Matthew E Hurles

Matthew E Hurles

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Matthew E Hurles

Matthew E Hurles

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Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring.

Commun Biol 2019 20;2:228. Epub 2019 Jun 20.

2Environmental Health Science and Research Bureau, Healthy Environments and Consumer Safety Branch, Health Canada, Ottawa, Ontario K1A 0K9 Canada.

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http://dx.doi.org/10.1038/s42003-019-0476-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586636PMC
June 2019

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Returning genome sequences to research participants: Policy and practice.

Wellcome Open Res 2017 Feb 24;2:15. Epub 2017 Feb 24.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.10942.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351846PMC
February 2017

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.

Prenat Diagn 2016 Oct 18;36(10):935-941. Epub 2016 Sep 18.

Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1002/pd.4916DOI Listing
October 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Principle of proportionality in genomic data sharing.

Nat Rev Genet 2016 01 23;17(1):1-2. Epub 2015 Nov 23.

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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http://dx.doi.org/10.1038/nrg.2015.5DOI Listing
January 2016

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

Hum Mutat 2015 Oct 20;36(10):941-9. Epub 2015 Aug 20.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom.

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http://dx.doi.org/10.1002/humu.22842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832335PMC
October 2015

Potential research participants support the return of raw sequence data.

J Med Genet 2015 Aug 20;52(8):571-4. Epub 2015 May 20.

Nuffield Department of Population Health, The Ethox Centre, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518751PMC
August 2015

No expectation to share incidental findings in genomic research.

Lancet 2015 Apr 17;385(9975):1289-90. Epub 2014 Dec 17.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1016/S0140-6736(14)62119-XDOI Listing
April 2015

Absence of heterozygosity due to template switching during replicative rearrangements.

Am J Hum Genet 2015 Apr 19;96(4):555-64. Epub 2015 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385179PMC
April 2015

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology 2015 Apr 1;84(17):1745-50. Epub 2015 Apr 1.

From Monogenic Molecular Genetics (M.Y.A., B.A.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter; Centre for Human Genetics (M.Y.A., B.A.C., E.L.B., M.A.P., A.H.C.), St. George's, University of London, UK; National Genetic Center (A.R.), Ministry of Health, Muscat, Sultanate of Oman; Division of Genetics and Genomics, Department of Medicine (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), Manton Center for Orphan Disease Research (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), and Howard Hughes Medical Institute (J.N.P., R.S.H., G.D.E., S.S., C.A.W.), Boston Children's Hospital; Departments of Pediatrics (K.S.-A., K.M., C.A.W., G.H.M.) and Neurology (C.A.W.), and Program in Biological and Biomedical Sciences (G.D.E.), Harvard Medical School, Boston; Program in Medical and Population Genetics (K.S.-A., K.M., C.A.W.), Broad Institute of MIT and Harvard University, Cambridge, MA; Department of Biology (A.A.-K.), College of Science, Sultan Qaboos University, Sultanate of Oman; Wellcome Trust Sanger Institute (S.A.-T., M.E.H.), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Department of Neurology (A.Y.A.-M.), Atkinson Morley Wing, St. George's Hospital, London, UK; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston, MA.

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http://www.neurology.org/content/84/17/1745.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
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http://dx.doi.org/10.1212/WNL.0000000000001523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424132PMC
April 2015

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.

Hum Mol Genet 2015 Mar 25;24(6):1774-90. Epub 2014 Nov 25.

JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK,

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http://hmg.oxfordjournals.org/content/early/2014/11/25/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu581
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http://dx.doi.org/10.1093/hmg/ddu581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381751PMC
March 2015

The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline.

Nat Commun 2015 Mar 26;6:6684. Epub 2015 Mar 26.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1038/ncomms7684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389250PMC
March 2015

Using population data for assessing next-generation sequencing performance.

Bioinformatics 2015 Jan 17;31(1):56-61. Epub 2014 Sep 17.

Oxford Gene Technology, Begbroke Science Park, Oxford, Oxfordshire, OX5 1PF, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway NE1 3BZ, Newcastle upon Tyne and The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btu606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271148PMC
January 2015

High throughput exome coverage of clinically relevant cardiac genes.

