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 · 272 citations · Full text

Bioinformatics, Whole-genome Sequencing, Functional Genomics +15

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Suzanne Drury, Hywel Williams, Natalie Trump et al. · Prenatal Diagnosis · 2015 · 225 citations · Full text

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 · 206 citations · Full text

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 · 164 citations · Full text

Genome Instability, Medicine, Genetics +11

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 · 150 citations · Full text