C. R. Boustred
Genomics England(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics
Most-Cited Works
- → Substitution mutational signatures in whole-genome–sequenced cancers in the UK population(2022)273 cited
- → Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities(2015)226 cited
- → Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis(2016)208 cited
- → A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage(2021)165 cited
- → X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3(2017)151 cited
- → Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities(2015)139 cited
- → CHD2variants are a risk factor for photosensitivity in epilepsy(2015)136 cited
- → High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations(2017)88 cited
- → Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol(2014)84 cited
- → Signatures of TOP1 transcription-associated mutagenesis in cancer and germline(2022)81 cited