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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand, Anna; Eisfeldt, Jesper; Pettersson, Maria; Carvalho, Claudia M B; Kvarnung, Malin; Grigelioniene, Giedre; Anderlid, Britt-Marie; Bjerin, Olof; Gustavsson, Peter; Hammarsjö, Anna; Georgii-Hemming, Patrik; Iwarsson, Erik; Johansson-Soller, Maria; Lagerstedt-Robinson, Kristina; Lieden, Agne; Magnusson, Måns; Martin, Marcel; Malmgren, Helena; Nordenskjöld, Magnus; Norling, Ameli; Sahlin, Ellika; Stranneheim, Henrik; Tham, Emma; Wincent, Josephine; Ygberg, Sofia; Wedell, Anna; Wirta, Valtteri; Nordgren, Ann; Lundin, Johanna; Nilsson, Daniel.
Afiliação
  • Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. anna.lindstrand@ki.se.
  • Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. anna.lindstrand@ki.se.
  • Pettersson M; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. anna.lindstrand@ki.se.
  • Carvalho CMB; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Grigelioniene G; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Anderlid BM; Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Bjerin O; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Gustavsson P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Hammarsjö A; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Georgii-Hemming P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Iwarsson E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Johansson-Soller M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lagerstedt-Robinson K; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Lieden A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Magnusson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Martin M; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Malmgren H; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Norling A; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Sahlin E; The Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Stranneheim H; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Wincent J; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Ygberg S; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Wirta V; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Nordgren A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Lundin J; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Genome Med ; 11(1): 68, 2019 11 07.
Article em En | MEDLINE | ID: mdl-31694722
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Genoma Humano / Análise Citogenética / Polimorfismo de Nucleotídeo Único / Sequenciamento Completo do Genoma / Deficiência Intelectual Tipo de estudo: Observational_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Genome Med Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Suécia País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Genoma Humano / Análise Citogenética / Polimorfismo de Nucleotídeo Único / Sequenciamento Completo do Genoma / Deficiência Intelectual Tipo de estudo: Observational_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Genome Med Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Suécia País de publicação: Reino Unido