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BMC Genomics|June 3, 2024
Developmentally dynamic changes in DNA methylation in the human pancreasAilsa MacCalman, Elisa De Franco, Alice Franklin, et al.
Communications Medicine|October 4, 2023
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinionRinki Murphy, Kevin Colclough, Toni I Pollin, et al.
Diabetes|February 27, 2026
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune DiabetesGeorgia Bonfield, James Russ-Silsby, Suraj Ramchand, et al.
Diabetologia|February 17, 2018
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndromeAbdelhadi M Habeb, Sarah E Flanagan, Mohamed A Zulali, et al.
Diabetes Care|November 13, 2020
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated <i>ABCC8</i> Permanent Neonatal DiabetesPamela Bowman, Frances Mathews, Fabrizio Barbetti, et al.
Ebiomedicine|May 25, 2026
Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNAJasmin J Bennett, Thomas W Laver, Jonna M E Männistö, et al.
Cell Metabolism|January 14, 2014
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in manSarah E Flanagan, Elisa De Franco, Hana Lango Allen, et al.
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.
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.
Nature Genetics|November 12, 2013
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesisMichael N Weedon, Ines Cebola, Ann-Marie Patch, et al.
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