Ruth S. Charlton

St. James's University Hospital
Leeds, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Journal: Journal of medical genetics

Published: July 13, 2023

Screening of potential novel candidate genes in schwannomatosis patients.

Screening of potential novel candidate genes in schwannomatosis patients.

Journal: Human mutation

Published: September 30, 2021

Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.

Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.

Journal: Scientific reports

Published: August 21, 2021

Innovative recruitment and clinical orientation programme to manage NHS junior doctor shortfall: A district hospital experience.

Innovative recruitment and clinical orientation programme to manage NHS junior doctor shortfall: A district hospital experience.

Journal: Future healthcare journal

Published: June 19, 2020

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.

Journal: Oral diseases

Published: April 16, 2018

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Journal: Molecular diagnosis & therapy

Published: October 08, 2017

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Journal: The Journal of molecular diagnostics : JMD

Published: June 13, 2017

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

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

Journal: BMC medical genetics

Published: September 16, 2015

Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation.

Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation.

Journal: Journal of cutaneous pathology

Published: August 05, 2015

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Journal: PloS one

Published: February 10, 2014

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Journal: Human mutation

Published: July 19, 2013

The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.

The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.

Journal: Genetic testing and molecular biomarkers

Published: February 01, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026