Bhooma Thiruvahindrapuram

Bhooma Thiruvahindrapuram

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Bhooma Thiruvahindrapuram

Bhooma Thiruvahindrapuram

Publications by authors named "Bhooma Thiruvahindrapuram"

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Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population.

Data Brief 2019 Aug 2;25:104203. Epub 2019 Jul 2.

Department of Biochemistry and Medical Genetics, The George and Fay Yee Centre for Healthcare Innovation, University of Manitoba, Winnipeg, MB, Canada.

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http://dx.doi.org/10.1016/j.dib.2019.104203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626884PMC
August 2019

Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.

PLoS One 2019 11;14(6):e0217846. Epub 2019 Jun 11.

Department of Biochemistry and Medical Genetics and The George and Fay Yee Centre for Healthcare Innovation, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0217846PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559655PMC
June 2019

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.

Mol Genet Genomic Med 2019 02 28;7(2):e00521. Epub 2018 Nov 28.

Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mgg3.521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393654PMC
February 2019

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Stem Cell Reports 2018 11 1;11(5):1211-1225. Epub 2018 Nov 1.

Genetics & Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 3H7, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183042
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http://dx.doi.org/10.1016/j.stemcr.2018.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235011PMC
November 2018

Chorea-acanthocytosis: Homozygous 1-kb deletion in detected by whole-genome sequencing.

Neurol Genet 2018 Jun 18;4(3):e242. Epub 2018 May 18.

Centre for Applied Genomics (S.W., B.T., S.W.S.), The Hospital for Sick Children; Program in Genetics and Genome Biology (S.W., R.D., B.T., S.W.S., B.A.M.), The Hospital for Sick Children, Toronto, Ontario, Canada; Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad; Department of Biochemistry (I.M.U.), University of Health Sciences, Lahore; Division of Neurology (A.A.), Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan; Department of Molecular Genetics (S.W.S.), University of Toronto; McLaughlin Centre (S.W.S.), University of Toronto, Canada; and Department of Pediatrics (B.A.M.), University of Texas Southwestern, Dallas.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961193PMC
June 2018

Copy number variation in fetal alcohol spectrum disorder.

Biochem Cell Biol 2018 04 13;96(2):161-166. Epub 2018 Mar 13.

a The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 04A, Canada.

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http://dx.doi.org/10.1139/bcb-2017-0241DOI Listing
April 2018

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

Twin Res Hum Genet 2018 02 8;21(1):1-11. Epub 2018 Jan 8.

Center of Neurodevelopmental Disorders (KIND),Department of Women's and Children's Health,Karolinska Institutet,Solna,Sweden.

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http://dx.doi.org/10.1017/thg.2017.69DOI Listing
February 2018

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

CMAJ 2018 02;190(5):E126-E136

The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael's Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph's Health Centre, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.171151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982PMC
February 2018

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Am J Hum Genet 2018 01;102(1):142-155

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777982PMC
January 2018

A homozygous mutation in the stem II domain of causes typical Roifman syndrome.

NPJ Genom Med 2017 10;2:23. Epub 2017 Jul 10.

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON Canada.

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http://dx.doi.org/10.1038/s41525-017-0024-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677950PMC
July 2017

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

Nat Neurosci 2017 Apr 6;20(4):602-611. Epub 2017 Mar 6.

