Nicola Whiffin

Nicola Whiffin

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Nicola Whiffin

Nicola Whiffin

Publications by authors named "Nicola Whiffin"

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31Publications

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Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.

JAMA 2019 Aug 30. Epub 2019 Aug 30.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1001/jama.2019.12891DOI Listing
August 2019

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Am J Hum Genet 2019 01;104(1):187-190

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323549PMC
January 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.

Bioinformatics 2018 01;34(1):97-103

Cardiovascular Magnetic Resonance Imaging and Genetics, MRC London Institute of Medical Sciences, Imperial College London, Hammersmith Hospital Campus, London, UK.

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http://dx.doi.org/10.1093/bioinformatics/btx552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870605PMC
January 2018

Using high-resolution variant frequencies to empower clinical genome interpretation.

Genet Med 2017 10 18;19(10):1151-1158. Epub 2017 May 18.

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2017.26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563454PMC
October 2017

Phenotype and Clinical Outcomes of Titin Cardiomyopathy.

J Am Coll Cardiol 2017 Oct;70(18):2264-2274

National Heart Lung Institute, Imperial College London, London, United Kingdom; Cardiovascular Research Centre, Royal Brompton Hospital, London, United Kingdom; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, United Kingdom; National Heart Centre, Singapore; Duke-NUS Medical School, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2017.08.063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666113PMC
October 2017

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Authors:
Timothy H T Cheng Deborah Thompson Jodie Painter Tracy O'Mara Maggie Gorman Lynn Martin Claire Palles Angela Jones Daniel D Buchanan Aung Ko Win John Hopper Mark Jenkins Noralane M Lindor Polly A Newcomb Steve Gallinger David Conti Fred Schumacher Graham Casey Graham G Giles Paul Pharoah Julian Peto Angela Cox Anthony Swerdlow Fergus Couch Julie M Cunningham Ellen L Goode Stacey J Winham Diether Lambrechts Peter Fasching Barbara Burwinkel Hermann Brenner Hiltrud Brauch Jenny Chang-Claude Helga B Salvesen Vessela Kristensen Hatef Darabi Jingmei Li Tao Liu Annika Lindblom Per Hall Magdalena Echeverry de Polanco Monica Sans Angel Carracedo Sergi Castellvi-Bel Augusto Rojas-Martinez Samuel Aguiar Jnr Manuel R Teixeira Alison M Dunning Joe Dennis Geoffrey Otton Tony Proietto Elizabeth Holliday John Attia Katie Ashton Rodney J Scott Mark McEvoy Sean C Dowdy Brooke L Fridley Henrica M J Werner Jone Trovik Tormund S Njolstad Emma Tham Miriam Mints Ingo Runnebaum Peter Hillemanns Thilo Dörk Frederic Amant Stefanie Schrauwen Alexander Hein Matthias W Beckmann Arif Ekici Kamila Czene Alfons Meindl Manjeet K Bolla Kyriaki Michailidou Jonathan P Tyrer Qin Wang Shahana Ahmed Catherine S Healey Mitul Shah Daniela Annibali Jeroen Depreeuw Nada A Al-Tassan Rebecca Harris Brian F Meyer Nicola Whiffin Fay J Hosking Ben Kinnersley Susan M Farrington Maria Timofeeva Albert Tenesa Harry Campbell Robert W Haile Shirley Hodgson Luis Carvajal-Carmona Jeremy P Cheadle Douglas Easton Malcolm Dunlop Richard Houlston Amanda Spurdle Ian Tomlinson

Sci Rep 2015 12 1;5:17369. Epub 2015 Dec 1.

Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

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http://dx.doi.org/10.1038/srep17369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664893PMC
December 2015

Putative cis-regulatory drivers in colorectal cancer.

Nature 2014 Aug 23;512(7512):87-90. Epub 2014 Jul 23.

1] Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland [2] Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, 1211 Geneva, Switzerland [3] Swiss Institute of Bioinformatics, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.1038/nature13602DOI Listing
August 2014

Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery.

Genes (Basel) 2014 Mar 27;5(2):270-84. Epub 2014 Mar 27.

Molecular and Population Genetics Team, Genetics and Epidemiology, The Institute of Cancer Research, Sutton, SM2 5NG, UK.

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http://www.mdpi.com/2073-4425/5/2/270
Publisher Site
http://dx.doi.org/10.3390/genes5020270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4094933PMC
March 2014

Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.

Carcinogenesis 2012 Jan 31;33(1):108-12. Epub 2011 Oct 31.

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

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http://dx.doi.org/10.1093/carcin/bgr243DOI Listing
January 2012

MLH1-93G > A is a risk factor for MSI colorectal cancer.

Carcinogenesis 2011 Aug 11;32(8):1157-61. Epub 2011 May 11.

Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.

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http://dx.doi.org/10.1093/carcin/bgr089DOI Listing
August 2011