Research output per year
Research output per year
Personal profile
External positions
Clinical Professor, John Curtin School of Medical Research, Australian National University
Founder, Cliniface
Director, Collaborative Centre for Research and Innovation Excellence for Rare and Undiagnosed Disease
A/Professor, School of Earth and Planetary Sciences, Curtin University
Adjunct Professor, School of Medical and Health Sciences, Edith Cowan University
Chair, Interdisciplinary Scientific Committee, International Rare Diseases Research Consortium
Founder, Lyfe Languages
Medical Lead, Rare Diseases, Perth Children’s Hospital
Medical Director, Rare Care Centre
A/Professor, School of Population and Global Health, University of Melbourne
Clinical Professor, Faculty of Medicine, University of Notre Dame (Australia)
Head, Western Australian Register of Developmental Anomalies
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Dive into the research topics where Gareth Baynam is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease
Forbes, C. A., Shaw, N. C., Chen, K. G., Hedges, M., Er, T. S., Hool, L., Ward, M., Poulton, C., Baynam, G., Lassmann, T. & Fear, V. S., Dec 2026, In: Human genomics. 20, 1, 29.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Citation (Scopus) -
Australia’s top 10 rare disease research priorities: a priority setting partnership
Sivaramakrishnan, H., Reilly, M., Jaffe, A., Baynam, G., Helwani, F., McKenzie, A. & Finlay-Jones, A., Dec 2026, In: Journal of Rare Diseases (Germany). 5, 1, 5.Research output: Contribution to journal › Article › peer-review
Open Access -
Etiology of Severe Microcephaly in Infants: A Multinational Surveillance Study
Farrar, D. S., Knowles, R. L., Nunez, C., Baynam, G., Bitnun, A., Duncanson, M., Lynn, R. M., Moore Hepburn, C., Morris, A., Oeser, C., Pebody, R., Solebo, A. L., Elliott, E. J. & Morris, S. K., Feb 2026, In: Pediatrics. 157, 2, 11 p., e2025072700.Research output: Contribution to journal › Article › peer-review
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Functional skills in MECP2 duplication syndrome: developmental dynamics and regression
Ta, D., Downs, J., Baynam, G., Richmond, P., Wilson, A. & Leonard, H., Dec 2026, In: Orphanet Journal of Rare Diseases. 21, 1, 16.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Citation (Scopus) -
Language in rare disease: a call for systemic and empathetic action
Baynam, G., Boycott, K. M., Johnson, K. & Mckay, L., 28 Mar 2026, In: The Lancet. 407, 10535, p. 1216-1218 3 p.Research output: Contribution to journal › Comment/debate › peer-review
2 Link opens in a new tab Citations (Scopus)
Datasets
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Additional file 2 of Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling
Shaw, N. C. (Creator), Chen, K. (Creator), Farley, K. O. (Creator), Hedges, M. (Creator), Forbes, C. (Creator), Baynam, G. (Creator), Lassmann, T. (Creator) & Fear, V. S. (Creator), Figshare, 1 Oct 2024
DOI: 10.6084/m9.figshare.27140535.v1, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Identifying_SETBP1_haploinsufficiency_molecular_pathways_to_improve_patient_diagnosis_using_induced_pluripotent_stem_cells_and_neural_disease_modelling/27140535/1
Dataset
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Additional file 2 of Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism
Shaw, N. C. (Creator), Harrison, S. (Creator), Chen, K. (Creator), Forbes, C. A. (Creator), Kuzminski, E. (Creator), Hedges, M. (Creator), Farley, K. O. (Creator), Ward, M. (Creator), Loughman, L. (Creator), Poulton, C. (Creator), Baynam, G. (Creator), Lassmann, T. (Creator) & Fear, V. S. (Creator), Figshare, 30 Sept 2025
DOI: 10.6084/m9.figshare.30240448
Dataset
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling
