James Silsby-Russ
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 14 publications
A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.
Journal: Diabetic medicine : a journal of the British Diabetic Association
Published: July 20, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Journal: American journal of human genetics
Published: July 14, 2026
Incorporating mtDNA Structural Variant Analysis Into Routine Genome Sequencing Increases Monogenic Diabetes Diagnosis at No Additional Cost.
Journal: Diabetes care
Published: May 22, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Journal: American journal of human genetics
Published: December 01, 2025
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.
Journal: Diabetes
Published: October 06, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Journal: The Journal of clinical investigation
Published: May 21, 2025
Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans.
Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025
Complete loss of PAX4 causes transient neonatal diabetes in humans.
Journal: Molecular metabolism
Published: March 28, 2025
Global perspectives on monogenic forms of diabetes.
Journal: Diabetologia
Published: February 24, 2025
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Journal: The Journal of experimental medicine
Published: September 18, 2023
Last Updated: 09/26/2026