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Diabetologia|March 2, 2026
Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODYThomas W Laver, Aparajita Sriram, Matthew N Wakeling, et al.
Acta Diabetologica|February 22, 2012
Cystatin C is not a good candidate biomarker for HNF1A-MODYNatalia Nowak, Magdalena Szopa, Gaya Thanabalasingham, et al.
Diabetes|November 25, 2025
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to IdentifyLuke N Sharp, Uyenlinh L Mirshahi, Kevin Colclough, et al.
Diabetes|August 4, 2016
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic DiabetesThomas W Laver, Kevin Colclough, Maggie Shepherd, et al.
Diabetes Care|October 14, 2025
Updating a Clinical Prediction Model for Identifying Monogenic Diabetes to Include Both Clinical Features and BiomarkersJulieanne Knupp, Pedro Cardoso, Katherine G Young, et al.
JCI Insight|June 10, 2024
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetesLaura Kind, Janne Molnes, Erling Tjora, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644CJulia Rankin, Michaela Auer-Grumbach, Warwick Bagg, et al.
Human Molecular Genetics|July 13, 2014
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stabilityAnne Raimondo, Ali J Chakera, Soren K Thomsen, et al.
Diabetes Care|November 10, 2019
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort StudyAnnelie Carlsson, Maggie Shepherd, Sian Ellard, et al.
Diabetes|January 27, 2021
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum StressHossam Montaser, Kashyap A Patel, Diego Balboa, et al.
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