首页> Nature communications> Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

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第一作者： Jana,Willim

第一单位： Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

作者： Jana,Willim ^[1] ; Daniel,Woike ^[1] ; Daniel,Greene ^[2] ; Sarada,Das ^[1] ; Kevin,Pfeifer ^[1] ; Weimin,Yuan ^[3] ; Anika,Lindsey ^[3] ; Omar,Itani ^[3] ; Amber L,Böhme ^[1] ; Debora,Tibbe ^[1] ; Hans-Hinrich,Hönck ^[1] ; Fatemeh,Hassani Nia ^[1] ; Undiagnosed Diseases Network ^[4] ; Michael,Zech ^[5] ; Theresa,Brunet ^[6] ; Laurence,Faivre ^[7] ; Arthur,Sorlin ^[7] ; Antonio,Vitobello ^[8] ; Thomas,Smol ^[8] ; Cindy,Colson ^[9] ; Kristin,Baranano ^[10] ; Krista,Schatz ^[11] ; Allan,Bayat ^[12] ; Kelly,Schoch ^[12] ; Rebecca,Spillmann ^[13] ; Erica E,Davis ^[14] ; Erin,Conboy ^[14] ; Francesco,Vetrini ^[15] ; Konrad,Platzer ^[15] ; Sonja,Neuser ^[16] ; Janina,Gburek-Augustat ^[17] ; Alexandra Noel,Grace ^[18] ; Bailey,Mitchell ^[19] ; Alexander,Stegmann ^[19] ; Margje,Sinnema ^[20] ; Naomi,Meeks ^[21] ; Carol,Saunders ^[22] ; Maxime,Cadieux-Dion ^[23] ; Juliane,Hoyer ^[24] ; Julien,Van-Gils ^[24] ; Jean-Madeleine,de Sainte-Agathe ^[25] ; Michelle L,Thompson ^[26] ; E Martina,Bebin ^[27] ; Monika,Weisz-Hubshman ^[28] ; Anne-Claude,Tabet ^[28] ; Alain,Verloes ^[28] ; Jonathan,Levy ^[28] ; Xenia,Latypova ^[29] ; Sönke,Harder ^[3] ; Gary A,Silverman ^[3] ; Stephen C,Pak ^[30] ; Tim,Schedl ^[31] ; Kathleen,Freson ^[32] ; Andrew,Mumford ^[2] ; Ernest,Turro ^[1] ; Christian,Schlein ^[12] ; Vandana,Shashi ^[33] ; Hans-Jürgen,Kreienkamp

作者单位： Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[1] Icahn School of Medicine at Mount Sinai, New York, NY, USA. ^[2] Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA. ^[3] Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.;Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.;Institute for Advanced Study, Technical University of Munich, Garching, Germany. ^[4] Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.;Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany. ^[5] Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.;INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France. ^[6] INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.;Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France. ^[7] Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France. ^[8] Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ^[9] Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ^[10] Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.;Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.;Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark. ^[11] Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. ^[12] Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.;Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.;Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. ^[13] Indiana University School of Medicine, Indianapolis, IN, USA. ^[14] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. ^[15] Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany. ^[16] Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA. ^[17] Baylor College of Medicine in San Antonio, San Antonio, TX, USA. ^[18] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. ^[19] Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA. ^[20] Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.;School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.;Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA. ^[21] Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA. ^[22] Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. ^[23] Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France. ^[24] HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA. ^[25] University of Alabama at Birmingham, Birmingham, AL, USA. ^[26] Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.;Texas Children's Hospital, Houston, Tx, USA. ^[27] Department of Genetics, APHP-Robert Debré University Hospital, Paris, France. ^[28] Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[29] Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA. ^[30] Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium. ^[31] School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK. ^[32] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de. ^[33]