel, M. A., Mungall, C. & Robinson, P. N., 8 Jan 2019, In : Nucleic Acids Research. 47, D1, p. D1018-D1027 10 p.

Research output: Contribution to journal › Article

Open Access

2 Citations (Scopus)