Philip Twiss

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

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Non‐invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

Melissa Hill, Philip Twiss, Talitha I. Verhoef et al. · Prenatal Diagnosis · 2015 · 104 citations · Full text

Medicine, Genetics, Obstetrics +17

The colorectal cancer risk at 18q21 is caused by a novel variant altering <i>SMAD7</i> expression

Alan Pittman, Silvia Naranjo, Emily L. Webb et al. · Genome Research · 2009 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H

Alan Pittman, Silvia Naranjo, Sanni E. Jalava et al. · PLoS Genetics · 2010 · 82 citations · Full text

Life Sciences, Genetics, Oncology +17