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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li, Dong; Wang, Qin; Gong, Naihua N; Kurolap, Alina; Feldman, Hagit Baris; Boy, Nikolas; Brugger, Melanie; Grand, Katheryn; McWalter, Kirsty; Guillen Sacoto, Maria J; Wakeling, Emma; Hurst, Jane; March, Michael E; Bhoj, Elizabeth J; Nowaczyk, Malgorzata J M; Gonzaga-Jauregui, Claudia; Mathew, Mariam; Dava-Wala, Ashita; Siemon, Amy; Bartholomew, Dennis; Huang, Yue; Lee, Hane; Martinez-Agosto, Julian A; Schwaibold, Eva M C; Brunet, Theresa; Choukair, Daniela; Pais, Lynn S; White, Susan M; Christodoulou, John; Brown, Dana; Lindstrom, Kristin; Grebe, Theresa; Tiosano, Dov; Kayser, Matthew S; Tan, Tiong Yang; Deardorff, Matthew A; Song, Yuanquan; Hakonarson, Hakon.
Afiliação
  • Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu.
  • Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gong NN; Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Kurolap A; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Feldman HB; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Boy N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Brugger M; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Grand K; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • McWalter K; Institute of Human Genetics, University Hospital LMU Munich, Goethestr. 29, Munich, Germany.
  • Guillen Sacoto MJ; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Wakeling E; GeneDx, Gaithersburg, MD, USA.
  • Hurst J; GeneDx, Gaithersburg, MD, USA.
  • March ME; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Bhoj EJ; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Nowaczyk MJM; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gonzaga-Jauregui C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Mathew M; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
  • Dava-Wala A; Regeneron Genetics Center, Tarrytown, New York, NY, USA.
  • Siemon A; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
  • Bartholomew D; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
  • Huang Y; Department of Pediatrics and Clinical Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
  • Lee H; Department of Pediatrics and Clinical Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
  • Martinez-Agosto JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
  • Schwaibold EMC; Department of Pathology and Laboratory Medicine; Department of Human Genetics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
  • Brunet T; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
  • Choukair D; Department of Pathology and Laboratory Medicine; Department of Human Genetics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
  • Pais LS; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • White SM; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.
  • Christodoulou J; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
  • Brown D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Lindstrom K; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Grebe T; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Tiosano D; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Kayser MS; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Tan TY; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Deardorff MA; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Song Y; College of Medicine, University of Arizona, Phoenix, 475 N. 5th Street, Phoenix, AZ, USA.
  • Hakonarson H; Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, Haifa, Israel.
Sci Adv ; 7(20)2021 05.
Article em En | MEDLINE | ID: mdl-33980485
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Sci Adv Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Sci Adv Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos