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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

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Title: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Authors: Christensen MB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Levy AM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Mohammadi NA; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Kaiyrzhanov R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK., Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Al Alam C; Pediatric Neurology department, American center for Psychiatry and Neurology, Al Ain, United Arab Emirates.; Pediatric Neurology department, Haykel Hospital, El Koura, Lebanon., Alesi V; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Benoit V; IPG, Centre for Human Genetics, Charleroi, Belgium., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Boßelmann CM; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Buratti J; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Dehghani M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., D'haenens E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Doco-Fenzy M; SFR CAP SANTE, HMB2 CHU Reims, Reims, France.; CHU de Nantes, service de génétique médicale, Nantes, France., Geßner M; KfH-Board of Trustees for Dialysis and Kidney Transplantation (KfH-Kuratorium für Dialyse und Nierentransplantation e.V.), Neu Isenburg, Germany., Gobert C; Neuropediatric department, Centre Hospitalier Neurologique William Lennox, Ottignies, Belgium., Guliyeva U; Department of Pediatrics, MediClub Hospital, Baku, Azerbaijan., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark., Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; MVZ Humangenetik und Molekularpathologie GmbH, Rostock, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hoffmann U; St. Franziskus-Hospital, Münster, Germany., Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany., Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK., Keren B; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Kresge C; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Kumps C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Lederer D; IPG, Centre for Human Genetics, Charleroi, Belgium., Lermine A; LBBMS SeqOIA, AP-HP, Paris, France., Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK., Vahidi Mehrjardi MY; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Moudi M; Department of Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Oostra AJ; Neuropediatric department, Ghent University Hospital, Ghent, Belgium.; Centre for Developmental disorders, University Hospital Ghent, Ghent, Belgium., Pletcher BA; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain., Samarasekera S; Neurology Department, Queen Elizabeth Hospital, Birmingham, UK., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Van Schil K; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Wassmer E; Neurology Department, Birmingham Women and Children's Hospital, Birmingham, UK.; Institute of Health and Neurodevelopment, Aston University, Birmingham, UK., Winkelmann J; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt., Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Source: Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 98-109. Date of Electronic Publication: 2022 Jun 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1399-0004
DOI:10.1111/cge.14165