文献
J-GLOBAL ID:202202279899853483
整理番号:22A1111905
複数のヒストンH4遺伝子を横切る再発性de novoミスセンス変異体は神経発達症候群の基礎となる【JST・京大機械翻訳】
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
著者 (74件):
Tessadori Federico
(Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands)
,
Duran Karen
(Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands)
,
Knapp Karen
(Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand)
,
Fellner Matthias
(Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand)
,
Smithson Sarah
(Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK)
,
Beleza Meireles Ana
(Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK)
,
Elting Mariet W.
(Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands)
,
Waisfisz Quinten
(Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands)
,
O’Donnell-Luria Anne
(Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA)
,
O’Donnell-Luria Anne
(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)
,
O’Donnell-Luria Anne
(Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA)
,
Nowak Catherine
(Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA)
,
Douglas Jessica
(Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA)
,
Ronan Anne
(Clinical Genetics, Hunter Genetics Unit, Waratah, NSW 2298, Australia)
,
Brunet Theresa
(Institute of Medical Genetics, 81675 Munchen, Germany)
,
Brunet Theresa
(Institute of Neurogenomics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany)
,
Kotzaeridou Urania
(Division of Child Neurology and Inherited Metabolic Diseases, Department of Pediatrics, Heidelberg University Hospital, 69120 Heidelberg, Germany)
,
Svihovec Shayna
(Section of Genetics and Metabolism, Department of Pediatrics, The Children’s Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA)
,
Saenz Margarita S.
(Section of Genetics and Metabolism, Department of Pediatrics, The Children’s Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA)
,
Thiffault Isabelle
(University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA)
,
Thiffault Isabelle
(Center for Genomic Medicine, Children’s Mercy Research Institute, Kansas City, MO 64108, USA)
,
Thiffault Isabelle
(Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA)
,
Del Viso Florencia
(Center for Genomic Medicine, Children’s Mercy Research Institute, Kansas City, MO 64108, USA)
,
Del Viso Florencia
(Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA)
,
Devine Patrick
(Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA)
,
Rego Shannon
(Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA)
,
Tenney Jessica
(Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA)
,
van Haeringen Arie
(Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands)
,
Ruivenkamp Claudia A.L.
(Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands)
,
Koene Saskia
(Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands)
,
Robertson Stephen P.
(Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand)
,
Deshpande Charulata
(Guy’s and St Thomas’ NHS Foundation Trust, London SE1 9RT, UK)
,
Pfundt Rolph
(Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands)
,
Verbeek Nienke
(Department of Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, the Netherlands)
,
van de Kamp Jiddeke M.
(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)
,
Weiss Janneke M.M.
(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA)
,
Weiss Janneke M.M.
(Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands)
,
Ruiz Anna
(Genetics Laboratory, UDIAT-Centre Diagnostic, Parc Tauli Hospital Universitari, Institut d’Investigacio i Innovacio Parc Tauli I3PT, Universitat Autonoma de Barcelona, 08208 Sabadell, Spain)
,
Gabau Elisabeth
(Paediatric Unit, Parc Tauli Hospital Universitari, Institut d’Investigacio i Innovacio Parc Tauli I3PT, Universitat Autonoma de Barcelona, 08208 Sabadell, Barcelona, Spain)
,
Banne Ehud
(Kaplan Medical Center, Clalit Health Services, Rehovot 76100, Israel)
,
Pepler Alexander
(Praxis fuer Humangenetik Tuebingen, 72076 Tuebingen, Germany)
,
Bottani Armand
(Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland)
,
Laurent Sacha
(Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland)
,
Guipponi Michel
(Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland)
,
Bijlsma Emilia
(Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands)
,
Bruel Ange-Line
(UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, 21078 Dijon, France)
,
Bruel Ange-Line
(Centre de Reference Deficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21079 Dijon, France)
,
Sorlin Arthur
(Centre de Reference Maladies Rares “Anomalies du developpement et syndromes malformatifs,” Centre de Genetique, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21079 Dijon, France)
,
Willis Mary
(Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA 92134, USA)
,
Powis Zoe
(Ambry Genetics, CA 92656, USA)
,
Smol Thomas
(Univ. Lille, RADEME EA7364, CHU Lille, Institut de Genetique Medicale, 59000 Lille, France)
,
Vincent-Delorme Catherine
(Department of Clinical Genetics, CHU Lille, 59000 Lille, France)
,
Baralle Diana
(Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK)
,
Colin Estelle
(Service de Genetique Medicale, CHU d’Angers, 49933 Angers, France)
,
Revencu Nicole
(Center for Human Genetics, Cliniques Universitaires Saint-Luc, Universite Catholique de Louvain, 1200 Brussels, Belgium)
,
Calpena Eduardo
(MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK)
,
Wilkie Andrew O.M.
(MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK)
,
Chopra Maya
(Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Boston, MA 02115, USA)
,
Cormier-Daire Valerie
(Universite de Paris, Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015 Paris, France)
,
Keren Boris
(Genetic Department, APHP, Sorbonne Universite, Pitie-Salpetriere Hospital, 47-83 Boulevard de l’Hopital, 75013 Paris, France)
,
Afenjar Alexandra
(CRMR Malformations et Maladies Congenitales du Cervelet et Deficiences Intellectuelles de Causes Rares, Departement de Genetique, Sorbonne Universite, AP-HP, Hopital Trousseau, 75012 Paris, France)
,
Niceta Marcello
(Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesu, IRCCS, 00146 Rome, Italy)
,
Terracciano Alessandra
(Area di Ricerca Medicina Multimodale di Laboratorio, Ospedale Pediatrico Bambino Gesu, IRCCS, 00146 Rome, Italy)
,
Specchio Nicola
(Area di Ricerca Scienze Neurologiche e Medicina Riabilitativa, Ospedale Pediatrico Bambino Gesu, IRCCS, 00163 Rome, Italy)
,
Tartaglia Marco
(Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesu, IRCCS, 00146 Rome, Italy)
,
Rio Marlene
(Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, 75015 Paris, France)
,
Barcia Giulia
(Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, 75015 Paris, France)
,
Rondeau Sophie
(Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, 75015 Paris, France)
,
Colson Cindy
(CHU Lille, Clinique de Genetique, 59000 Lille, France)
,
Bakkers Jeroen
(Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands)
,
Bakkers Jeroen
(Department of Pediatric Cardiology, Division of Pediatrics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands)
,
Mace Peter D.
(Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand)
,
Bicknell Louise S.
(Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand)
,
van Haaften Gijs
(Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
109
号:
4
ページ:
750-758
発行年:
2022年
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
オランダ (NLD)
言語:
英語 (EN)