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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; Diaz-Rosado, Abdias; Peixoto de Barcelos, Isabella; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Andrews, Marisa; Baldridge, Dustin; Constantino, John; van Haeringen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M; Au, Margaret; Faivre, Laurence; Shen, Wei; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica.
Affiliation
  • Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bryant L; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
  • Wickramasekara RN; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Vaccaro C; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
  • Robertson B; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA.
  • Hallgren J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
  • Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
  • Faundes V; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
  • Duffourd Y; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
  • Lee P; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Simon MC; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
  • de la Cruz X; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Padilla N; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Flores-Mendez M; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Akizu N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Smiler J; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain.
  • Pellegrino Da Silva R; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Li D; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • March M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Diaz-Rosado A; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Choa ZX; 10x Genomics, Pleasanton, CA, USA.
  • Lim CY; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Dubourg C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Journel H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Demurger F; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Mulhern M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Akman C; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.
  • Lippa N; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Andrews M; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.
  • Baldridge D; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Constantino J; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.
  • van Haeringen A; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.
  • Snoeck-Streef I; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.
  • Chow P; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.
  • Hing A; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
  • Graham JM; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
  • Au M; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
  • Faivre L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • Shen W; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • Mao R; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
  • Palumbos J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Viskochil D; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands.
  • Gahl W; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
  • Tifft C; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
  • Macnamara E; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.
  • Hauser N; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.
  • Miller R; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement," FHU-TRANSLAD, Dijon, France.
  • Maffeo J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France.
Sci Adv ; 9(10): eade1463, 2023 03 10.
Article in En | MEDLINE | ID: mdl-36897941
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Megalencephaly / Neurodevelopmental Disorders Type of study: Guideline Limits: Animals / Humans Language: En Journal: Sci Adv Year: 2023 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Megalencephaly / Neurodevelopmental Disorders Type of study: Guideline Limits: Animals / Humans Language: En Journal: Sci Adv Year: 2023 Document type: Article