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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
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  Data: Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
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  Data: <searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink>; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA.<br /><searchLink fieldCode="AU" term="%22Orellana+C%22">Orellana C</searchLink>; Service of Genetics and Prenatal Diagnosis, University and Polytechnic Hospital La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22van+Bon+BW%22">van Bon BW</searchLink>; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Halbach+S%22">Halbach S</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Repnikova+EA%22">Repnikova EA</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Brick+L%22">Brick L</searchLink>; Department of Pediatrics, Clinical Genetics Program, McMaster University Medical Center and McMaster Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; Department of Pediatrics, Clinical Genetics Program, McMaster University Medical Center and McMaster Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Dupuis+L%22">Dupuis L</searchLink>; Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Rosello+M%22">Rosello M</searchLink>; Service of Genetics and Prenatal Diagnosis, University and Polytechnic Hospital La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Aradhya+S%22">Aradhya S</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Stavropoulos+DJ%22">Stavropoulos DJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Manickam+K%22">Manickam K</searchLink>; Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Mitchell+E%22">Mitchell E</searchLink>; 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA [2] Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Hodge+JC%22">Hodge JC</searchLink>; 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA [2] Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gusella+JF%22">Gusella JF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Keller+K%22">Keller K</searchLink>; Department of Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Zonana+J%22">Zonana J</searchLink>; Department of Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Schwartz+S%22">Schwartz S</searchLink>; Laboratory Corporation of America, Research Triangle Park, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Pyatt+RE%22">Pyatt RE</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Waggoner+DJ%22">Waggoner DJ</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Shaffer+LG%22">Shaffer LG</searchLink>; Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA, USA.<br /><searchLink fieldCode="AU" term="%22Lin+AE%22">Lin AE</searchLink>; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA [2] Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22de+Vries+BB%22">de Vries BB</searchLink>; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mendoza-Londono+R%22">Mendoza-Londono R</searchLink>; Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Elsea+SH%22">Elsea SH</searchLink>; 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.
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