C. R. Boustred

Substitution mutational signatures in whole-genome–sequenced cancers in the UK population

Andrea Degasperi, Xueqing Zou, Tauanne Dias Amarante et al. · Science · 2022 · 284 citations · Full text

Life Sciences, Genetics, Oncology +14

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Suzanne Drury, Hywel Williams, Natalie Trump et al. · Prenatal Diagnosis · 2015 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Natalie Trump, Amy McTague, Helen Brittain et al. · Journal of Medical Genetics · 2016 · 211 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou, Gene Ching Chiek Koh, Arjun S. Nanda et al. · Nature Cancer · 2021 · 165 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali Patel, Amelia Shoemark et al. · Nature Communications · 2017 · 151 citations · Full text

Life Sciences, Genetics, Molecular Biology +16