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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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DbLabel: MEDLINE Ultimate
An: 35616059
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  Data: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Christensen+MB%22">Christensen MB</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Levy+AM%22">Levy AM</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Mohammadi+NA%22">Mohammadi NA</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Niceta+M%22">Niceta M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Kaiyrzhanov+R%22">Kaiyrzhanov R</searchLink>; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Dentici+ML%22">Dentici ML</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Al+Alam+C%22">Al Alam C</searchLink>; Pediatric Neurology department, American center for Psychiatry and Neurology, Al Ain, United Arab Emirates.; Pediatric Neurology department, Haykel Hospital, El Koura, Lebanon.<br /><searchLink fieldCode="AU" term="%22Alesi+V%22">Alesi V</searchLink>; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Benoit+V%22">Benoit V</searchLink>; IPG, Centre for Human Genetics, Charleroi, Belgium.<br /><searchLink fieldCode="AU" term="%22Bhatia+KP%22">Bhatia KP</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Bierhals+T%22">Bierhals T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Boßelmann+CM%22">Boßelmann CM</searchLink>; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Callewaert+B%22">Callewaert B</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Ceulemans+B%22">Ceulemans B</searchLink>; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Charles+P%22">Charles P</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22De+Wachter+M%22">De Wachter M</searchLink>; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Dehghani+M%22">Dehghani M</searchLink>; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.<br /><searchLink fieldCode="AU" term="%22D'haenens+E%22">D'haenens E</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Doco-Fenzy+M%22">Doco-Fenzy M</searchLink>; SFR CAP SANTE, HMB2 CHU Reims, Reims, France.; CHU de Nantes, service de génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Geßner+M%22">Geßner M</searchLink>; KfH-Board of Trustees for Dialysis and Kidney Transplantation (KfH-Kuratorium für Dialyse und Nierentransplantation e.V.), Neu Isenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Gobert+C%22">Gobert C</searchLink>; Neuropediatric department, Centre Hospitalier Neurologique William Lennox, Ottignies, Belgium.<br /><searchLink fieldCode="AU" term="%22Guliyeva+U%22">Guliyeva U</searchLink>; Department of Pediatrics, MediClub Hospital, Baku, Azerbaijan.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hammer+TB%22">Hammer TB</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Heinrich+T%22">Heinrich T</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; MVZ Humangenetik und Molekularpathologie GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Herget+T%22">Herget T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffmann+U%22">Hoffmann U</searchLink>; St. Franziskus-Hospital, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Horvath+J%22">Horvath J</searchLink>; Institute of Human Genetics, University of Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kresge+C%22">Kresge C</searchLink>; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.<br /><searchLink fieldCode="AU" term="%22Kumps+C%22">Kumps C</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; 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Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Oostra+AJ%22">Oostra AJ</searchLink>; Neuropediatric department, Ghent University Hospital, Ghent, Belgium.; Centre for Developmental disorders, University Hospital Ghent, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Pletcher+BA%22">Pletcher BA</searchLink>; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.<br /><searchLink fieldCode="AU" term="%22Ros-Pardo+D%22">Ros-Pardo D</searchLink>; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Samarasekera+S%22">Samarasekera S</searchLink>; Neurology Department, Queen Elizabeth Hospital, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Van+Schil+K%22">Van Schil K</searchLink>; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Vogt+J%22">Vogt J</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Wassmer+E%22">Wassmer E</searchLink>; Neurology Department, Birmingham Women and Children's Hospital, Birmingham, UK.; Institute of Health and Neurodevelopment, Aston University, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Winkelmann+J%22">Winkelmann J</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="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.<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.<br /><searchLink fieldCode="AU" term="%22Lerche+H%22">Lerche H</searchLink>; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Radio+FC%22">Radio FC</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Gomez-Puertas+P%22">Gomez-Puertas P</searchLink>; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Tümer+Z%22">Tümer Z</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 98-109. <i>Date of Electronic Publication: </i>2022 Jun 08.
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            NameFull: Ros-Pardo D
      – PersonEntity:
          Name:
            NameFull: Samarasekera S
      – PersonEntity:
          Name:
            NameFull: Tartaglia M
      – PersonEntity:
          Name:
            NameFull: Van Schil K
      – PersonEntity:
          Name:
            NameFull: Vogt J
      – PersonEntity:
          Name:
            NameFull: Wassmer E
      – PersonEntity:
          Name:
            NameFull: Winkelmann J
      – PersonEntity:
          Name:
            NameFull: Zaki MS
      – PersonEntity:
          Name:
            NameFull: Zech M
      – PersonEntity:
          Name:
            NameFull: Lerche H
      – PersonEntity:
          Name:
            NameFull: Radio FC
      – PersonEntity:
          Name:
            NameFull: Gomez-Puertas P
      – PersonEntity:
          Name:
            NameFull: Møller RS
      – PersonEntity:
          Name:
            NameFull: Tümer Z
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: 2022 Aug
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 102
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1