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Ruth Charlton | Researchclopedia

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Ruth Charlton

St James's University Hospital

39

Works

2,730

Citations

18

h-index

20

i10-index

Research Topics

Cancer Genomics and Diagnostics Genetic factors in colorectal cancer Genomics and Rare Diseases

Affiliations

University of Leeds2006–2014

University of Cambridge1995–2017

Churchill Hospital1997–1997

St James's University Hospital2002–2023

Epsom and St Helier University Hospitals NHS Trust2020–2020

Top Works

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang,Bryan Howie,et al.

2015380 citations

Genetic Associations and Epidemiology

Cancer-related Molecular Pathways

Genomic deletions inMSH2 orMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA

Claire Taylor,Ruth Charlton,et al.

2003150 citations

PMS2 Mutations in Childhood Cancer

Michel De Vos,Bruce E. Hayward,et al.

200693 citations

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson,Laura A. Crinnion,et al.

201691 citations

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Audrey E. Hendricks,Elena G. Bochukova,et al.

201771 citations

Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study

Lucinda Teoh,Ameenat Lola Solebo,et al.

202169 citations

Extensive gene conversion at the<i>PMS2</i>DNA mismatch repair locus

Bruce E. Hayward,Michel De Vos,et al.

200757 citations

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Simon Haworth,Chin Yang Shapland,et al.

201940 citations

Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients

Angel OK Chan,W M But,et al.

201139 citations