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1038/nn.4524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501701PMC
April 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Authors:
Christian R Marshall Daniel P Howrigan Daniele Merico Bhooma Thiruvahindrapuram Wenting Wu Douglas S Greer Danny Antaki Aniket Shetty Peter A Holmans Dalila Pinto Madhusudan Gujral William M Brandler Dheeraj Malhotra Zhouzhi Wang Karin V Fuentes Fajarado Michelle S Maile Stephan Ripke Ingrid Agartz Margot Albus Madeline Alexander Farooq Amin Joshua Atkins Silviu A Bacanu Richard A Belliveau Sarah E Bergen Marcelo Bertalan Elizabeth Bevilacqua Tim B Bigdeli Donald W Black Richard Bruggeman Nancy G Buccola Randy L Buckner Brendan Bulik-Sullivan William Byerley Wiepke Cahn Guiqing Cai Murray J Cairns Dominique Campion Rita M Cantor Vaughan J Carr Noa Carrera Stanley V Catts Kimberley D Chambert Wei Cheng C Robert Cloninger David Cohen Paul Cormican Nick Craddock Benedicto Crespo-Facorro James J Crowley David Curtis Michael Davidson Kenneth L Davis Franziska Degenhardt Jurgen Del Favero Lynn E DeLisi Dimitris Dikeos Timothy Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Peter Eichhammer Johan Eriksson Valentina Escott-Price Laurent Essioux Ayman H Fanous Kai-How Farh Martilias S Farrell Josef Frank Lude Franke Robert Freedman Nelson B Freimer Joseph I Friedman Andreas J Forstner Menachem Fromer Giulio Genovese Lyudmila Georgieva Elliot S Gershon Ina Giegling Paola Giusti-Rodríguez Stephanie Godard Jacqueline I Goldstein Jacob Gratten Lieuwe de Haan Marian L Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M Hartmann Frans A Henskens Stefan Herms Joel N Hirschhorn Per Hoffmann Andrea Hofman Hailiang Huang Masashi Ikeda Inge Joa Anna K Kähler René S Kahn Luba Kalaydjieva Juha Karjalainen David Kavanagh Matthew C Keller Brian J Kelly James L Kennedy Yunjung Kim James A Knowles Bettina Konte Claudine Laurent Phil Lee S Hong Lee Sophie E Legge Bernard Lerer Deborah L Levy Kung-Yee Liang Jeffrey Lieberman Jouko Lönnqvist Carmel M Loughland Patrik K E Magnusson Brion S Maher Wolfgang Maier Jacques Mallet Manuel Mattheisen Morten Mattingsdal Robert W McCarley Colm McDonald Andrew M McIntosh Sandra Meier Carin J Meijer Ingrid Melle Raquelle I Mesholam-Gately Andres Metspalu Patricia T Michie Lili Milani Vihra Milanova Younes Mokrab Derek W Morris Bertram Müller-Myhsok Kieran C Murphy Robin M Murray Inez Myin-Germeys Igor Nenadic Deborah A Nertney Gerald Nestadt Kristin K Nicodemus Laura Nisenbaum Annelie Nordin Eadbhard O'Callaghan Colm O'Dushlaine Sang-Yun Oh Ann Olincy Line Olsen F Anthony O'Neill Jim Van Os Christos Pantelis George N Papadimitriou Elena Parkhomenko Michele T Pato Tiina Paunio Diana O Perkins Tune H Pers Olli Pietiläinen Jonathan Pimm Andrew J Pocklington John Powell Alkes Price Ann E Pulver Shaun M Purcell Digby Quested Henrik B Rasmussen Abraham Reichenberg Mark A Reimers Alexander L Richards Joshua L Roffman Panos Roussos Douglas M Ruderfer Veikko Salomaa Alan R Sanders Adam Savitz Ulrich Schall Thomas G Schulze Sibylle G Schwab Edward M Scolnick Rodney J Scott Larry J Seidman Jianxin Shi Jeremy M Silverman Jordan W Smoller Erik Söderman Chris C A Spencer Eli A Stahl Eric Strengman Jana Strohmaier T Scott Stroup Jaana Suvisaari Dragan M Svrakic Jin P Szatkiewicz Srinivas Thirumalai Paul A Tooney Juha Veijola Peter M Visscher John Waddington Dermot Walsh Bradley T Webb Mark Weiser Dieter B Wildenauer Nigel M Williams Stephanie Williams Stephanie H Witt Aaron R Wolen Brandon K Wormley Naomi R Wray Jing Qin Wu Clement C Zai Rolf Adolfsson Ole A Andreassen Douglas H R Blackwood Elvira Bramon Joseph D Buxbaum Sven Cichon David A Collier Aiden Corvin Mark J Daly Ariel Darvasi Enrico Domenici Tõnu Esko Pablo V Gejman Michael Gill Hugh Gurling Christina M Hultman Nakao Iwata Assen V Jablensky Erik G Jönsson Kenneth S Kendler George Kirov Jo Knight Douglas F Levinson Qingqin S Li Steven A McCarroll Andrew McQuillin Jennifer L Moran Bryan J Mowry Markus M Nöthen Roel A Ophoff Michael J Owen Aarno Palotie Carlos N Pato Tracey L Petryshen Danielle Posthuma Marcella Rietschel Brien P Riley Dan Rujescu Pamela Sklar David St Clair James T R Walters Thomas Werge Patrick F Sullivan Michael C O'Donovan Stephen W Scherer Benjamin M Neale Jonathan Sebat

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1038/ng.3725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737772PMC
January 2017

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Am J Med Genet B Neuropsychiatr Genet 2016 04 14;171B(3):377-82. Epub 2016 Jan 14.

Inserm U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, France.

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http://dx.doi.org/10.1002/ajmg.b.32416DOI Listing
April 2016

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda) 2015 Sep 16;5(11):2453-61. Epub 2015 Sep 16.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada Department of Psychiatry University of Toronto, Ontario, M5T 1R8 Canada, University of Toronto, Toronto, Ontario, Canada Department of Psychiatry, and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, M5S 2S1 Canada The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, M5G 2C4 Canada

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http://dx.doi.org/10.1534/g3.115.021345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632064PMC
September 2015

Whole-genome sequencing of quartet families with autism spectrum disorder.

Nat Med 2015 Feb 26;21(2):185-91. Epub 2015 Jan 26.

1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/nm.3792DOI Listing
February 2015

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

Authors:
Lauren M McGrath Dongmei Yu Christian Marshall Lea K Davis Bhooma Thiruvahindrapuram Bingbin Li Carolina Cappi Gloria Gerber Aaron Wolf Frederick A Schroeder Lisa Osiecki Colm O'Dushlaine Andrew Kirby Cornelia Illmann Stephen Haddad Patience Gallagher Jesen A Fagerness Cathy L Barr Laura Bellodi Fortu Benarroch O Joseph Bienvenu Donald W Black Michael H Bloch Ruth D Bruun Cathy L Budman Beatriz Camarena Danielle C Cath Maria C Cavallini Sylvain Chouinard Vladimir Coric Bernadette Cullen Richard Delorme Damiaan Denys Eske M Derks Yves Dion Maria C Rosário Valsama Eapen Patrick Evans Peter Falkai Thomas V Fernandez Helena Garrido Daniel Geller Hans J Grabe Marco A Grados Benjamin D Greenberg Varda Gross-Tsur Edna Grünblatt Gary A Heiman Sian M J Hemmings Luis D Herrera Ana G Hounie Joseph Jankovic James L Kennedy Robert A King Roger Kurlan Nuria Lanzagorta Marion Leboyer James F Leckman Leonhard Lennertz Christine Lochner Thomas L Lowe Gholson J Lyon Fabio Macciardi Wolfgang Maier James T McCracken William McMahon Dennis L Murphy Allan L Naarden Benjamin M Neale Erika Nurmi Andrew J Pakstis Michele T Pato Carlos N Pato John Piacentini Christopher Pittenger Yehuda Pollak Victor I Reus Margaret A Richter Mark Riddle Mary M Robertson David Rosenberg Guy A Rouleau Stephan Ruhrmann Aline S Sampaio Jack Samuels Paul Sandor Brooke Sheppard Harvey S Singer Jan H Smit Dan J Stein Jay A Tischfield Homero Vallada Jeremy Veenstra-VanderWeele Susanne Walitza Ying Wang Jens R Wendland Yin Yao Shugart Euripedes C Miguel Humberto Nicolini Ben A Oostra Rainald Moessner Michael Wagner Andres Ruiz-Linares Peter Heutink Gerald Nestadt Nelson Freimer Tracey Petryshen Danielle Posthuma Michael A Jenike Nancy J Cox Gregory L Hanna Helena Brentani Stephen W Scherer Paul D Arnold S Evelyn Stewart Carol A Mathews James A Knowles Edwin H Cook David L Pauls Kai Wang Jeremiah M Scharf

J Am Acad Child Adolesc Psychiatry 2014 Aug 24;53(8):910-9. Epub 2014 Jun 24.

Massachusetts General Hospital, Boston; Brigham and Womens Hospital, Boston; Harvard-MIT Broad Institute, Boston. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2014.04.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4218748PMC
August 2014

Copy number variation in Han Chinese individuals with autism spectrum disorder.

J Neurodev Disord 2014 23;6(1):34. Epub 2014 Aug 23.

The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, 686 Bay Street, Peter Gilgan Centre for Research and Learning, Room 139800, Toronto, Ontario M5G 0A4, Canada.

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http://dx.doi.org/10.1186/1866-1955-6-34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147384PMC
August 2014

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes.

Am J Med Genet B Neuropsychiatr Genet 2014 Jun 3;165B(4):303-13. Epub 2014 Apr 3.

Molecular Neuropsychiatry & Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction & Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.32232DOI Listing
June 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai Christelle Cabrol Nadia Bolshakova Elena Bacchelli Richard Anney Steven Gallinger Michelle Cotterchio Graham Casey Lonnie Zwaigenbaum Kerstin Wittemeyer Kirsty Wing Simon Wallace Herman van Engeland Ana Tryfon Susanne Thomson Latha Soorya Bernadette Rogé Wendy Roberts Fritz Poustka Susana Mouga Nancy Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein Sean Ennis Hilary Coon Agatino Battaglia Peter Szatmari James S Sutcliffe Joachim Hallmayer Michael Gill Edwin H Cook Joseph D Buxbaum Bernie Devlin Louise Gallagher Catalina Betancur Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00150-5.pdf
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https://hal.archives-ouvertes.fr/inserm-00986225/file/mmc1.p
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400150
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http://dx.doi.org/10.1016/j.ajhg.2014.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067558PMC
May 2014