Shaw, N. C. (Contributor), Chen, K. (Contributor), Farley, K. O. (Contributor), Hedges, M. (Contributor), Forbes, C. (Contributor), Baynam, G. (Contributor), Lassmann, T. (Contributor) & Fear, V. S. (Contributor), Figshare, 1 Oct 2024
DOI: 10.6084/m9.figshare.c.7474071
Dataset
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“This is my boy’s health! Talk straight to me!” perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services
Dalach, P. (Creator), Savarirayan, R. (Creator), Baynam, G. (Creator), McGaughran, J. (Creator), Kowal, E. (Creator), Massey, L. (Creator), Jenkins, M. (Creator), Paradies, Y. (Creator) & Kelaher, M. (Creator), Figshare, 18 Apr 2021
DOI: 10.6084/m9.figshare.c.5393307
Dataset
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Culturally competent communication in Indigenous disability assessment: a qualitative study
Ferdinand, A. (Creator), Massey, L. (Creator), Cullen, J. (Creator), Temple, J. (Creator), Meiselbach, K. (Creator), Paradies, Y. (Creator), Baynam, G. (Creator), Savarirayan, R. (Creator) & Kelaher, M. (Creator), Figshare, 2 Mar 2021
DOI: 10.6084/m9.figshare.c.5323636
Dataset
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LINEAGE – Law, sociology and ethics in data governance for genomics 2015531
Rizzi, M. (Investigator 01) & Baynam, G. (Investigator 02)
MRFF Medical Research Future Fund
1/11/22 → 31/03/28
Project: Research
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Pathways to Benefit for Indigenous Australians in Genomic Medicine
Brown, A. (Investigator 01), Nagaraj, S. H. (Investigator 02), O'[email protected], N. (Investigator 03), Pratt, G. (Investigator 04), Griffiths, K. (Investigator 05), Dinger, M. (Investigator 06), Gaff, C. (Investigator 07), McGaughran, J. (Investigator 08), Brown, N. (Investigator 09), Hypponen, E. (Investigator 10), Baynam, G. (Investigator 11), Kovacic, J. (Investigator 12), Toombs, M. (Investigator 13), Morey, K. (Investigator 14), Yang, J. (Investigator 15), Breen, J. (Investigator 16), MacArthur, D. (Investigator 17), Wenitong, M. (Investigator 18) & Pearson, G. (Investigator 19)
MRFF Medical Research Future Fund
1/06/22 → 31/05/27
Project: Research
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Respecting the Gift - Empowering Indigenous Communities in Genomic Medicine
Brown, A. (Investigator 01), Hermes, A. (Investigator 02), Pratt, G. (Investigator 03), Griffiths, K. (Investigator 04), Mann, G. (Investigator 05), Easteal, S. (Investigator 06), Ilamas, B. (Investigator 07), Baynam, G. (Investigator 08), Huebner, S. (Investigator 09), MacArthur, D. (Investigator 10) & Pearson, G. (Investigator 11)
1/01/22 → 31/12/26
Project: Research
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Aboriginal Partnerships for Paediatric Lung health Excellence (APPLE-3)
Schultz, A. (Investigator 01), Chang, A. (Investigator 02), Toombs, M. (Investigator 03), Versteegh, L. (Investigator 04), Barwick, M. (Investigator 05), Cooper, M. (Investigator 06), Mascaro, S. (Investigator 07), Norman, R. (Investigator 08), Shah, S. (Investigator 09), Sheppard, C. (Investigator 10) & Baynam, G. (Investigator 11)
MRFF Medical Research Future Fund
1/12/26 → 30/11/31
Project: Research
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Mental health disorders among individuals with craniofacial anomalies: A Western Australian population data-linkage study.
Junaid, M. (Investigator 01), Slack-Smith, L. (Investigator 02), Leonard, H. (Investigator 03), Baynam, G. (Investigator 04), Murray, K. (Investigator 05), Chen, W. (Investigator 06), Hewitt, T. (Investigator 07), Wong, K. (Investigator 08) & Bourke, J. (Investigator 09)
Australian Cranio-Maxillo Facial Foundation
1/04/22 → 31/03/25
Project: Research