Ruth Charlton - Concepedia

Author

Ruth Charlton

Also Known As

Alastair Kent, Keren Carss, R Charlton, R S Charlton, R. CHARLTON, R. Charlton, R. S. Charlton, R.S. Charlton, Ruth Charlton, Ruth S. Charlton

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

St James's University Hospital University of Leeds University of Cambridge Addenbrooke's Hospital Wellcome Trust

About

Ruth Charlton is an author at St James's University Hospital specializing in medicine, genetics, and molecular diagnostics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	453
2	Engineering	2	2	49
3	Natural Sciences	2	2	69
4	Biostatistics	1	1	37
5	Electrical Engineering	1	1	12

Ruth Charlton

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel Jie Huang, Bryan Howie, Shane McCarthy, Nature Communications	2015	374
The UK10K project identifies rare variants in health and disease Klaudia Walter, Josine L. Min, Jie Huang, Kölner Universitäts PublikationsServer (Universität zu Köln)	2015	299
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, John Burn, Human Mutation Genetic TestingCancer PathologyGenomic DeletionsGeneticsPathology	2003	150
PMS2 Mutations in Childhood Cancer Michel De Vos, Bruce E. Hayward, Ruth Charlton, JNCI Journal of the National Cancer Institute Cancer SyndromeSomatic VariantGenetic DisorderMedicineGenetics	2006	93
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping Christopher M. Watson, Laura A. Crinnion, Ian Berry, BMC Medical Genetics	2016	91
Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study Lucinda Teoh, Ameenat Lola Solebo, Jugnoo S. Rahi, The Lancet Child & Adolescent Health OphthalmologyNational Observational StudyMedicinePediatricsSevere Visual Impairment	2021	67
Extensive gene conversion at the<i>PMS2</i>DNA mismatch repair locus Bruce E. Hayward, Michel De Vos, Elizabeth M. A. Valleley, Human Mutation Genome InstabilityMolecular EcologyCytogeneticsNatural SciencesGenetics	2007	57
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients Angel OK Chan, W M But, KL Ng, Steroids Adrenal GlandUrologyCongenital Adrenal HyperplasiaMedicineInherited Metabolic Disease	2011	39
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume Simon Haworth, Chin Yang Shapland, Caroline Hayward, Nature Communications	2019	39
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface Christopher M. Watson, Laura A. Crinnion, Joanne Morgan, Human Mutation Genetic TestingEngineeringGeneticsGenetic EpidemiologyPathology	2013	37

Page 1