Gabbett was joint first author on the paper that demonstrated biallelic mutations in the mismatch repair genes are associated with malfomations of the brain.[13][14][15] Gabbett and colleagues helped define the oculoauriculofrontonasal syndrome.[16][17] In 2015, Gabbett and his molecular genetic colleagues demonstrated the cause of Temple Baraitser syndrome, a condition that Gabbett clinically defined seven years earlier.[8][9] Gabbett and Nick Fisk were able to postulate, with supportive molecular evidence, how semi-identical (sesquizygotic) twinning is the result of a single egg being fertilized by two sperm from the same man.[6]
Service to professional organisations
Gabbett has contributed to authorship of the Australasian clinical genetics training curriculum,[18] and led the 2022 working party that made recommendations to medical schools on their genomics curriculum.[19] For three years (2015-2018), he was chair of the scientific programme and the local organising committees (Lead Fellow) for RACP Congress, the annual scientific meeting of the Royal Australasian College of Physicians.[20][21][22] Gabbett has served as president of the Australasian Association of Clinical Geneticists (2017-2019).[23] From 2018 to 2022, Gabbett sat on Council of the Human Genetics Society of Australasia as Treasurer.[24]
Queensland University of Technology, Centre for Genomics & Personalised Health
Education & Outreach Award
For demonstrating exceptional leadership as Course Co-ordinator for QUT's Master of Diagnostic Genomics Course and for contributing to the delivery of high quality and impactful professional development courses across Australia.
References
↑ QUT. "Michael Gabbett". Academic profiles. Queensland University of Technology. Archived from the original on 2022-12-03. Retrieved 2022-12-03.
↑ School of Medicine and Dentistry. "Academic Title Holders". Griffith University. Archived from the original on 2022-12-03. Retrieved 2022-12-03.
1 2 Gabbett, MT; Clark, RC; McGaughran, JM (2008). "A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)". Am J Med Genet A. 146A (4): 450–452. doi:10.1002/ajmg.a.32129. ISSN1552-4833. PMID18203178. S2CID2532859.
1 2 Simons, Cas; Rash, Lachlan D; Crawford, Joanna; Ma, Linlin; Cristofori-Armstrong, Ben; Miller, David; Ru, Kelin; Baillie, Gregory J; Alanay, Yasemin; Jacquinet, Adeline; Debray, François-Guillaume; Verloes, Alain; Shen, Joseph; Yesil, Gözde; Guler, Serhat; Yuksel, Adnan; Cleary, John G; Grimmond, Sean M; McGaughran, Julie; King, Glenn F; Gabbett, Michael T; Taft, Ryan J (2015). "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple–Baraitser syndrome and epilepsy". Nat Genet. 47 (1): 73–77. doi:10.1038/ng.3153. ISSN1546-1718. PMID25420144. S2CID52799681.
This page is based on this Wikipedia article Text is available under the CC BY-SA 4.0 license; additional terms may apply. Images, videos and audio are available under their respective licenses.