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Diabetic Medicine : a Journal of the British Diabetic Association|November 7, 2024
A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetesRussell Donis, Kashyap A Patel, Matthew N Wakeling, et al.Diabetes|May 5, 2017
Dominant ER Stress-Inducing <i>WFS1</i> Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital CataractsElisa De Franco, Sarah E Flanagan, Takuya Yagi, et al.Diabetes|May 6, 2017
Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal DiabetesMatthew B Johnson, Elisa De Franco, Hana Lango Allen, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|November 23, 2025
Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinitySamar S Hassan, Salwa A Musa, Elisa De Franco, et al.American Journal of Human Genetics|March 21, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetesMatthew B Johnson, James Russ-Silsby, Paul A Blair, 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|December 29, 2019
De Novo Mutations in <i>EIF2B1</i> Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic DysfunctionElisa De Franco, Richard Caswell, Matthew B Johnson, et al.Diabetologia|October 8, 2020
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cellsMatthew B Johnson, Kashyap A Patel, Elisa De Franco, et al.Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
Complete Loss of PAX4 causes Transient Neonatal Diabetes in HumansJames Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, et al.Molecular Metabolism|July 4, 2025
Complete loss of PAX4 causes transient neonatal diabetes in humansJames Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, et al.Pageof 10