BMC Med Genomics 2014 Dec 11;7:67. Epub 2014 Dec 11.

Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1186/s12920-014-0067-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272796PMC
December 2014

Exome Sequencing in Fetuses with Structural Malformations.

J Clin Med 2014 Jul 8;3(3):747-62. Epub 2014 Jul 8.

Centre of Women's and Children's Health & School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.3390/jcm3030747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449643PMC
July 2014

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Hum Mol Genet 2014 Jun 29;23(12):3269-77. Epub 2014 Jan 29.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

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http://dx.doi.org/10.1093/hmg/ddu038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030780PMC
June 2014

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Am J Hum Genet 2014 Feb 23;94(2):295-302. Epub 2014 Jan 23.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928658PMC
February 2014

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Nucleic Acids Res 2014 Jan 22;42(Database issue):D993-D1000. Epub 2013 Oct 22.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK and Cambridge University Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkt937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078PMC
January 2014

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

JAMA Neurol 2013 Dec;70(12):1556-61

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England13Department of Molecular Neuroscience, University College London Institute o.

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http://dx.doi.org/10.1001/jamaneurol.2013.3242DOI Listing
December 2013

DeNovoGear: de novo indel and point mutation discovery and phasing.

Nat Methods 2013 Oct 25;10(10):985-7. Epub 2013 Aug 25.

1] Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA. [2].

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http://www.nature.com/articles/nmeth.2611
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http://dx.doi.org/10.1038/nmeth.2611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003501PMC
October 2013

Cerebral organoids model human brain development and microcephaly.

Nature 2013 Sep 28;501(7467):373-9. Epub 2013 Aug 28.

Institute of Molecular Biotechnology of the Austrian Academy of Science, Vienna 1030, Austria.

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http://dx.doi.org/10.1038/nature12517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3817409PMC
September 2013

Empirical research on the ethics of genomic research.

Am J Med Genet A 2013 Aug 27;161A(8):2099-101. Epub 2013 Jun 27.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.36067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884757PMC
August 2013

Quantifying single nucleotide variant detection sensitivity in exome sequencing.

BMC Bioinformatics 2013 Jun 18;14:195. Epub 2013 Jun 18.

MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK.

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http://dx.doi.org/10.1186/1471-2105-14-195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695811PMC
June 2013

Origins of the domestic horse.

Proc Natl Acad Sci U S A 2012 Nov 12;109(46):E3148; author reply E3149. Epub 2012 Oct 12.

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http://dx.doi.org/10.1073/pnas.1210326109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503160PMC
November 2012

Characterising and predicting haploinsufficiency in the human genome.

PLoS Genet 2010 Oct 14;6(10):e1001154. Epub 2010 Oct 14.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

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https://dx.plos.org/10.1371/journal.pgen.1001154
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http://dx.doi.org/10.1371/journal.pgen.1001154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954820PMC
October 2010

Towards a comprehensive structural variation map of an individual human genome.

Genome Biol 2010 19;11(5):R52. Epub 2010 May 19.

Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1186/gb-2010-11-5-r52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898065PMC
September 2010

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome.

Genome Res 2010 May 22;20(5):623-35. Epub 2010 Mar 22.

Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA.

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http://dx.doi.org/10.1101/gr.102970.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860164PMC
May 2010

