Article
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Acta diabetologica - 1 Feb 2024
De Sousa Sunita M C, Wu Kathy H C, Colclough Kevin, Rawlings Lesley, Dubowsky Andrew, Monnik Melissa, Poplawski Nicola, Scott Hamish S, Horowitz Michael, Torpy David J
Abstract excerpt
AIMS: This study aims to describe the prevalence of monogenic diabetes in an Australian referral cohort, in relation to Exeter maturity-onset diabetes of the young (MODY) probability calculator (EMPC) scores and next-generation sequencing with updated testing where relevant. METHODS: State-wide 5-year retrospective cohort study of individuals referred for monogenic diabetes genetic testing. RESULTS: After...
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