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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir, Gudny A; Oddsson, Asmundur; Jensson, Brynjar O; Gisladottir, Svanborg; Simon, Mariella T; Arnthorsson, Asgeir O; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R; Asmundsson, Jurate; Steffensen, Thora; Gudmundsson, Kjartan R; Ludvigsson, Petur; Jonsson, Jon J; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L; Gudbjartsson, Daniel F; Bjornsson, Hans T; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari.
Affiliation
  • Arnadottir GA; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Oddsson A; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Jensson BO; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Gisladottir S; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Simon MT; Department of Genetics and Molecular Medicine, The National University Hospital of Iceland, Reykjavik, Iceland.
  • Arnthorsson AO; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • Katrinardottir H; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Fridriksdottir R; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Ivarsdottir EV; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Jonasdottir A; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Jonasdottir A; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Barrick R; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Saemundsdottir J; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • le Roux L; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Oskarsson GR; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Asmundsson J; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Steffensen T; Department of Pathology, The National University Hospital of Iceland, Reykjavik, Iceland.
  • Gudmundsson KR; Department of Pathology, The National University Hospital of Iceland, Reykjavik, Iceland.
  • Ludvigsson P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Jonsson JJ; Children's Hospital Iceland, The National University Hospital of Iceland, Reykjavik, Iceland.
  • Masson G; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Jonsdottir I; Department of Genetics and Molecular Medicine, The National University Hospital of Iceland, Reykjavik, Iceland.
  • Holm H; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Jonasson JG; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Magnusson OT; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Thorarensen O; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Abdenur J; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Norddahl GL; Department of Pathology, The National University Hospital of Iceland, Reykjavik, Iceland.
  • Gudbjartsson DF; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Bjornsson HT; Children's Hospital Iceland, The National University Hospital of Iceland, Reykjavik, Iceland.
  • Thorsteinsdottir U; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • Sulem P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Stefansson K; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Nat Commun ; 13(1): 705, 2022 02 04.
Article in En | MEDLINE | ID: mdl-35121750
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Mutation, Missense / Cleavage And Polyadenylation Specificity Factor / Homozygote / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Europa Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Type: Article Affiliation country: Iceland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Mutation, Missense / Cleavage And Polyadenylation Specificity Factor / Homozygote / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Europa Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Type: Article Affiliation country: Iceland