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Diabetologia|July 16, 2025
Global perspectives on monogenic forms of diabetesJames Russ-Silsby, Milena Teles, Samar S Hassan, et al.
Clinical Genetics|July 20, 2022
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephalyElisa De Franco, Matthew N Wakeling, Russel D Frew, et al.
Ebiomedicine|May 10, 2026
Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetesSuhel Ahmed, Victoria Lewis, James Russ-Silsby, et al.
Ebiomedicine|January 7, 2026
Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetesJames Russ-Silsby, Kevin Colclough, Matthew B Johnson, et al.
Diabetes|August 28, 2023
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes MellitusJames Russ-Silsby, Kashyap A Patel, Thomas W Laver, 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.
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.
Diabetes|February 27, 2026
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune DiabetesGeorgia Bonfield, James Russ-Silsby, Suraj Ramchand, et al.
The Journal of Experimental Medicine|April 18, 2024
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiencyMatthew B Johnson, Masato Ogishi, Clara Domingo-Vila, et al.
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