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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand, Anna; Ek, Marlene; Kvarnung, Malin; Anderlid, Britt-Marie; Björck, Erik; Carlsten, Jonas; Eisfeldt, Jesper; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjö, Anna; Helgadóttir, Hafdís T; Hellström-Pigg, Maritta; Kuchinskaya, Ekaterina; Lagerstedt-Robinson, Kristina; Levin, Lars-Åke; Lieden, Agne; Lindelöf, Hillevi; Malmgren, Helena; Nilsson, Daniel; Svensson, Eva; Paucar, Martin; Sahlin, Ellika; Tesi, Bianca; Tham, Emma; Winberg, Johanna; Winerdal, Max; Wincent, Josephine; Johansson Soller, Maria; Pettersson, Maria; Nordgren, Ann.
  • Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address: anna.lindstrand@ki.se.
  • Ek M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Björck E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Carlsten J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Sweden.
  • Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Gustavsson P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Helgadóttir HT; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Hellström-Pigg M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Kuchinskaya E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Levin LÅ; Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden.
  • Lieden A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Malmgren H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Sweden.
  • Svensson E; Department of Pediatric Neurology, Karolinska University Hospital, Huddinge, Sweden.
  • Paucar M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Sahlin E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Tesi B; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Winberg J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Winerdal M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Wincent J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Johansson Soller M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Genet Med ; 24(11): 2296-2307, 2022 11.
Article en En | MEDLINE | ID: mdl-36066546

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article