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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Vrijenhoek, Terry; Kraaijeveld, Ken; Elferink, Martin; de Ligt, Joep; Kranendonk, Elcke; Santen, Gijs; Nijman, Isaac J; Butler, Derek; Claes, Godelieve; Costessi, Adalberto; Dorlijn, Wim; van Eyndhoven, Winfried; Halley, Dicky J J; van den Hout, Mirjam C G N; van Hove, Steven; Johansson, Lennart F; Jongbloed, Jan D H; Kamps, Rick; Kockx, Christel E M; de Koning, Bart; Kriek, Marjolein; Lekanne Dit Deprez, Ronald; Lunstroo, Hans; Mannens, Marcel; Mook, Olaf R; Nelen, Marcel; Ploem, Corrette; Rijnen, Marco; Saris, Jasper J; Sinke, Richard; Sistermans, Erik; van Slegtenhorst, Marjon; Sleutels, Frank; van der Stoep, Nienke; van Tienhoven, Marianne; Vermaat, Martijn; Vogel, Maartje; Waisfisz, Quinten; Marjan Weiss, Janneke; van den Wijngaard, Arthur; van Workum, Wilbert; Ijntema, Helger; van der Zwaag, Bert; van IJcken, Wilfred F J; den Dunnen, Johan; Veltman, Joris A; Hennekam, Raoul; Cuppen, Edwin.
Afiliação
  • Vrijenhoek T; Department of Medical Genetics, Centre for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kraaijeveld K; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Elferink M; Department of Medical Genetics, Centre for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • de Ligt J; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Kranendonk E; Department of Public Health, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Santen G; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Nijman IJ; Department of Medical Genetics, Centre for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Butler D; BaseClear, Leiden, The Netherlands.
  • Claes G; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Costessi A; BaseClear, Leiden, The Netherlands.
  • Dorlijn W; Agilent Technologies Netherlands B.V., Amstelveen, The Netherlands.
  • van Eyndhoven W; Agilent Technologies Netherlands B.V., Amstelveen, The Netherlands.
  • Halley DJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • van den Hout MC; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • van Hove S; Illumina Inc., Eindhoven, The Netherlands.
  • Johansson LF; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Jongbloed JD; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Kamps R; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Kockx CE; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • de Koning B; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Lekanne Dit Deprez R; Department of Human Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Lunstroo H; Roche Nimblegen Inc., Madison, WI, USA.
  • Mannens M; Department of Human Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Mook OR; Department of Human Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Nelen M; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Ploem C; Department of Public Health, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Rijnen M; Life Technologies Europe B.V., Bleiswijk, The Netherlands.
  • Saris JJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Sinke R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Sistermans E; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Sleutels F; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van Tienhoven M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Vermaat M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Vogel M; Department of Medical Genetics, Centre for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Waisfisz Q; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Marjan Weiss J; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Workum W; ServiceXS, Leiden, The Netherlands.
  • Ijntema H; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • van der Zwaag B; Department of Medical Genetics, Centre for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van IJcken WF; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • den Dunnen J; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Veltman JA; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Hennekam R; 1] Department of Human Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands [2] Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Cuppen E; Department of Medical Genetics, Centre for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Eur J Hum Genet ; 23(9): 1142-50, 2015 Sep.
Article em En | MEDLINE | ID: mdl-25626705
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala / Mutação / Cardiomiopatias Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala / Mutação / Cardiomiopatias Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda