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Ruth S. Charlton

The UK10K project identifies rare variants in health and disease
2015 · Writing group, Klaudia Walter, et al. · Nature · 1,038
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
2015 · Jie Huang, Bryan Howie, et al. · Nature Communications · 342
Genomic deletions inMSH2 orMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
2003 · C.F. Taylor, R.S. Charlton, et al. · Human Mutation · 153
PMS2 Mutations in Childhood Cancer
2006 · Michel De Vos, Bruce E. Hayward, et al. · JNCI Journal of the National Cancer Institute · 92
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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
2016 · Christopher M. Watson, Laura A. Crinnion, et al. · BMC Medical Genetics · 88
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Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study
2021 · Lucinda J Teoh, Ameenat Lola Solebo, et al. · The Lancet Child & Adolescent Health · 78
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
2017 · Audrey E. Hendricks, Elena G. Bochukova, et al. · Scientific Reports · 68
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Extensive gene conversion at thePMS2DNA mismatch repair locus
2007 · Bruce E. Hayward, Michel De Vos, et al. · Human Mutation · 54
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Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface
2013 · Christopher M. Watson, Laura A. Crinnion, et al. · Human Mutation · 39
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Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
2019 · Simon Haworth, Chin Yang Shapland, et al. · Nature Communications · 37
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Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients
2011 · Angel O.K. Chan, W.M. But, et al. · Steroids · 32
Varicella-zoster contracted in the second trimester of pregnancy
1992 · COLIN A. MICHIE, DOMINIQUE ACOLET, et al. · The Pediatric Infectious Disease Journal · 31
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
2010 · Ian M Carr, Nick Camm, et al. · Journal of Medical Genetics · 29
NovelDLX3variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome
2018 · Laura L. E. Whitehouse, Claire E. L. Smith, et al. · Oral Diseases · 26
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Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing
2014 · Christopher M. Watson, Mohammed El-Asrag, et al. · PLoS ONE · 23
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Investigations on a clinically and functionally unusual and novel germline p53 mutation
2002 · J Rutherford, C E Chu, et al. · British Journal of Cancer · 22
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Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria
2022 · Tala Andoni, Jennifer Wiggins, et al. · Scientific Reports · 20
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Nine novel L1 CAM mutations in families with X-linked hydrocephalus
1997 · John R. MacFarlane, Jian-Sheng Du, et al. · Human Mutation · 19
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Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation
2015 · Sally J. O'Shea, Angana Mitra, et al. · Journal of Cutaneous Pathology · 12
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Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3–p22.2
1995 · Sandra Herrell, Francisco J. Novo, et al. · Genomics · 12
Screening of potential novel candidate genes in schwannomatosis patients
2022 · Cristina Perez‐Becerril, Andrew J. Wallace, et al. · Human Mutation · 10
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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
2023 · Ummey Hany, Christopher M Watson, et al. · Journal of Medical Genetics · 9
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Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss
2011 · S. Y. Yoong, L. A. Mavrogiannis, et al. · Archives of Disease in Childhood · 9
The detection of microsatellite instability in blind endometrial samples-a potential novel screening tool for endometrial cancer in women from hereditary nonpolyposis colorectal cancer families?
2006 · M.J. HEWITT, N. WOOD, et al. · International Journal of Gynecological Cancer · 8
Innovative recruitment and clinical orientation programme to manage NHS junior doctor shortfall: A district hospital experience
2020 · Syed Rehan Quadery, Hamid Roodbari, et al. · Future Healthcare Journal · 6
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Works count: 41
Citation count: 2,288
H-index: 18
I10-index: 21
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