Jenny C. Taylor

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

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

Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Peter Donnelly, Jonathan Grimes, Gilean McVean, 2012, Nature Genetics.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

A. Pagnamenta, C. Shaw-Smith, N. Canham, 2024, American journal of human genetics.