Christian Marshall

Christian Marshall

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Christian Marshall

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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Authors:
Hunna J Watson Zeynep Yilmaz Laura M Thornton Christopher Hübel Jonathan R I Coleman Héléna A Gaspar Julien Bryois Anke Hinney Virpi M Leppä Manuel Mattheisen Sarah E Medland Stephan Ripke Shuyang Yao Paola Giusti-Rodríguez Ken B Hanscombe Kirstin L Purves Roger A H Adan Lars Alfredsson Tetsuya Ando Ole A Andreassen Jessica H Baker Wade H Berrettini Ilka Boehm Claudette Boni Vesna Boraska Perica Katharina Buehren Roland Burghardt Matteo Cassina Sven Cichon Maurizio Clementi Roger D Cone Philippe Courtet Scott Crow James J Crowley Unna N Danner Oliver S P Davis Martina de Zwaan George Dedoussis Daniela Degortes Janiece E DeSocio Danielle M Dick Dimitris Dikeos Christian Dina Monika Dmitrzak-Weglarz Elisa Docampo Laramie E Duncan Karin Egberts Stefan Ehrlich Geòrgia Escaramís Tõnu Esko Xavier Estivill Anne Farmer Angela Favaro Fernando Fernández-Aranda Manfred M Fichter Krista Fischer Manuel Föcker Lenka Foretova Andreas J Forstner Monica Forzan Christopher S Franklin Steven Gallinger Ina Giegling Johanna Giuranna Fragiskos Gonidakis Philip Gorwood Monica Gratacos Mayora Sébastien Guillaume Yiran Guo Hakon Hakonarson Konstantinos Hatzikotoulas Joanna Hauser Johannes Hebebrand Sietske G Helder Stefan Herms Beate Herpertz-Dahlmann Wolfgang Herzog Laura M Huckins James I Hudson Hartmut Imgart Hidetoshi Inoko Vladimir Janout Susana Jiménez-Murcia Antonio Julià Gursharan Kalsi Deborah Kaminská Jaakko Kaprio Leila Karhunen Andreas Karwautz Martien J H Kas James L Kennedy Anna Keski-Rahkonen Kirsty Kiezebrink Youl-Ri Kim Lars Klareskog Kelly L Klump Gun Peggy S Knudsen Maria C La Via Stephanie Le Hellard Robert D Levitan Dong Li Lisa Lilenfeld Bochao Danae Lin Jolanta Lissowska Jurjen Luykx Pierre J Magistretti Mario Maj Katrin Mannik Sara Marsal Christian R Marshall Morten Mattingsdal Sara McDevitt Peter McGuffin Andres Metspalu Ingrid Meulenbelt Nadia Micali Karen Mitchell Alessio Maria Monteleone Palmiero Monteleone Melissa A Munn-Chernoff Benedetta Nacmias Marie Navratilova Ioanna Ntalla Julie K O'Toole Roel A Ophoff Leonid Padyukov Aarno Palotie Jacques Pantel Hana Papezova Dalila Pinto Raquel Rabionet Anu Raevuori Nicolas Ramoz Ted Reichborn-Kjennerud Valdo Ricca Samuli Ripatti Franziska Ritschel Marion Roberts Alessandro Rotondo Dan Rujescu Filip Rybakowski Paolo Santonastaso André Scherag Stephen W Scherer Ulrike Schmidt Nicholas J Schork Alexandra Schosser Jochen Seitz Lenka Slachtova P Eline Slagboom Margarita C T Slof-Op 't Landt Agnieszka Slopien Sandro Sorbi Beata Świątkowska Jin P Szatkiewicz Ioanna Tachmazidou Elena Tenconi Alfonso Tortorella Federica Tozzi Janet Treasure Artemis Tsitsika Marta Tyszkiewicz-Nwafor Konstantinos Tziouvas Annemarie A van Elburg Eric F van Furth Gudrun Wagner Esther Walton Elisabeth Widen Eleftheria Zeggini Stephanie Zerwas Stephan Zipfel Andrew W Bergen Joseph M Boden Harry Brandt Steven Crawford Katherine A Halmi L John Horwood Craig Johnson Allan S Kaplan Walter H Kaye James E Mitchell Catherine M Olsen John F Pearson Nancy L Pedersen Michael Strober Thomas Werge David C Whiteman D Blake Woodside Garret D Stuber Scott Gordon Jakob Grove Anjali K Henders Anders Juréus Katherine M Kirk Janne T Larsen Richard Parker Liselotte Petersen Jennifer Jordan Martin Kennedy Grant W Montgomery Tracey D Wade Andreas Birgegård Paul Lichtenstein Claes Norring Mikael Landén Nicholas G Martin Preben Bo Mortensen Patrick F Sullivan Gerome Breen Cynthia M Bulik

Nat Genet 2019 Aug 15;51(8):1207-1214. Epub 2019 Jul 15.

Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/s41588-019-0439-2DOI Listing
August 2019

Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?

