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Diabetes|April 4, 2014
GATA4 mutations are a cause of neonatal and childhood-onset diabetesCharles Shaw-Smith, Elisa De Franco, Hana Lango Allen, et al.
The New England Journal of Medicine|August 4, 2006
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutationsEwan R Pearson, Isabelle Flechtner, Pål R Njølstad, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|August 31, 2025
Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variantsRussell Donis, Matthew N Wakeling, Nicola Jeffery, et al.
Wellcome Open Research|August 27, 2020
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndromeIndraneel Banerjee, Senthil Senniappan, Thomas W Laver, et al.
Geroscience|July 21, 2025
Advancing clinical trial readiness in white matter disease and related dementias: key steps for future research progressPradoldej Sompol, Gregory A Jicha, Jason D Hinman, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2024
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic AnalysesJonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, et al.
The Lancet. Diabetes & Endocrinology|June 9, 2018
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort studyPamela Bowman, Åsta Sulen, Fabrizio Barbetti, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 15, 2007
Insulin gene mutations as a cause of permanent neonatal diabetesJulie Støy, Emma L Edghill, Sarah E Flanagan, et al.
Diabetologia|October 23, 2021
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinicsKashyap A Patel, Mehmet N Ozbek, Melek Yildiz, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|December 24, 2025
Basic Science and PathogenesisKaren Nuytemans, Liyong Wang, Luciana Bertholim Nasciben, et al.
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