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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Li, Mindy H; Abrudan, Jenica L; Dulik, Matthew C; Sasson, Ariella; Brunton, Joshua; Jayaraman, Vijayakumar; Dugan, Noreen; Haley, Danielle; Rajagopalan, Ramakrishnan; Biswas, Sawona; Sarmady, Mahdi; DeChene, Elizabeth T; Deardorff, Matthew A; Wilkens, Alisha; Noon, Sarah E; Scarano, Maria I; Santani, Avni B; White, Peter S; Pennington, Jeffrey; Conlin, Laura K; Spinner, Nancy B; Krantz, Ian D; Vetter, Victoria L.
Afiliación
  • Li MH; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. lim@email.chop.edu.
  • Abrudan JL; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. lim@email.chop.edu.
  • Dulik MC; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. AbrudanP@email.chop.edu.
  • Sasson A; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. AbrudanP@email.chop.edu.
  • Brunton J; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DulikM@email.chop.edu.
  • Jayaraman V; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. DulikM@email.chop.edu.
  • Dugan N; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sassona@email.chop.edu.
  • Haley D; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. joshua.s.brunton@gmail.com.
  • Rajagopalan R; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. joshua.s.brunton@gmail.com.
  • Biswas S; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. JayaramanV1@email.chop.edu.
  • Sarmady M; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. JayaramanV1@email.chop.edu.
  • DeChene ET; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. dugann@email.chop.edu.
  • Deardorff MA; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. dugann@email.chop.edu.
  • Wilkens A; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. daniellemhaley@gmail.com.
  • Noon SE; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. daniellemhaley@gmail.com.
  • Scarano MI; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. rajagopalanr@email.chop.edu.
  • Santani AB; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. rajagopalanr@email.chop.edu.
  • White PS; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. biswass1@email.chop.edu.
  • Pennington J; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sarmadym@email.chop.edu.
  • Conlin LK; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DecheneE@email.chop.edu.
  • Spinner NB; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. DecheneE@email.chop.edu.
  • Krantz ID; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DEARDORFF@email.chop.edu.
  • Vetter VL; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. DEARDORFF@email.chop.edu.
Hum Genomics ; 9: 15, 2015 Jul 19.
Article en En | MEDLINE | ID: mdl-26187847
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Muerte Súbita Cardíaca / Genómica / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans Idioma: En Revista: Hum Genomics Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Muerte Súbita Cardíaca / Genómica / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans Idioma: En Revista: Hum Genomics Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido