Elise Ruark

Elise Ruark

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Elise Ruark

Elise Ruark

Publications by authors named "Elise Ruark"

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31Publications

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Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.

JNCI Cancer Spectr 2019 Jun 19;3(2):pkz028. Epub 2019 Apr 19.

Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.

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http://dx.doi.org/10.1093/jncics/pkz028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649772PMC
June 2019

CoverView: a sequence quality evaluation tool for next generation sequencing data.

Wellcome Open Res 2018 4;3:36. Epub 2018 Apr 4.

Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.14306.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964631PMC
April 2018

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Am J Hum Genet 2017 May;100(5):725-736

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420355PMC
May 2017

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

Sci Rep 2016 08 3;6:31029. Epub 2016 Aug 3.

The Institute of Cancer Research, London, Division of Genetics &Epidemiology, Sutton SM2 5NG, UK.

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http://dx.doi.org/10.1038/srep31029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971567PMC
August 2016

The ICR1000 UK exome series: a resource of gene variation in an outbred population.

F1000Res 2015 22;4:883. Epub 2015 Sep 22.

Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, SM2 5PT, UK.

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http://dx.doi.org/10.12688/f1000research.7049.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706061PMC
February 2016

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

Nat Commun 2014 Aug 7;5:4398. Epub 2014 Aug 7.

1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2] Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London SM2 5PT, UK.

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http://dx.doi.org/10.1038/ncomms5398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143912PMC
August 2014

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

Breast Cancer Res Treat 2012 Jul 18;134(1):429-33. Epub 2012 Apr 18.

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.

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http://link.springer.com/10.1007/s10549-012-2057-x
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http://dx.doi.org/10.1007/s10549-012-2057-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781770PMC
July 2012