Your browser doesn't support javascript.
loading
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Magnusson, Måns; Kvarnung, Malin; Nilsson, Daniel; Lesko, Nicole; Engvall, Martin; Anderlid, Britt-Marie; Arnell, Henrik; Johansson, Carolina Backman; Barbaro, Michela; Björck, Erik; Bruhn, Helene; Eisfeldt, Jesper; Freyer, Christoph; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjö, Anna; Hellström-Pigg, Maritta; Iwarsson, Erik; Jemt, Anders; Laaksonen, Mikael; Enoksson, Sara Lind; Malmgren, Helena; Naess, Karin; Nordenskjöld, Magnus; Oscarson, Mikael; Pettersson, Maria; Rasi, Chiara; Rosenbaum, Adam; Sahlin, Ellika; Sardh, Eliane; Stödberg, Tommy; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; von Döbeln, Ulrika; Vassiliou, Daphne; Vonlanthen, Sofie; Wikström, Ann-Charlotte; Wincent, Josephine; Winqvist, Ola; Wredenberg, Anna; Ygberg, Sofia; Zetterström, Rolf H; Marits, Per; Soller, Maria Johansson; Nordgren, Ann; Wirta, Valtteri.
Afiliação
  • Stranneheim H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lagerstedt-Robinson K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Magnusson M; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
  • Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Nilsson D; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Lesko N; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Engvall M; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
  • Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Arnell H; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Johansson CB; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Barbaro M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Björck E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Bruhn H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Freyer C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Gustavsson P; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Hammarsjö A; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Hellström-Pigg M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Iwarsson E; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Jemt A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Laaksonen M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Enoksson SL; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Malmgren H; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Naess K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Nordenskjöld M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Oscarson M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Pettersson M; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Rasi C; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Rosenbaum A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Sahlin E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Sardh E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Stödberg T; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Tesi B; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Thonberg H; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Töhönen V; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • von Döbeln U; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Vassiliou D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Vonlanthen S; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institutet of Technology, Stockholm, Sweden.
  • Wikström AC; Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.
  • Wincent J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Winqvist O; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Ygberg S; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Zetterström RH; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Marits P; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Soller MJ; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Nordgren A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Wirta V; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Genome Med ; 13(1): 40, 2021 03 17.
Article em En | MEDLINE | ID: mdl-33726816
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atenção à Saúde / Doenças Raras / Sequenciamento Completo do Genoma Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atenção à Saúde / Doenças Raras / Sequenciamento Completo do Genoma Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article