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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker, Jordy; Schot, Rachel; Bongaerts, Michiel; de Valk, Walter G; van Veghel-Plandsoen, Monique M; Monfils, Kathryn; Douben, Hannie; Elfferich, Peter; Kasteleijn, Esmee; van Unen, Leontine M A; Geeven, Geert; Saris, Jasper J; van Ierland, Yvette; Verheijen, Frans W; van der Sterre, Marianne L T; Sadeghi Niaraki, Farah; Smits, Daphne J; Huidekoper, Hidde H; Williams, Monique; Wilke, Martina; Verhoeven, Virginie J M; Joosten, Marieke; Kievit, Anneke J A; van de Laar, Ingrid M B H; Hoefsloot, Lies H; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Mancini, Grazia M S; van Ham, Tjakko J.
  • Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Bongaerts M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • de Valk WG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Monfils K; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Douben H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Elfferich P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Kasteleijn E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • van Unen LMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Geeven G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Saris JJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • van Ierland Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Verheijen FW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • van der Sterre MLT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Sadeghi Niaraki F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Smits DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Huidekoper HH; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Williams M; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Nellist M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.
  • van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands. Electronic address: t.vanham@erasmusmc.nl.
Am J Hum Genet ; 110(2): 251-272, 2023 02 02.
Article en En | MEDLINE | ID: mdl-36669495
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Perfilación de la Expresión Génica / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Perfilación de la Expresión Génica / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article