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 help 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]
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.
^
abGabbett, 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.
^
abSimons, 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.
^Armsden, Justin (25 March 1992).
"Scholars Rewarded". Westside News.
Archived from the original on 3 December 2022. Retrieved 23 March 2024.
^Baas, AF; Gabbett, MT; Rimac, M; Kansikas, M; Raphael, M; Nievelstein, RAJ; Nicholls, W; Offerhaus, J; Bodmer, D; Wernstedt, A; Krabichler, B; Strasser, U; Nyström, M; Zschocke, J; Robertson, SP; Van Haelst, MM; Wimmer, K (2013). "Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome". European Journal of Human Genetics. 21 (1): 55–61.