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
Fingerprint
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.
- 1 Similar Profiles
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
-
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Titin Research Consortium, Coppens, S., Deconinck, N., Sullivan, P., Smolnikov, A., Clayton, J. S., Griffin, K. R., Jones, K. J., Vilain, C. N., Kadhim, H., Bryen, S. J., Faiz, F., Waddell, L. B., Evesson, F. J., Bakshi, M., Pinner, J. R., Charlton, A., Brammah, S., Graf, N. S. & Krivanek, M. & 52 others, , Apr 2025, In: Annals of Neurology. 97, 4, p. 611-628 18 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Digital health technology use in clinical trials of rare diseases: a systematic review
Mao, X., Zeng, D., Wang, X., Pearce, D. A., Baynam, G., Chavannes, N. H., Chung, W. K., Wu, H., Tham, Y. C., Zhang, S., Li, G. & Wong, T. Y., 31 Oct 2025, In: Communications Medicine. 5, 10 p., 449.Research output: Contribution to journal › Article › peer-review
Open Access -
Feasibility and clinical utility of daytime polysomnography performed in NICU to diagnose sleep disordered breathing in infants
Goel, D., Wilson, A., O'Donnell, A., Lappin, C., Plavsic, R., Verstandig, T., Rao, S., Bulsara, M. K., Francis, K., Dunstan, C., Baynam, G. & Waters, K., 14 Aug 2025, In: BMJ Paediatrics Open. 9, 1, 9 p., e003641.Research output: Contribution to journal › Article › peer-review
Open Access -
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case
Groza, T., Rayabsri, W., Gration, D., Hariram, H., Jamuar, S. S. & Baynam, G., 1 May 2025, In: American Journal of Human Genetics. 112, 5, p. 1158-1172 15 p.Research output: Contribution to journal › Article › peer-review
-
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism
Shaw, N. C., Harrison, S., Chen, K., Forbes, C. A., Kuzminski, E., Hedges, M., Farley, K. O., Ward, M., Loughman, L., Poulton, C., Baynam, G., Lassmann, T. & Fear, V. S., Dec 2025, In: Molecular Medicine. 31, 1, 300.Research output: Contribution to journal › Article › peer-review
Open Access
Datasets
-
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, 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
Dataset
-
The psychosocial impact of childhood dementia on children and their parents: a systematic review
Nevin, S. M. (Contributor), McGill, B. C. (Contributor), Kelada, L. (Contributor), Hilton, G. (Contributor), Maack, M. (Contributor), Elvidge, K. L. (Contributor), Farrar, M. A. (Contributor), Baynam, G. (Contributor), Katz, N. T. (Contributor), Donovan, L. (Contributor), Grattan, S. (Contributor), Signorelli, C. (Contributor), Bhattacharya, K. (Contributor), Nunn, K. (Contributor) & Wakefield, C. E. (Contributor), Figshare, 22 Nov 2023
DOI: 10.6084/m9.figshare.c.6825125
Dataset
-
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
-
Additional file 3 of Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
Fear, V. S. (Creator), Forbes, C. A. (Creator), Shaw, N. C. (Creator), Farley, K. O. (Creator), Mantegna, J. L. (Creator), Htun, J. P. (Creator), Syn, G. (Creator), Viola, H. (Creator), Cserne Szappanos, H. (Creator), Hool, L. (Creator), Ward, M. (Creator), Baynam, G. (Creator) & Lassmann, T. (Creator), Figshare, 14 Aug 2024
DOI: 10.6084/m9.figshare.26649507.v1, https://springernature.figshare.com/articles/dataset/Additional_file_3_of_Gene_editing_and_cardiac_disease_modelling_for_the_interpretation_of_genetic_variants_of_uncertain_significance_in_congenital_heart_disease/26649507/1
Dataset
-
Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci, I. (Creator), Dang, N. D. P. (Creator), Huber, H. (Creator), Murry, J. B. (Creator), Abramson, J. (Creator), Althoff, T. (Creator), Banka, S. (Creator), Baynam, G. (Creator), Bearden, D. (Creator), Beleza-Meireles, A. (Creator), Benke, P. J. (Creator), Berland, S. (Creator), Bierhals, T. (Creator), Bilan, F. (Creator), Bindoff, L. A. (Creator), Braathen, G. J. (Creator), Busk, Ø. L. (Creator), Chenbhanich, J. (Creator), Denecke, J. (Creator), Escobar, L. F. (Creator), Estes, C. (Creator), Fleischer, J. (Creator), Groepper, D. (Creator), Haaxma, C. A. (Creator), Hempel, M. (Creator), Holler-Managan, Y. (Creator), Houge, G. (Creator), Jackson, A. (Creator), Kellogg, L. (Creator), Keren, B. (Creator), Kiraly-Borri, C. (Creator), Kraus, C. (Creator), Kubisch, C. (Creator), Le Guyader, G. (Creator), Ljungblad, U. W. (Creator), Brenman, L. M. (Creator), Martinez-Agosto, J. A. (Creator), Might, M. (Creator), Miller, D. T. (Creator), Minks, K. Q. (Creator), Moghaddam, B. (Creator), Nava, C. (Creator), Nelson, S. F. (Creator), Parant, J. M. (Creator), Prescott, T. (Creator), Rajabi, F. (Creator), Randrianaivo, H. (Creator), Reiter, S. F. (Creator), Schuurs-Hoeijmakers, J. (Creator), Shieh, P. B. (Creator), Slavotinek, A. (Creator), Smithson, S. (Creator), Stegmann, A. P. A. (Creator), Tomczak, K. (Creator), Tveten, K. (Creator), Wang, J. (Creator), Whitlock, J. H. (Creator), Zweier, C. (Creator), McWalter, K. (Creator), Juusola, J. (Creator), Quintero-Rivera, F. (Creator), Fischer, U. (Creator), Yeo, N. C. (Creator), Kreienkamp, H.-J. (Creator) & Lessel, D. (Creator), Figshare, 22 May 2021
DOI: 10.6084/m9.figshare.14643203, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643203
Dataset
-
LINEAGE – Law, sociology and ethics in data governance for genomics
Rizzi, M. (Investigator 01) & Baynam, G. (Investigator 02)
Medical Research Future Fund MRFF
1/11/22 → 31/10/27
Project: Research
-
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)
Medical Research Future Fund MRFF
1/06/22 → 31/05/27
Project: Research
-
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)
NHMRC National Health and Medical Research Council
1/01/22 → 31/12/26
Project: Research
-
GNT2007567 - The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases.
Christodoulou, J. (Investigator 01), Baynam, G. (Investigator 02), White, S. (Investigator 03), Palmer, E. (Investigator 04), Hermes, A. (Investigator 05), McGaughran, J. (Investigator 06), Lassmann, T. (Investigator 07), Sallevelt, S. (Investigator 08), Tan, T. (Investigator 09) & Wallis, M. (Investigator 10)
Medical Research Future Fund MRFF
1/06/21 → 31/12/25
Project: Research
-
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)
Medical Research Future Fund MRFF
1/12/26 → 30/11/31
Project: Research