A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Flore Zufferey; Elliott H Sherr; Noam D Beckmann; Ellen Hanson; Anne M Maillard; Loyse Hippolyte; Aurélien Macé; Carina Ferrari; Zoltán Kutalik; Joris Andrieux; Elizabeth Aylward; Mandy Barker; Raphael Bernier; Sonia Bouquillon; Philippe Conus; Bruno Delobel; W Andrew Faucett; Robin P Goin-Kochel; Ellen Grant; Louise Harewood; Jill V Hunter; Sébastien Lebon; David H Ledbetter; Christa Lese Martin; Katrin Männik; Danielle Martinet; Pratik Mukherjee; Melissa B Ramocki; Sarah J Spence; Kyle J Steinman; Jennifer Tjernagel; John E Spiro; Alexandre Reymond; Jacques S Beckmann; Wendy K Chung; Sébastien Jacquemont; on behalf of the Simons VIP Consortium; on behalf of the 16p11.2 European Consortium

doi:10.1136/jmedgenet-2012-101203

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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

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Flore Zufferey Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Elliott H Sherr Department of Neurology, University of California, San Francisco, California, USA PubMed articles Google scholar articles
Noam D Beckmann Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Ellen Hanson Department of Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Anne M Maillard Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Loyse Hippolyte Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Aurélien Macé Department of Medical Genetics, University of Lausanne, Lausanne, SwitzerlandSwiss Institute of Bioinformatics, University of Lausanne, Lausanne, Switzerland PubMed articles Google scholar articles
Carina Ferrari Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Zoltán Kutalik Department of Medical Genetics, University of Lausanne, Lausanne, SwitzerlandSwiss Institute of Bioinformatics, University of Lausanne, Lausanne, Switzerland PubMed articles Google scholar articles
Joris Andrieux Institut de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France PubMed articles Google scholar articles
Elizabeth Aylward Center for Integrative Brain Research, Children's Research Institute, Seattle, Washington, USA PubMed articles Google scholar articles
Mandy Barker Department of Child Psychiatry, SUPEA, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Raphael Bernier Department of Psychiatry and Behavioral Science, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Sonia Bouquillon Institut de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France PubMed articles Google scholar articles
Philippe Conus Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Bruno Delobel GHICL, Centre de Génétique Chromosomique, Hôpital Saint-Vincent de Paul, Lille, France PubMed articles Google scholar articles
W Andrew Faucett Genomic Medicine Institute, Geisinger Clinic, Danville, Pennsylvania, USA PubMed articles Google scholar articles
Robin P Goin-Kochel Department of Pediatrics, Psychology Section, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Ellen Grant Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Louise Harewood Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland PubMed articles Google scholar articles
Jill V Hunter Department of Radiology, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Sébastien Lebon Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
David H Ledbetter Genomic Medicine Institute, Geisinger Clinic, Danville, Pennsylvania, USA PubMed articles Google scholar articles
Christa Lese Martin Department of Human Genetics, Emory University, Atlanta, Georgia, USA PubMed articles Google scholar articles
Katrin Männik Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland PubMed articles Google scholar articles
Danielle Martinet Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Pratik Mukherjee Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California, USA PubMed articles Google scholar articles
Melissa B Ramocki Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Sarah J Spence Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
Kyle J Steinman Department of Neurology, Seattle Children's Research Institute & University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Jennifer Tjernagel Simons Foundation, New York, New York, USA PubMed articles Google scholar articles
John E Spiro Simons Foundation, New York, New York, USA PubMed articles Google scholar articles
Alexandre Reymond Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland PubMed articles Google scholar articles
Jacques S Beckmann Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, SwitzerlandDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland PubMed articles Google scholar articles
Wendy K Chung Departments of Pediatrics and Medicine, Columbia University, New York, New York, USA PubMed articles Google scholar articles
Sébastien Jacquemont Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articles Google scholar articles
Members of the consortia are listed in the Supplemental Appendix. Google scholar articles
Members of the consortia are listed in the Supplemental Appendix. Google scholar articles

Correspondence to
Dr Wendy Chung, Division of Molecular Genetics, Department of Pediatrics, Columbia University, Russ Berrie Pavilion, 1150 St Nicholas Avenue, Rm 620, New York, NY 10032, USA, wkc15{at}columbia.edu; Jacques S Beckmann, Service de Génétique Médicale, CHUV, Ave Pierrre Decker, 2, 1011 Lausanne, Switzerland, jacques.beckmann{at}unil.ch; Alexandre Reymond, Center for Integrative Genomics, University of Lausanne, Le Génopode, 1015 Lausanne, Switzerland, alexandre.reymond{at}unil.ch; Sébastien Jacquemont, Service de Génétique Médicale, CHUV, Ave Pierrre Decker, 2, 1011 Lausanne, Switzerland, sebastien.jacquemont{at}chuv.ch

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Zufferey F, Sherr EH, Beckmann ND, et al

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Journal of Medical Genetics 2012;49:660-668.

Publication history

Received July 31, 2012
Revised August 22, 2012
Accepted August 24, 2012
First published October 10, 2012.

Online issue publication

October 10, 2012

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