Helen Brittain
Genomics England(GB)Birmingham Women’s and Children’s NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels(2019)571 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Substitution mutational signatures in whole-genome–sequenced cancers in the UK population(2022)273 cited
- → Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis(2016)208 cited
- → The rise of the genome and personalised medicine(2017)190 cited
- → A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage(2021)165 cited
- → Origins and impact of extrachromosomal DNA(2024)122 cited
- → Signatures of TOP1 transcription-associated mutagenesis in cancer and germline(2022)81 cited
- → Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution(2021)75 cited
- → Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features(2022)73 cited