Jenny C. Taylor

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Claire Palles, Jean‐Baptiste Cazier, Kimberley Howarth et al. · Nature Genetics · 2012 · 1K citations · Full text

Life Sciences, Genetics, Oncology +14

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate Thomson, James S. Ware et al. · Genetics in Medicine · 2016 · 758 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise et al. · Nature Genetics · 2015 · 388 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

David N. Church, Sarah Briggs, Claire Palles et al. · Human Molecular Genetics · 2013 · 363 citations · Full text

Life Sciences, Genetics, Oncology +17