Ruth Charlton

Ruth Charlton

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Ruth Charlton

Ruth Charlton

Publications by authors named "Ruth Charlton"

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

Mol Diagn Ther 2017 12;21(6):685-692

Yorkshire Regional Genetics Service, St. James's University Hospital, 6.2 Clinical Sciences Building, Leeds, LS9 7TF, United Kingdom.

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http://dx.doi.org/10.1007/s40291-017-0304-xDOI Listing
December 2017

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

J Mol Diagn 2017 11 1;19(6):933-940. Epub 2017 Sep 1.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, United Kingdom; MRC Medical Bioinformatics Centre, Leeds Institute for Data Analytics, St. James's University Hospital, Leeds, United Kingdom; MRC Single Cell Functional Genomics Centre, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173031
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http://dx.doi.org/10.1016/j.jmoldx.2017.08.002DOI Listing
November 2017

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

J Cutan Pathol 2016 Mar 12;43(3):287-9. Epub 2015 Oct 12.

Leeds Institute of Cancer and Pathology, Section of Epidemiology and Biostatistics, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1111/cup.12625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819440PMC
March 2016

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

Genet Test Mol Biomarkers 2012 May 30;16(5):453-5. Epub 2012 Jan 30.

Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, United Kingdom.

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http://dx.doi.org/10.1089/gtmb.2011.0254DOI Listing
May 2012

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

J Med Genet 2011 Feb 30;48(2):123-30. Epub 2010 Oct 30.

Division of Molecular & Translational Medicine, Leeds Institute for Molecular Medicine, University of Leeds, St James's University Hospital, Leeds, UK.

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http://www.tara.tcd.ie/bitstream/handle/2262/53909/PEER_stag
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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.082081
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http://dx.doi.org/10.1136/jmg.2010.082081DOI Listing
February 2011

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Hum Mutat 2007 May;28(5):424-30

Leeds Institute of Molecular Medicine, University of Leeds and Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.20457DOI Listing
May 2007

PMS2 mutations in childhood cancer.

J Natl Cancer Inst 2006 Mar;98(5):358-61

University of Leeds, Yorkshire Regional Genetics Service, United Kingdom.

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http://dx.doi.org/10.1093/jnci/djj073DOI Listing
March 2006