• The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth


  • 6384 Citations
  • 38 h-Index
1986 …2019
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Personal profile


A/Prof Scott Wilson is a research scientist with 30 years of experience in endocrinology and genetics including clinical and basic scientific research. The major focus of his current research is the genetic basis of common complex disease, including thyroid, mental health and bone disease.

A/Prof Wilson heads the laboratory at the Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Western Australia (1 of the 3 major Teaching Hospitals in WA) and is actively involved in the Molecular Genetics laboratory. His current appointments include: Principal Investigator/Senior Medical Scientist in Charge (Head of Laboratory), Endocrinology & Diabetes, Sir Charles Gairdner Hospital, 2017 – present; Senior Lecturer (Visiting), King’s College London, UK, 2018 – present; Adjunct Associate Professor, The University of Western Australia, 2007 – present.

He previously led the Molecular Endocrine Genetics laboratory in that department; he returned to Australia from Cambridge, UK to take up that role. Prior to that he was Head of the Clinical Division of Sequenom-Gemini Ltd in Cambridge, UK, where he managed the function of five clinical service departments. Earlier, as a Senior Research Fellow at Gemini Genomics PLC in Cambridge UK, he headed a multi-centre international collaborative study, completing two whole-genome screens and downstream positional cloning of complex disease genes. He played a major role in the industrialisation of protocols for GeneChips (Affymetrix) in the year 2000 including pilot genome-wide association studies, which were a foundation of the modern GWAS. A/Prof Wilson also worked with scientists at Celera Genomics in 2001 on a collaborative gene discovery project that reached a successful endpoint in December of that year. Prior, CIA worked at University of WA as a Research Officer and gained training in genetic analysis at the Garvan Institute.


Contribution to field of research: 3 recent highly influential Nature publications, 2 as the result of direct high-level participation, see author contributions in PMID: 26367797; a “Big Science” study resulting in a landmark publication. Also PMID: 26367794, a cornerstone publication providing rationale for whole genome sequencing in the study of complex traits and disease. Likewise, CIA was the PI/Senior author on PMID: 25743335, which entailed a very large amount of research work including rare variant, GRS analysis, variance explained analysis, eQTL, meQTL and chemogenomic analyses. Summary of key publications: Nature (3), Lancet (1), Nat Genet (3), Nat Commun (4), Am J Hum Genet (7), PLoS Genet (5), BMC Med Genet (3), Hum Mol Genet (2), Eur J Hum Genet (2), J Bone Miner Res (the premier journal in the bone field; 5), J Clin Endocrinol Metab (the premier journal in the endocrine field; 6). There are 26 publications specifically from NHMRC grants (last 5 years). Some key examples of CIA functional studies include PMID: 24840563, 21784188, 19453265, 29473973, 19470632.

Patents: A/Prof Wilson currently has filed 8 local and international patents.

Collaborations: Collaborates with international leaders concerning endocrine phenotypes, thyroid phenotypes and bone phenotypes, including BLTS/QIMR endocrine, International GEFOS consortium, UK10K Consortium, Prof Nicole Soranzo - Wellcome Sanger Institute (UK), A/Prof Brent Richards - McGill University (Canada), International PCOS consortium, International ThyroidOmics consortium, Dr John Perry - University of Cambridge (UK), Dr Nicholas Timpson -University of Bristol (UK), The Pawsey Supercomputing Centre, among others.

Professional involvement: He is a member of ASHG, ASBMR, ANZBMS, AIMS, ACPSEM. He served on the Scientific Program Organising Committee for the Australian and New Zealand Bone and Mineral Society and was on the Scientific Program Organising Committee for the International Bone and Hormone Meeting (Hamilton Island). He has also served on Local Organising Committees for other international (Perth International Bone & Hormone Conference) and national meetings (Endocrine Society of Australia; New Zealand Bone and Mineral Society; Australasian Human Gene Mapping).

