Richard Caswell
17PUBLICATIONS
90CO-AUTHORS
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Publications (17)
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|Feb 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.Lettie E Rawlins, Philip H Iffland, John Page
|Apr 18, 2024
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila
|Apr 11, 2024
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.Thomas W Laver, Matthew N Wakeling, Richard C Caswell
|Mar 04, 2024
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.Alba Kaci, Marie Holm Solheim, Trine Silgjerd
|Nov 17, 2023
Primate-specific ZNF808 is essential for pancreatic development in humans.Elisa De Franco, Nick D L Owens, Hossam Montaser
|Nov 07, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.Ronit Marom, Bo Zhang, Megan E Washington
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Frequent Collaborators
4 joint publications
Matthew N Wakeling
3 joint publications
Sarah E Flanagan
2 joint publications
Thomas W Laver
2 joint publications
Sian Ellard
2 joint publications
Caroline F Wright
2 joint publications
Elisa De Franco
2 joint publications
Nick D L Owens
2 joint publications
Andrew T Hattersley
1 joint publications
M Splitt
1 joint publications
Martina M Owens
