Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

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Title: Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Authors: Mullegama SV; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA., Orellana C; Service of Genetics and Prenatal Diagnosis, University and Polytechnic Hospital La Fe, Valencia, Spain., van Bon BW; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Repnikova EA; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Brick L; Department of Pediatrics, Clinical Genetics Program, McMaster University Medical Center and McMaster Children's Hospital, Hamilton, Ontario, Canada., Li C; Department of Pediatrics, Clinical Genetics Program, McMaster University Medical Center and McMaster Children's Hospital, Hamilton, Ontario, Canada., Dupuis L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Rosello M; Service of Genetics and Prenatal Diagnosis, University and Polytechnic Hospital La Fe, Valencia, Spain., Aradhya S; GeneDx, Gaithersburg, MD, USA., Stavropoulos DJ; 1] Cytogenetics Laboratory, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada [2] Department of Laboratory Medicine and Pathology, University of Toronto, Toronto, Ontario, Canada., Manickam K; Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA., Mitchell E; 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA [2] Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA., Hodge JC; 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA [2] Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA., Talkowski ME; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA [2] Program in Medical and Population Genetics, Broad Institute of Harvard and M.I.T., Cambridge, MA, USA [3] Departments of Genetics and Neurology, Harvard Medical School, Cambridge, MA, USA., Gusella JF; 1] Program in Medical and Population Genetics, Broad Institute of Harvard and M.I.T., Cambridge, MA, USA [2] Departments of Genetics and Neurology, Harvard Medical School, Cambridge, MA, USA [3] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA., Keller K; Department of Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University, Portland, OR, USA., Zonana J; Department of Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University, Portland, OR, USA., Schwartz S; Laboratory Corporation of America, Research Triangle Park, Durham, NC, USA., Pyatt RE; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Waggoner DJ; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Shaffer LG; Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA, USA., Lin AE; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA [2] Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, USA., de Vries BB; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Mendoza-Londono R; Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Elsea SH; 1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jan; Vol. 22 (1), pp. 57-63. Date of Electronic Publication: 2013 May 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/ejhg.2013.67