Orphanet J Rare Dis 2019 Jun 27;14(1):156. Epub 2019 Jun 27.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1186/s13023-019-1138-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598251PMC
June 2019

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.

Genet Med 2018 04 17;20(5):486-494. Epub 2017 Aug 17.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2017.129DOI Listing
April 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

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

Germline and somatic mutations in with diverse neurodevelopmental phenotypes.

Neurol Genet 2017 Dec 18;3(6):e199. Epub 2017 Dec 18.

Mohammed Bin Rashid University of Medicine and Health Sciences (M.U.), Dubai, UAE; The Centre for Applied Genomics (M.U., M.W.), Program in Genetics and Genome Biology (GGB) (A.C., L.B., S.L., G.P., R.K.C.Y., M.F., A.S., B.A.M., S.W.S.), Genome Diagnostics (D.J.S., C.R.M.), Paediatric Laboratory Medicine, Division of Neurosurgery (J.D., B.A.M.), and Division of Neurology (C.D.H.), The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Neuroscience (M.W.), Newcastle University, UK; Department of Molecular Genetics (A.C., S.W.S.), Department of Paediatrics (C.D.H., C.H.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Discipline of Genetics (L.A.T.), Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada; and Division of Neurology (C.B.), BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735305PMC
December 2017

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.

Genet Med 2017 11 4;19(11):1268-1275. Epub 2017 May 4.

Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2017.47DOI Listing
November 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Am J Med Genet A 2017 Nov 12;173(11):3070-3074. Epub 2017 Sep 12.

Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, Faculty of Sciences, University of Quebec at Montreal, Montreal, Quebec.

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http://dx.doi.org/10.1002/ajmg.a.38354DOI Listing
November 2017

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Am J Med Genet A 2017 Oct 25;173(10):2725-2730. Epub 2017 Aug 25.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38352DOI Listing
October 2017

Severe phenotype of X-linked dominant chondrodysplasia punctata.

Clin Case Rep 2017 09 20;5(9):1435-1437. Epub 2017 Jul 20.

Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto Ontario M5G 1X8 Canada.

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http://dx.doi.org/10.1002/ccr3.1008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582310PMC
September 2017

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Neuromuscul Disord 2017 Jun 8;27(6):574-580. Epub 2017 Feb 8.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.001DOI Listing
June 2017

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

Eur J Hum Genet 2017 06 5;25(6):775-778. Epub 2017 Apr 5.

Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2017.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477367PMC
June 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446782PMC
June 2017

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

NPJ Genom Med 2017 26;2:19. Epub 2017 May 26.

Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada M5G 1X8.

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http://dx.doi.org/10.1038/s41525-017-0021-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677914PMC
May 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

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

Invest Ophthalmol Vis Sci 2017 03;58(3):1736-1742

Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.

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http://dx.doi.org/10.1167/iovs.16-20864DOI Listing
March 2017

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.

Prenat Diagn 2017 Jan 14;37(1):61-69. Epub 2016 Nov 14.

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

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http://doi.wiley.com/10.1002/pd.4935
Publisher Site
http://dx.doi.org/10.1002/pd.4935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243851PMC
January 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

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

Hum Mutat 2016 09 27;37(9):926-32. Epub 2016 Jun 27.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1×8, Canada.

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http://dx.doi.org/10.1002/humu.23018DOI Listing
September 2016

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Am J Med Genet A 2016 09 17;170(9):2421-5. Epub 2016 Jun 17.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37802DOI Listing
September 2016

Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts.

Hum Mutat 2016 07 28;37(7):669-78. Epub 2016 Apr 28.

Defence Medical and Environmental Research Institute, DSO National Laboratories, Singapore.

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http://dx.doi.org/10.1002/humu.22996DOI Listing
July 2016

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

J Pediatr 2016 Apr 26;171:313-6.e1-2. Epub 2016 Jan 26.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2015.12.060DOI Listing
April 2016

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.

Int J Cardiol 2016 Feb 22;204:115-21. Epub 2015 Nov 22.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; The Toronto Congenital Cardiac Centre for Adults & Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada; The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2015.11.127DOI Listing
February 2016

RNAseq analysis for the diagnosis of muscular dystrophy.

Ann Clin Transl Neurol 2016 01 8;3(1):55-60. Epub 2015 Dec 8.

Division of Neurology Hospital for Sick Children Toronto Ontario Canada M5G A04; Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.

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http://dx.doi.org/10.1002/acn3.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704476PMC
January 2016

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Mol Genet Genomics 2015 Dec 24;290(6):2163-71. Epub 2015 May 24.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1007/s00438-015-1067-xDOI Listing
December 2015

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

J Child Neurol 2015 Nov 20;30(13):1749-56. Epub 2015 Apr 20.

Pediatric Neurology Unit, Edmond and Lily Children's Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073815579708DOI Listing
November 2015

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

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

Gene 2015 Jul 8;565(2):187-91. Epub 2015 Apr 8.

Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.011DOI Listing
July 2015

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

G3 (Bethesda) 2015 Jul 2;5(8):1775-81. Epub 2015 Jul 2.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada Department of Pediatrics, University of Toronto, Toronto, ON, Canada

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http://dx.doi.org/10.1534/g3.115.019851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528333PMC
July 2015

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Cell Mol Gastroenterol Hepatol 2015 Jul;1(4):381-394.e7

SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada ; Institute of Medical Science, University of Toronto, Toronto, ON, Canada ; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.jcmgh.2015.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507283PMC
July 2015

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Genet Med 2015 Feb 31;17(2):149-57. Epub 2014 Jul 31.

1] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [2] Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada [3] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada [4] Department of Psychiatry, University of Toronto and University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464824PMC
February 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 variable microRNAs in schizophrenia and their neurodevelopmental gene targets.

Biol Psychiatry 2015 Jan 29;77(2):158-66. Epub 2014 May 29.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Ontario, Canada; Department of Psychiatry, University of Toronto, Ontario, Canada; Department of Psychiatry, University Health Network, Toronto, Ontario, Canada; Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2014.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464826PMC
January 2015

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

J Med Genet 2014 Dec 7;51(12):797-805. Epub 2014 Oct 7.

Department of Ophthalmology, The Hospital for Sick Children, Toronto, Ontario, Canada Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102620DOI Listing
December 2014

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Ann Neurol 2014 Nov 4;76(5):758-64. Epub 2014 Oct 4.

Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Anatomical Pathology and Cytopathology, Calgary Laboratory Services, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ana.24274DOI Listing
November 2014

Synaptic, transcriptional and chromatin genes disrupted in autism.

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Mol Genet Genomic Med 2014 Nov 15;2(6):539-47. Epub 2014 Sep 15.

The Centre for Applied Genomics, The Hospital for Sick Children Toronto, Ontario, Canada ; Division of Molecular Genetics, The Hospital for Sick Children Toronto, Ontario, Canada ; Department of Molecular Genetics, The University of Toronto Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mgg3.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303224PMC
November 2014

The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia.

Hum Genet 2014 Sep 11;133(9):1169-85. Epub 2014 Jun 11.

Max Planck Independent Research Group on Population Genomics, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology (PICB), Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.

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http://dx.doi.org/10.1007/s00439-014-1459-8DOI Listing
September 2014

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

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

Nat Genet 2014 Jul 25;46(7):742-7. Epub 2014 May 25.

1] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. [3] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ng.2980DOI Listing
July 2014

Adult neuropsychiatric expression and familial segregation of 2q13 duplications.

Am J Med Genet B Neuropsychiatr Genet 2014 Jun 8;165B(4):337-44. Epub 2014 May 8.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.32236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464821PMC
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

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Neurogenetics 2014 May 19;15(2):117-27. Epub 2014 Mar 19.

Neurogenetics Section, R-30, The Campbell Family Brain Research Institute, The Centre for Addiction & Mental Health (CAMH), 250 College Street, Toronto, ON, M5T 1R8, Canada.

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http://dx.doi.org/10.1007/s10048-014-0394-0DOI Listing
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

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.

Fertil Steril 2014 Apr 23;101(4):1079-1085.e3. Epub 2014 Jan 23.

Program in Genetics and Genome Biology, Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2013.12.027DOI Listing
April 2014

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.

Am J Med Genet A 2014 Mar 20;164A(3):796-800. Epub 2013 Dec 20.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36356DOI Listing
March 2014

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Neurology 2014 Mar 19;82(11):963-8. Epub 2014 Feb 19.

From Metabolics and Newborn Screening (M.A.L.), University of Ottawa, Children's Hospital of Eastern Ontario; Clinical and Metabolic Genetics (R.J.), and The Centre for Applied Genomics and Program in Genetics and Genome Biology (C.R.M., S.W.S.), The Hospital for Sick Children, Toronto; Neuromuscular and Neuorometabolic Disorders (L.B., M.A.T.), and Department of Ophthalmology (A.R.R.), McMaster University, Hamilton; Department of Molecular Genetics, McLaughlin Centre (C.R.M., S.W.S.), and Division of Neurology, Sunnybrook Health Sciences Centre (L.L.), University of Toronto; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease (A.E.L., T.A.M.), Toronto Western Hospital, Canada; and Laboratory Genetic Metabolic Diseases (R.J.A.W., S.F.), Academic Medical Center, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963001PMC
March 2014

Adult expression of a 3q13.31 microdeletion.

Mol Cytogenet 2014 Mar 20;7(1):23. Epub 2014 Mar 20.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1186/1755-8166-7-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022390PMC
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

J Med Genet 2014 Feb 16;51(2):122-31. Epub 2013 Dec 16.

Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://www.molepi.nl/uploads/publicaties/2014/2014_oei_jmedg
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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2013-102064
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http://dx.doi.org/10.1136/jmedgenet-2013-102064DOI Listing
February 2014