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De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

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Title: De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Authors: Ahmad N; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Fazeli W; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany., Schließke S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Lesca G; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France., Gokce-Samar Z; Department of Epileptology, Lyon University Hospital, Lyon, France., Mekbib KY; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri., Burton J; University of Illinois College of Medicine, Peoria, Illinois., Hoganson G; University of Illinois College of Medicine, Peoria, Illinois., Petersen A; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Gracie S; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Bartels E; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kundishora A; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Till M; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France., Milleret-Pignot C; Department of Epileptology, Lyon University Hospital, Lyon, France., Dangerfield S; University of Utah, Salt Lake City, Utah., Viskochil D; University of Utah, Salt Lake City, Utah., Anderson KJ; University of Utah, Salt Lake City, Utah; Department of Pediatrics, University of Vermont Medical Center, Burlington, Vermont., Palculict TB; GeneDx, Gaithersburg, Maryland., Schnur RE; GeneDx, Gaithersburg, Maryland., Wentzensen IM; GeneDx, Gaithersburg, Maryland., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, California., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Kunz WS; Department of Epileptology, University Hospital Bonn, Bonn, Germany., Burkart S; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Simons M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: sonja.neuser@medizin.uni-leipzig.de.
Source: Pediatric neurology [Pediatr Neurol] 2023 Nov; Vol. 148, pp. 164-171. Date of Electronic Publication: 2023 Aug 24.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
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  Data: De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
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  Data: <searchLink fieldCode="AU" term="%22Ahmad+N%22">Ahmad N</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Fazeli+W%22">Fazeli W</searchLink>; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Schließke+S%22">Schließke S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Gokce-Samar+Z%22">Gokce-Samar Z</searchLink>; Department of Epileptology, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mekbib+KY%22">Mekbib KY</searchLink>; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Jin+SC%22">Jin SC</searchLink>; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri.<br /><searchLink fieldCode="AU" term="%22Burton+J%22">Burton J</searchLink>; University of Illinois College of Medicine, Peoria, Illinois.<br /><searchLink fieldCode="AU" term="%22Hoganson+G%22">Hoganson G</searchLink>; University of Illinois College of Medicine, Peoria, Illinois.<br /><searchLink fieldCode="AU" term="%22Petersen+A%22">Petersen A</searchLink>; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon.<br /><searchLink fieldCode="AU" term="%22Gracie+S%22">Gracie S</searchLink>; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon.<br /><searchLink fieldCode="AU" term="%22Granger+L%22">Granger L</searchLink>; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon.<br /><searchLink fieldCode="AU" term="%22Bartels+E%22">Bartels E</searchLink>; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Oppermann+H%22">Oppermann H</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Kundishora+A%22">Kundishora A</searchLink>; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut.<br /><searchLink fieldCode="AU" term="%22Till+M%22">Till M</searchLink>; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Milleret-Pignot+C%22">Milleret-Pignot C</searchLink>; Department of Epileptology, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Dangerfield+S%22">Dangerfield S</searchLink>; University of Utah, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Viskochil+D%22">Viskochil D</searchLink>; University of Utah, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Anderson+KJ%22">Anderson KJ</searchLink>; University of Utah, Salt Lake City, Utah; Department of Pediatrics, University of Vermont Medical Center, Burlington, Vermont.<br /><searchLink fieldCode="AU" term="%22Palculict+TB%22">Palculict TB</searchLink>; GeneDx, Gaithersburg, Maryland.<br /><searchLink fieldCode="AU" term="%22Schnur+RE%22">Schnur RE</searchLink>; GeneDx, Gaithersburg, Maryland.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx, Gaithersburg, Maryland.<br /><searchLink fieldCode="AU" term="%22Tiller+GE%22">Tiller GE</searchLink>; Department of Genetics, Kaiser Permanente, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Kahle+KT%22">Kahle KT</searchLink>; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Kunz+WS%22">Kunz WS</searchLink>; Department of Epileptology, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Burkart+S%22">Burkart S</searchLink>; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Simons+M%22">Simons M</searchLink>; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Sticht+H%22">Sticht H</searchLink>; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Abou+Jamra+R%22">Abou Jamra R</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. Electronic address: sonja.neuser@medizin.uni-leipzig.de.
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  Data: <searchLink fieldCode="JN" term="%228508183%22">Pediatric neurology</searchLink> [Pediatr Neurol] 2023 Nov; Vol. 148, pp. 164-171. <i>Date of Electronic Publication: </i>2023 Aug 24.
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