Richard Redon

Richard Redon

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Richard Redon

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files.

Bioinformatics 2018 04;34(7):1224-1225

Cardiovascular Genetics, L'Institut du Thorax, INSERM, CNRS, UNIV Nantes, Nantes 44007, France.

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http://dx.doi.org/10.1093/bioinformatics/btx734DOI Listing
April 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Value of the sodium-channel blocker challenge in Brugada syndrome.

Int J Cardiol 2017 Oct 4;245:178-180. Epub 2017 Aug 4.

CHU Nantes, L'institut du thorax, Service de Cardiologie, Nantes F-44000, France; INSERM, CNRS, UNIV Nantes, L'institut du thorax, Nantes F-44000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2017.05.099DOI Listing
October 2017

Clinical Yield of Familial Screening After Sudden Death in Young Subjects: The French Experience.

Circ Arrhythm Electrophysiol 2017 Sep;10(9)

From the l'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes (P.Q., F.K., A.T., B.G., R.R., J.B., J.-J.S., V.P., J.B.G.); Service de cardiologie, CHU de Rennes, (P.M.); Service de cardiologie, CHU de Brest (J.M.); Service de cardiologie, CHU de Tours (D.B.); and Service de cardiologie, Institut Lyric, CHU de Bordeaux, France (F.S.).

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http://dx.doi.org/10.1161/CIRCEP.117.005236DOI Listing
September 2017

Is there an inherited anatomical conformation favoring aneurysmal formation of the anterior communicating artery?

J Neurosurg 2017 May 17;126(5):1598-1605. Epub 2016 Jun 17.

Department of Diagnostic and Interventional Neuroradiology, Hospital Guillaume et René Laennec.

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https://thejns.org/view/journals/j-neurosurg/126/5/article-p
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http://dx.doi.org/10.3171/2016.4.JNS153032DOI Listing
May 2017

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

Atherosclerosis 2016 07 11;250:52-6. Epub 2016 Apr 11.

INSERM, UMR1087, l'institut du thorax, Nantes, F-44000, France; CNRS, UMR 6291, Nantes, F-44000, France; Université de Nantes, Nantes, F-44000, France; CHU Nantes, l'institut du Thorax, Nantes, F-44000, France; CIC Thorax, CHU Nantes, l'institut du Thorax, Nantes, F-44000, France. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2016.04.010DOI Listing
July 2016

ABCA7 rare variants and Alzheimer disease risk.

Neurology 2016 Jun 1;86(23):2134-7. Epub 2016 Apr 1.

From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.

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http://dx.doi.org/10.1212/WNL.0000000000002627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898320PMC
June 2016

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

Front Cardiovasc Med 2016 25;3. Epub 2016 Apr 25.

Service de Cardiologie, Centre Hospitalier Universitaire (CHU) de Nantes, l'institut du thorax, Nantes, France; Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, l'institut du thorax, Nantes, France; Centre National de la Recherche Scientifique (CNRS) UMR 6291, l'institut du thorax, Nantes, France; l'institut du thorax, Université de Nantes, Nantes, France.

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http://dx.doi.org/10.3389/fcvm.2016.00009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4842929PMC
May 2016

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.

Int J Cardiol 2016 Mar 11;207:349-58. Epub 2016 Jan 11.

Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, l'institut du thorax, Nantes, France; Centre National de la Recherche Scientifique (CNRS) UMR 6291, l'institut du thorax, Nantes, France; Université de Nantes, l'institut du thorax, Nantes, France; Centre Hospitalier Universitaire (CHU) de Nantes, l'institut du thorax, Service de Cardiologie, Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.01.052DOI Listing
March 2016

Fine-scale human genetic structure in Western France.

Eur J Hum Genet 2015 Jun 3;23(6):831-6. Epub 2014 Sep 3.

1] INSERM UMR 1087, Nantes, France [2] CNRS, UMR 6291 institut du thorax, Nantes, France [3] Université de Nantes, Nantes, France [4] CHU Nantes, l'institut du thorax, Service de Cardiologie, Nantes, France.

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http://dx.doi.org/10.1038/ejhg.2014.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795055PMC
June 2015

Genetic investigations on intracranial aneurysm: update and perspectives.

J Neuroradiol 2015 Apr 9;42(2):67-71. Epub 2015 Feb 9.

Department of neuroradiology, CHU Nantes, boulevard J.-Monod, 44000 Nantes, France; 1087 Inserm unit, institut du thorax, 44000 Nantes, France.

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http://dx.doi.org/10.1016/j.neurad.2015.01.002DOI Listing
April 2015

mod_bio: Apache modules for Next-Generation sequencing data.

Bioinformatics 2015 Jan 4;31(1):112-3. Epub 2014 Sep 4.

Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France.

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http://dx.doi.org/10.1093/bioinformatics/btu547DOI Listing
January 2015

PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.

Circulation 2014 Jul 3;130(2):147-60. Epub 2014 Jun 3.

