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Exome-based mapping and variant prioritization for inherited Mendelian disorders.
Koboldt, Daniel C; Larson, David E; Sullivan, Lori S; Bowne, Sara J; Steinberg, Karyn M; Churchill, Jennifer D; Buhr, Aimee C; Nutter, Nathan; Pierce, Eric A; Blanton, Susan H; Weinstock, George M; Wilson, Richard K; Daiger, Stephen P.
Afiliación
  • Koboldt DC; The Genome Institute at Washington University, St. Louis, MO 63108, USA. Electronic address: dkoboldt@genome.wustl.edu.
  • Larson DE; The Genome Institute at Washington University, St. Louis, MO 63108, USA.
  • Sullivan LS; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA.
  • Bowne SJ; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA.
  • Steinberg KM; The Genome Institute at Washington University, St. Louis, MO 63108, USA.
  • Churchill JD; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA.
  • Buhr AC; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA.
  • Nutter N; The Genome Institute at Washington University, St. Louis, MO 63108, USA.
  • Pierce EA; Ocular Genomics Institute, Harvard Medical School, Boston, MA 02114, USA.
  • Blanton SH; Hussman Institute of Human Genomics, University of Miami, Miami, FL 33101, USA.
  • Weinstock GM; The Genome Institute at Washington University, St. Louis, MO 63108, USA.
  • Wilson RK; The Genome Institute at Washington University, St. Louis, MO 63108, USA.
  • Daiger SP; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA. Electronic address: stephen.p.daiger@uth.tmc.edu.
Am J Hum Genet ; 94(3): 373-84, 2014 Mar 06.
Article en En | MEDLINE | ID: mdl-24560519
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Mapeo Cromosómico / Exoma Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Mapeo Cromosómico / Exoma Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article