Richard C. Caswell
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 62 publications
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.
Journal: bioRxiv : the preprint server for biology
Published: March 27, 2026
Case report of three siblings with nudix hydrolase 2 -related neurodevelopmental disorder.
Journal: Clinical dysmorphology
Published: March 12, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Journal: Annals of neurology
Published: March 16, 2025
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: October 28, 2024
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
Journal: Human molecular genetics
Published: October 27, 2023
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
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Journal: European journal of human genetics : EJHG
Published: September 14, 2023
Primate-specific ZNF808 is essential for pancreatic development in humans.
Journal: Nature genetics
Published: February 14, 2023
Last Updated: 09/26/2026