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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya.
Affiliation
  • Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands.
  • Duran K; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands.
  • Knapp K; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand.
  • Fellner M; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand.
  • Smithson S; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK.
  • Beleza Meireles A; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK.
  • Elting MW; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands.
  • Waisfisz Q; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands.
  • O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Nowak C; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Douglas J; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Ronan A; Clinical Genetics, Hunter Genetics Unit, Waratah, NSW 2298, Australia.
  • Brunet T; Institute of Medical Genetics, 81675 Munchen, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Department of Pediatrics, Heidelberg University Hospital, 69120 Heidelberg, Germany.
  • Svihovec S; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
  • Saenz MS; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
  • Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Del Viso F; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Devine P; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Rego S; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Tenney J; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • Koene S; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
  • Deshpande C; Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • Verbeek N; Department of Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, the Netherlands.
  • van de Kamp JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Weiss JMM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Spain.
  • Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.
  • Banne E; Kaplan Medical Center, Clalit Health Services, Rehovot 76100, Israel.
  • Pepler A; Praxis für Humangenetik Tübingen, 72076 Tuebingen, Germany.
  • Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland.
  • Laurent S; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland.
  • Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland.
  • Bijlsma E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, 21078 Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21079 Dijon, France.
  • Sorlin A; Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs," Centre de Génétique, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21079 Dijon, France.
  • Willis M; Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA 92134, USA.
  • Powis Z; Ambry Genetics, CA 92656, USA.
  • Smol T; Univ. Lille, RADEME EA7364, CHU Lille, Institut de Génétique Médicale, 59000 Lille, France.
  • Vincent-Delorme C; Department of Clinical Genetics, CHU Lille, 59000 Lille, France.
  • Baralle D; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.
  • Colin E; Service de Génétique Médicale, CHU d'Angers, 49933 Angers, France.
  • Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium.
  • Calpena E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
  • Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
  • Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.
Am J Hum Genet ; 109(4): 750-758, 2022 04 07.
Article in En | MEDLINE | ID: mdl-35202563
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Full text: 1 Database: MEDLINE Main subject: Zebrafish / Histones Type of study: Prognostic_studies Limits: Animals / Humans Language: En Year: 2022 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Zebrafish / Histones Type of study: Prognostic_studies Limits: Animals / Humans Language: En Year: 2022 Type: Article