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Frontiers in Endocrinology|April 10, 2023
Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New ZealandFrancesca Harrington, Mark Greenslade, Kevin Colclough, et al.Diabetes Care|June 9, 2016
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic DiabetesMaggie Shepherd, Beverley Shields, Suzanne Hammersley, et al.BMC Medical Genetics|April 5, 2020
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutationBegona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, et al.Human Mutation|January 26, 2013
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemiaKevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, et al.The Journal of Clinical Endocrinology and Metabolism|November 4, 2024
The Maturity-Onset Diabetes of the Young (MODY) Calculator Overestimates MODY Probability in Hispanic YouthGuido Alarcon, Anh Nguyen, Angus Jones, et al.Genetic Testing and Molecular Biomarkers|May 2, 2009
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic settingSian Ellard, Beverley Shields, Carolyn Tysoe, et al.The Journal of Clinical Endocrinology and Metabolism|October 13, 2006
Detection of thyroid dysfunction in early pregnancy: Universal screening or targeted high-risk case finding?Bijay Vaidya, Sony Anthony, Mary Bilous, et al.Endocrinology, Diabetes & Metabolism Case Reports|February 8, 2025
Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys)Emma L Prehn, Mairéad Crowley, David Fennell, et al.Wellcome Open Research|January 25, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosisMatthew N Wakeling, Thomas W Laver, Kevin Colclough, et al.Journal of Diabetes Investigation|June 23, 2016
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes centerEllen Ra Thomas, Anna Brackenridge, Julia Kidd, et al.Pageof 11