From the Department of Clinical Research, University of Bern, Bern, Switzerland (D.S., L.G., J.O., M.A., J.-S.R., M.C.E., N.S., H.A.); Department of Anatomy, Embryology and Physiology (A.O.V.) and Department of Clinical and Experimental Cardiology (R.W., J.B., R.F.M., C.R.B., C.A.R.), Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; ICIN-Netherlands Heart Institute, Utrecht, The Netherlands (J.B.); Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands (A.M.v.M.); Institute of Pathology, University of Lausanne, Lausanne, Switzerland (S.R.); Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche 1087, L'Institut du Thorax, Nantes, France (R.R.); Centre National de la Recherche Scientifique Unité Mixte de Recherche 6291, Nantes, France (R.R.); Université de Nantes, Nantes, France (R.R.); and Centre Hospitalier Universitaire Nantes, L'Institut du Thorax, Service de Cardiologie, Nantes, France (R.R.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.113.007852DOI Listing
July 2014

NGS library preparation may generate artifactual integration sites of AAV vectors.

Nat Med 2014 Jun;20(6):577-8

1] INSERM, UMR 1089, Nantes, France. [2] University of Nantes, Nantes, France. [3] Nantes University Hospital, Nantes, France.

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http://dx.doi.org/10.1038/nm.3578DOI Listing
June 2014

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Am J Hum Genet 2013 Dec 21;93(6):1100-7. Epub 2013 Nov 21.

Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France; Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853004PMC
December 2013

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Nat Genet 2013 Sep 21;45(9):1044-9. Epub 2013 Jul 21.

Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869788PMC
September 2013

Large scale variation in DNA copy number in chicken breeds.

BMC Genomics 2013 Jun 13;14:398. Epub 2013 Jun 13.

Animal Breeding and Genomics Centre, Wageningen University, P.O. Box 338, Wageningen 6700 AH, The Netherlands.

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http://dx.doi.org/10.1186/1471-2164-14-398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751642PMC
June 2013

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

Bioinformatics 2011 Nov 7;27(22):3200-1. Epub 2011 Oct 7.

Institut du thorax, Inserm UMR 915, Centre Hospitalier Universitaire de Nantes, 44000 Nantes, France.

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http://dx.doi.org/10.1093/bioinformatics/btr554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208396PMC
November 2011

Pitfalls in the use of DGV for CNV interpretation.

Am J Med Genet A 2011 Oct 9;155A(10):2593-6. Epub 2011 Sep 9.

Inserm U, Faculty of Medicine, Rouen University, France.

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http://dx.doi.org/10.1002/ajmg.a.34195DOI Listing
October 2011

aCGH.Spline--an R package for aCGH dye bias normalization.

Bioinformatics 2011 May 25;27(9):1195-200. Epub 2011 Feb 25.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1093/bioinformatics/btr107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077069PMC
May 2011

Confirmed rare copy number variants implicate novel genes in schizophrenia.

Biochem Soc Trans 2010 Apr;38(2):445-51

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

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http://dx.doi.org/10.1042/BST0380445DOI Listing
April 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

The role of DNA copy number variation in schizophrenia.

Biol Psychiatry 2009 Dec 12;66(11):1005-12. Epub 2009 Sep 12.

The Wellcome Trust Sanger Institute, Hinxton, United Kingdom.

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http://linkinghub.elsevier.com/retrieve/pii/S000632230900900
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http://dx.doi.org/10.1016/j.biopsych.2009.07.027DOI Listing
December 2009

Copy number variation goes clinical.

Genome Biol 2009 23;10(1):301. Epub 2009 Jan 23.

CHU de Nantes, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1186/gb-2009-10-1-301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687785PMC
September 2009

A robust statistical method for case-control association testing with copy number variation.

Nat Genet 2008 Oct 7;40(10):1245-52. Epub 2008 Sep 7.

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

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http://dx.doi.org/10.1038/ng.206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784596PMC
October 2008

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

Genome Biol 2007 ;8(10):R228

Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK.

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http://dx.doi.org/10.1186/gb-2007-8-10-r228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246302PMC
May 2008

Diet and the evolution of human amylase gene copy number variation.

Nat Genet 2007 Oct 9;39(10):1256-60. Epub 2007 Sep 9.

School of Human Evolution and Social Change, Arizona State University, Tempe, Arizona 85287, USA.

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http://dx.doi.org/10.1038/ng2123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2377015PMC
October 2007

Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.

Nat Protoc 2007 ;2(3):577-87

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

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http://www.nature.com/articles/nprot.2007.53
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http://dx.doi.org/10.1038/nprot.2007.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2688820PMC
June 2007

Genome assembly comparison identifies structural variants in the human genome.

Nat Genet 2006 Dec 22;38(12):1413-8. Epub 2006 Nov 22.

Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada.

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http://www.nature.com/articles/ng1921
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http://dx.doi.org/10.1038/ng1921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674632PMC
December 2006

Overlapping 3q28 amplifications in the COMA cell line and undifferentiated primary sarcoma.

Cancer Genet Cytogenet 2006 Sep;169(2):102-13

Molecular Pathology Department, Institute of Genetics, Cellular and Molecular Biology, CNRS/INSERM/Collège de France, 1 rue Laurent Fries, BP10142, 67404 Illkirch Cedex, C.U. de Strasbourg, France.

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http://linkinghub.elsevier.com/retrieve/pii/S016546080600195
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http://dx.doi.org/10.1016/j.cancergencyto.2006.03.009DOI Listing
September 2006

Copy number variation: new insights in genome diversity.

Genome Res 2006 Aug 29;16(8):949-61. Epub 2006 Jun 29.

Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/gr.3677206DOI Listing
August 2006

Amplicon mapping and transcriptional analysis pinpoint cyclin L as a candidate oncogene in head and neck cancer.

Cancer Res 2002 Nov;62(21):6211-7

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/Université Louis Pasteur, F-67404 Illkirch cedex, France.

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November 2002