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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts, David; Mirzaa, Ghayda; Yan, Keqin; Relator, Raissa; Timpano, Sara; Yalcin, Binnaz; Collins, Stephan; Ziegler, Alban; Pao, Emily; Oyama, Nora; Brischoux-Boucher, Elise; Piard, Juliette; Monaghan, Kristin; Sacoto, Maria Guillen; Dobyns, William; Park, Kristen; Fernández-Mayoralas, Daniel; Fernández-Jaén, Alberto; Jayakar, Parul; Brusco, Alfredo; Antona, Vincenzo; Giorgio, Elisa; Kvarnung, Malin; Isidor, Bertrand; Conrad, Solène; Cogné, Benjamin; Deb, Wallid; Stuurman, K E; Sterbova, Katalin; Smal, Noor; Weckhuysen, Sarah; Oegema, Renske; Innes, Micheil; Latsko, Maeson; Ben-Omran, Tawfeg; Yeh, Rebecca; Kruer, Michael; Bakhtiari, Somayeh; Papavasiliou, Antigone; Moutton, Sébastien; Nambot, Sophie; Chanprasert, Sirisak; Paolucci, Sarah; Miller, Kait; Burton, Barbara; Kim, Katherine; O'Heir, Emily; Bruwer, Zandre; Donald, Kirsten; Kleefstra, Tjitske.
Affiliation
  • Picketts D; Ottawa Hospital Research Institute.
  • Mirzaa G; Seattle Children's Hospital.
  • Yan K; Ottawa Hospital Research Institute.
  • Relator R; London Health Sciences Centre.
  • Timpano S; Ottawa Hospital Research Institute.
  • Yalcin B; Inserm.
  • Collins S; INSERM UMR-S 1231, University of Bourgogne Franche-Comté.
  • Ziegler A; University Hospital of Angers.
  • Pao E; Seattle Children's Research Institute.
  • Oyama N; Seattle Children's Research Institute.
  • Brischoux-Boucher E; Université de Franche-Comté.
  • Piard J; CHU Besançon.
  • Monaghan K; GeneDx.
  • Sacoto MG; GeneDx, Gaithersburg, MD.
  • Dobyns W; University of Minnesota.
  • Park K; University of Colorado Denver School of Medicine.
  • Fernández-Mayoralas D; Hospital Universitario Quirónsalud.
  • Fernández-Jaén A; Department of Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid.
  • Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital.
  • Brusco A; University of Turin.
  • Antona V; University of Palermo.
  • Giorgio E; University of Pavia.
  • Kvarnung M; Karolinska Institutet.
  • Isidor B; CHU de Nantes.
  • Conrad S; Nantes Université.
  • Cogné B; CHU Nantes.
  • Deb W; Nantes Université.
  • Stuurman KE; Department of Clinical Genetics, Erasmus University Medical Center.
  • Sterbova K; Charles University and Motol Hospital.
  • Smal N; VIB Center for Molecular Neurology.
  • Weckhuysen S; VIB Center for Molecular Neurology.
  • Oegema R; University Medical Center Utrecht.
  • Innes M; University of Calgary.
  • Latsko M; The Steve and Cindy Rasmussen Institute for Genomic Medicine.
  • Ben-Omran T; Hamad Medical Corporation.
  • Yeh R; Boston Children's Hospital.
  • Kruer M; Phoenix Children's Hospital.
  • Bakhtiari S; University of Arizona College of Medicine.
  • Papavasiliou A; IASO Children's Hospital.
  • Moutton S; CHU François Mitterrand.
  • Nambot S; Centre de Génétique et Centre de référence «Anomalies du Développement et Syndromes Malformatifs¼, Hôpital d'Enfants, Centre Hospitalier.
  • Chanprasert S; University of Washington.
  • Paolucci S; University of Washington.
  • Miller K; University of Washington School of Medicine.
  • Burton B; Northwestern University Feinberg School of Medicine.
  • Kim K; Northwestern University Feinberg School of Medicine.
  • O'Heir E; Broad Institute of MIT and Harvard.
  • Bruwer Z; University of Cape Town.
  • Donald K; Division of Developmental Paediatrics, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Klipfontein Road/Private Bag, Rondebosch, 7700/7701, Cape Town, South A.
  • Kleefstra T; Radboud University Medical Centre.
Res Sq ; 2023 Sep 29.
Article in En | MEDLINE | ID: mdl-37841849
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Res Sq Year: 2023 Document type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Res Sq Year: 2023 Document type: Article