International standing: Participates actively in numerous international GWAS meta-analysis consortia centred on endocrine phenotypes. Recent research presented at: the American Society for Human Genetics, American Society for Bone and Mineral Research 2017, Epigenomics of Common Disease Conference (UK) 2017, the 1st Australia-China Conference on Science, Technology and Innovation. 2017; chaired the Genetics and Novel Technology session and a platform presentation.

Supervision and mentoring: Extensive experience supervising and mentoring acting as supervisor for 3 PhD (1 current), 21 Hons, 1 Masters (1 current) plus undergrads.

Editorial/Peer review responsibilities: Performs regular peer review for leading international journals, including Nat Genet, Ann Hum Genet, PLoS Genet, Am J Hum Genet, Osteoporosis International, Bone, Calcif Tissue Int, Hum Mol Genet, Ann Hum Biol, BMC Bioinformatics.

Contributions to NHMRC: NHMRC Grant Review Panel - Genetics on 3 occasions and annually provides reviews on grant applications for the NHMRC (including project and fellowship schemes).

Fingerprint Dive into the research topics where Scott Wilson is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1986 2019

  • 6384 Citations
  • 38 h-Index
  • 91 Article
  • 35 Abstract
  • 1 Book
  • 1 Literature review
7 Citations (Scopus)
1 Downloads (Pure)

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

UK10K Consortium & Wilson, S., Feb 2019, In : Nature Genetics. 51, 2, p. 343-+ 13 p.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)
Open Access
Osteitis Deformans
Quantitative Trait Loci
Genome-Wide Association Study
11 Citations (Scopus)

Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association Studies

Baird, D. A., Evans, D. S., Kamanu, F. K., Gregory, J. S., Saunders, F. R., Giuraniuc, C. V., Barr, R. J., Aspden, R. M., Jenkins, D., Kiel, D. P., Orwoll, E. S., Cummings, S. R., Lane, N. E., Mullin, B. H., Williams, F. M., Richards, J. B., Wilson, S. G., Spector, T. D., Faber, B. G., Lawlor, D. A. & 10 othersGrundberg, E., Ohlsson, C., Pettersson-Kymmer, U., Capellini, T. D., Richard, D., Beck, T. J., Evans, D. M., Paternoster, L., Karasik, D. & Tobias, J. H., Feb 2019, In : Journal of Bone & Mineral Research. 34, 2, p. 241-251 11 p.

Research output: Contribution to journalArticle

Open Access
Hip Osteoarthritis
Osteoporotic Fractures
Photon Absorptiometry
3 Citations (Scopus)

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

UK10K Consortium, 21 Jan 2019, In : Nature Communications. 10, 1, 16 p., 357.

Research output: Contribution to journalArticle

Open Access
low frequencies
Genetic Models
Human Development
1 Citation (Scopus)

Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometry

Hsu, Y. H., Estrada, K., Evangelou, E., Ackert-Bicknell, C., Akesson, K., Beck, T., Brown, S. J., Capellini, T., Carbone, L., Cauley, J., Cheung, C. L., Cummings, S. R., Czerwinski, S., Demissie, S., Econs, M., Evans, D., Farber, C., Gautvik, K., Harris, T., Kammerer, C. & 32 othersKemp, J., Koller, D. L., Kung, A., Lawlor, D., Lee, M., Lorentzon, M., McGuigan, F., Medina-Gomez, C., Mitchell, B., Newman, A., Nielson, C., Ohlsson, C., Peacock, M., Reppe, S., Richards, J. B., Robbins, J., Sigurdsson, G., Spector, T. D., Stefansson, K., Streeten, E., Styrkarsdottir, U., Tobias, J., Trajanoska, K., Uitterlinden, A., Vandenput, L., Wilson, S. G., Yerges-Armstrong, L., Young, M., Zillikens, C., Rivadeneira, F., Kiel, D. P. & Karasik, D., 19 Mar 2019, In : Journal of Bone & Mineral Research. 13 p., e3698.

Research output: Contribution to journalArticle

Pelvic Bones
Genetic Association Studies
Femur Neck

Projects 2008 2019