Helen Brittain

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Antonio Rueda Martin, Eleanor Williams, Rebecca E. Foulger et al. · Nature Genetics · 2019 · 594 citations

Life Sciences, Genetics, Molecular Genetics +8

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

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

Origins and impact of extrachromosomal DNA

Chris Bailey, Oriol Pich, Kerstin Thol et al. · Nature · 2024 · 142 citations · Full text

Medicine, Genetics, Oncology +14