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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

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Title: Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Authors: Herbst C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Axer-Schaefer S; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Audebert-Bellanger S; Department of Genetics, CHU Brest, 29000, Brest, France., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Cogne B; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Horn AHC; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Erlangen National High Performance Computing Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Kelly MA; HudsonAlpha Clinical Services Lab, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital University of Arizona College of Medicine, Phoenix, USA., Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Laquerriere A; Department of Anatomy, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Li M; Invitae Corp, San Francisco, CA, USA., Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Morawski M; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Nizon M; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., Polster T; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., SeSong J; Genomic Medicine Institute, Seoul National University, Seoul, Republic of Korea., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Stieler JT; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Thifffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., van Eyk CL; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Marcorelles P; Department of Anatomy, CHU Brest, 29000, Brest, France., Vezain-Mouchard M; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. henry.oppermann@medizin.uni-leipzig.de.
Source: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 455-469. Date of Electronic Publication: 2024 Mar 25.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
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  Data: <searchLink fieldCode="AU" term="%22Herbst+C%22">Herbst C</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Bothe+V%22">Bothe V</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Wegler+M%22">Wegler M</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Axer-Schaefer+S%22">Axer-Schaefer S</searchLink>; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany.<br /><searchLink fieldCode="AU" term="%22Audebert-Bellanger+S%22">Audebert-Bellanger S</searchLink>; Department of Genetics, CHU Brest, 29000, Brest, France.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Feldman+HB%22">Feldman HB</searchLink>; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Horn+AHC%22">Horn AHC</searchLink>; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Erlangen National High Performance Computing Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Kelly+MA%22">Kelly MA</searchLink>; HudsonAlpha Clinical Services Lab, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.<br /><searchLink fieldCode="AU" term="%22Kruer+MC%22">Kruer MC</searchLink>; Barrow Neurological Institute, Phoenix Children's Hospital University of Arizona College of Medicine, Phoenix, USA.<br /><searchLink fieldCode="AU" term="%22Kurolap+A%22">Kurolap A</searchLink>; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Laquerriere+A%22">Laquerriere A</searchLink>; Department of Anatomy, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Li+M%22">Li M</searchLink>; Invitae Corp, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Mark+PR%22">Mark PR</searchLink>; Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA.<br /><searchLink fieldCode="AU" term="%22Morawski+M%22">Morawski M</searchLink>; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Pastinen+T%22">Pastinen T</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA.<br /><searchLink fieldCode="AU" term="%22Polster+T%22">Polster T</searchLink>; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22SeSong+J%22">SeSong J</searchLink>; Genomic Medicine Institute, Seoul National University, Seoul, Republic of Korea.<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="%22Stieler+JT%22">Stieler JT</searchLink>; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Thifffault+I%22">Thifffault I</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA.<br /><searchLink fieldCode="AU" term="%22van+Eyk+CL%22">van Eyk CL</searchLink>; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Marcorelles+P%22">Marcorelles P</searchLink>; Department of Anatomy, CHU Brest, 29000, Brest, France.<br /><searchLink fieldCode="AU" term="%22Vezain-Mouchard+M%22">Vezain-Mouchard M</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Abou+Jamra+R%22">Abou Jamra R</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Oppermann+H%22">Oppermann H</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. henry.oppermann@medizin.uni-leipzig.de.
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