Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
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| Title: | Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. |
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| Authors: | Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Zech M; 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., Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Faivre L; 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., Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bayat A; 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., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Davis EE; 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., Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA., Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany., Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA., Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA., Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA., Saunders C; 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., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA., Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA., Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de. |
| Corporate Authors: | Undiagnosed Diseases Network |
| Source: | Nature communications [Nat Commun] 2024 Sep 10; Vol. 15 (1), pp. 7909. Date of Electronic Publication: 2024 Sep 10. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39256359 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Willim+J%22">Willim J</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Woike+D%22">Woike D</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Greene+D%22">Greene D</searchLink>; Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Das+S%22">Das S</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Pfeifer+K%22">Pfeifer K</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Yuan+W%22">Yuan W</searchLink>; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Lindsey+A%22">Lindsey A</searchLink>; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Itani+O%22">Itani O</searchLink>; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Böhme+AL%22">Böhme AL</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Tibbe+D%22">Tibbe D</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hönck+HH%22">Hönck HH</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hassani+Nia+F%22">Hassani Nia F</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sorlin+A%22">Sorlin A</searchLink>; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Smol+T%22">Smol T</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Colson+C%22">Colson C</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Baranano+K%22">Baranano K</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Schatz+K%22">Schatz K</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schoch+K%22">Schoch K</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Spillmann+R%22">Spillmann R</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Davis+EE%22">Davis EE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; Indiana University School of Medicine, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Vetrini+F%22">Vetrini F</searchLink>; Indiana University School of Medicine, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Gburek-Augustat+J%22">Gburek-Augustat J</searchLink>; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Grace+AN%22">Grace AN</searchLink>; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Mitchell+B%22">Mitchell B</searchLink>; Baylor College of Medicine in San Antonio, San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Stegmann+A%22">Stegmann A</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sinnema+M%22">Sinnema M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Meeks+N%22">Meeks N</searchLink>; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Saunders+C%22">Saunders C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cadieux-Dion+M%22">Cadieux-Dion M</searchLink>; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Hoyer+J%22">Hoyer J</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Van-Gils+J%22">Van-Gils J</searchLink>; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22de+Sainte-Agathe+JM%22">de Sainte-Agathe JM</searchLink>; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Thompson+ML%22">Thompson ML</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.<br /><searchLink fieldCode="AU" term="%22Bebin+EM%22">Bebin EM</searchLink>; University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Weisz-Hubshman+M%22">Weisz-Hubshman M</searchLink>; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA.<br /><searchLink fieldCode="AU" term="%22Tabet+AC%22">Tabet AC</searchLink>; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Latypova+X%22">Latypova X</searchLink>; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Harder+S%22">Harder S</searchLink>; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Silverman+GA%22">Silverman GA</searchLink>; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Pak+SC%22">Pak SC</searchLink>; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Schedl+T%22">Schedl T</searchLink>; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Freson+K%22">Freson K</searchLink>; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Mumford+A%22">Mumford A</searchLink>; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Turro+E%22">Turro E</searchLink>; Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Schlein+C%22">Schlein C</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Kreienkamp+HJ%22">Kreienkamp HJ</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 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Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101528555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2041-1723 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220411723%22">20411723 </searchLink><i>NLM ISO Abbreviation: </i>Nat Commun <i>Subsets: </i>MEDLINE |
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