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Authors:
Nick Craddock Matthew E Hurles Niall Cardin Richard D Pearson Vincent Plagnol Samuel Robson Damjan Vukcevic Chris Barnes Donald F Conrad Eleni Giannoulatou Chris Holmes Jonathan L Marchini Kathy Stirrups Martin D Tobin Louise V Wain Chris Yau Jan Aerts Tariq Ahmad T Daniel Andrews Hazel Arbury Anthony Attwood Adam Auton Stephen G Ball Anthony J Balmforth Jeffrey C Barrett Inês Barroso Anne Barton Amanda J Bennett Sanjeev Bhaskar Katarzyna Blaszczyk John Bowes Oliver J Brand Peter S Braund Francesca Bredin Gerome Breen Morris J Brown Ian N Bruce Jaswinder Bull Oliver S Burren John Burton Jake Byrnes Sian Caesar Chris M Clee Alison J Coffey John M C Connell Jason D Cooper Anna F Dominiczak Kate Downes Hazel E Drummond Darshna Dudakia Andrew Dunham Bernadette Ebbs Diana Eccles Sarah Edkins Cathryn Edwards Anna Elliot Paul Emery David M Evans Gareth Evans Steve Eyre Anne Farmer I Nicol Ferrier Lars Feuk Tomas Fitzgerald Edward Flynn Alistair Forbes Liz Forty Jayne A Franklyn Rachel M Freathy Polly Gibbs Paul Gilbert Omer Gokumen Katherine Gordon-Smith Emma Gray Elaine Green Chris J Groves Detelina Grozeva Rhian Gwilliam Anita Hall Naomi Hammond Matt Hardy Pile Harrison Neelam Hassanali Husam Hebaishi Sarah Hines Anne Hinks Graham A Hitman Lynne Hocking Eleanor Howard Philip Howard Joanna M M Howson Debbie Hughes Sarah Hunt John D Isaacs Mahim Jain Derek P Jewell Toby Johnson Jennifer D Jolley Ian R Jones Lisa A Jones George Kirov Cordelia F Langford Hana Lango-Allen G Mark Lathrop James Lee Kate L Lee Charlie Lees Kevin Lewis Cecilia M Lindgren Meeta Maisuria-Armer Julian Maller John Mansfield Paul Martin Dunecan C O Massey Wendy L McArdle Peter McGuffin Kirsten E McLay Alex Mentzer Michael L Mimmack Ann E Morgan Andrew P Morris Craig Mowat Simon Myers William Newman Elaine R Nimmo Michael C O'Donovan Abiodun Onipinla Ifejinelo Onyiah Nigel R Ovington Michael J Owen Kimmo Palin Kirstie Parnell David Pernet John R B Perry Anne Phillips Dalila Pinto Natalie J Prescott Inga Prokopenko Michael A Quail Suzanne Rafelt Nigel W Rayner Richard Redon David M Reid Renwick Susan M Ring Neil Robertson Ellie Russell David St Clair Jennifer G Sambrook Jeremy D Sanderson Helen Schuilenburg Carol E Scott Richard Scott Sheila Seal Sue Shaw-Hawkins Beverley M Shields Matthew J Simmonds Debbie J Smyth Elilan Somaskantharajah Katarina Spanova Sophia Steer Jonathan Stephens Helen E Stevens Millicent A Stone Zhan Su Deborah P M Symmons John R Thompson Wendy Thomson Mary E Travers Clare Turnbull Armand Valsesia Mark Walker Neil M Walker Chris Wallace Margaret Warren-Perry Nicholas A Watkins John Webster Michael N Weedon Anthony G Wilson Matthew Woodburn B Paul Wordsworth Allan H Young Eleftheria Zeggini Nigel P Carter Timothy M Frayling Charles Lee Gil McVean Patricia B Munroe Aarno Palotie Stephen J Sawcer Stephen W Scherer David P Strachan Chris Tyler-Smith Matthew A Brown Paul R Burton Mark J Caulfield Alastair Compston Martin Farrall Stephen C L Gough Alistair S Hall Andrew T Hattersley Adrian V S Hill Christopher G Mathew Marcus Pembrey Jack Satsangi Michael R Stratton Jane Worthington Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem Ouwehand Miles Parkes Nazneen Rahman John A Todd Nilesh J Samani Peter Donnelly

Nature 2010 Apr;464(7289):713-20

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http://dx.doi.org/10.1038/nature08979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892339PMC
April 2010

High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping.

Nat Protoc 2009 ;4(12):1771-83

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/nprot.2009.184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2871309PMC
March 2010

Large, rare chromosomal deletions associated with severe early-onset obesity.

Nature 2010 Feb 6;463(7281):666-70. Epub 2009 Dec 6.

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

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http://www.nature.com/articles/nature08689
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http://dx.doi.org/10.1038/nature08689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108883PMC
February 2010

Copy number variation in human health, disease, and evolution.

Annu Rev Genomics Hum Genet 2009 ;10:451-81

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1146/annurev.genom.9.081307.164217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4472309PMC
October 2009