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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

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Title: Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Authors: Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany., Li Y; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Yigit G; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Altmüller J; Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Bevot A; Department of Pediatric Neurology, University Hospital Tübingen, Tübingen, Germany., Biskup S; Praxis für Humangenetik Tübingen, Tübingen, Germany., Dreha-Kulaczewski S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany., Christoph Korenke G; Department of Pediatric Neurology, University Hospital Oldenburg, Oldenburg, Germany., Kottke R; Department of Diagnostic Imaging, University Children's Hospital, Zurich, Switzerland., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Preisel M; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Toelle SP; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland., Wente-Schulz S; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School Children's Hospital, Hannover, Germany., Wortmann SB; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Hahn H; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Boltshauser E; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland., Uhmann A; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany. kbrock@med.uni-goettingen.de.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 341-351. Date of Electronic Publication: 2020 Oct 07.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
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  Data: <searchLink fieldCode="AU" term="%22Schröder+S%22">Schröder S</searchLink>; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Yigit+G%22">Yigit G</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Altmüller+J%22">Altmüller J</searchLink>; Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Bader+I%22">Bader I</searchLink>; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Bevot+A%22">Bevot A</searchLink>; Department of Pediatric Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; Praxis für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Dreha-Kulaczewski+S%22">Dreha-Kulaczewski S</searchLink>; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Christoph+Korenke+G%22">Christoph Korenke G</searchLink>; Department of Pediatric Neurology, University Hospital Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kottke+R%22">Kottke R</searchLink>; Department of Diagnostic Imaging, University Children's Hospital, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Preisel+M%22">Preisel M</searchLink>; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Toelle+SP%22">Toelle SP</searchLink>; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Wente-Schulz+S%22">Wente-Schulz S</searchLink>; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School Children's Hospital, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Wortmann+SB%22">Wortmann SB</searchLink>; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hahn+H%22">Hahn H</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Boltshauser+E%22">Boltshauser E</searchLink>; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Uhmann+A%22">Uhmann A</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wollnik+B%22">Wollnik B</searchLink>; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Brockmann+K%22">Brockmann K</searchLink>; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany. kbrock@med.uni-goettingen.de.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2021 Feb; Vol. 23 (2), pp. 341-351. <i>Date of Electronic Publication: </i>2020 Oct 07.
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