James Whitworth

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

Phillipe Taniere, Louise Izatt, Douglas E V Pires, 2017, Molecular genetics & genomic medicine.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.