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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng, Linyan; Pammi, Mohan; Saronwala, Anirudh; Magoulas, Pilar; Ghazi, Andrew Ray; Vetrini, Francesco; Zhang, Jing; He, Weimin; Dharmadhikari, Avinash V; Qu, Chunjing; Ward, Patricia; Braxton, Alicia; Narayanan, Swetha; Ge, Xiaoyan; Tokita, Mari J; Santiago-Sim, Teresa; Dai, Hongzheng; Chiang, Theodore; Smith, Hadley; Azamian, Mahshid S; Robak, Laurie; Bostwick, Bret L; Schaaf, Christian P; Potocki, Lorraine; Scaglia, Fernando; Bacino, Carlos A; Hanchard, Neil A; Wangler, Michael F; Scott, Daryl; Brown, Chester; Hu, Jianhong; Belmont, John W; Burrage, Lindsay C; Graham, Brett H; Sutton, Vernon Reid; Craigen, William J; Plon, Sharon E; Lupski, James R; Beaudet, Arthur L; Gibbs, Richard A; Muzny, Donna M; Miller, Marcus J; Wang, Xia; Leduc, Magalie S; Xiao, Rui; Liu, Pengfei; Shaw, Chad; Walkiewicz, Magdalena; Bi, Weimin; Xia, Fan.
Afiliación
  • Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Pammi M; Baylor Genetics Laboratory, Houston, Texas.
  • Saronwala A; Department of Pediatrics, Section of Neonatology, Baylor College of Medicine, Houston, Texas.
  • Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Ghazi AR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Vetrini F; Texas Children's Hospital, Houston.
  • Zhang J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • He W; Baylor Genetics Laboratory, Houston, Texas.
  • Dharmadhikari AV; Baylor Genetics Laboratory, Houston, Texas.
  • Qu C; Baylor Genetics Laboratory, Houston, Texas.
  • Ward P; Baylor Genetics Laboratory, Houston, Texas.
  • Braxton A; Baylor Genetics Laboratory, Houston, Texas.
  • Narayanan S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Ge X; Baylor Genetics Laboratory, Houston, Texas.
  • Tokita MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Santiago-Sim T; Baylor Genetics Laboratory, Houston, Texas.
  • Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Chiang T; Baylor Genetics Laboratory, Houston, Texas.
  • Smith H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Schaaf CP; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Wangler MF; Texas Children's Hospital, Houston.
  • Scott D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Brown C; Texas Children's Hospital, Houston.
  • Hu J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Belmont JW; Texas Children's Hospital, Houston.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Graham BH; Texas Children's Hospital, Houston.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Craigen WJ; Texas Children's Hospital, Houston.
  • Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lupski JR; Texas Children's Hospital, Houston.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Gibbs RA; Texas Children's Hospital, Houston.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Miller MJ; Texas Children's Hospital, Houston.
  • Wang X; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.
  • Leduc MS; Department of Pediatrics, Genetics Division, University of Tennessee Health Science Center, Memphis.
  • Xiao R; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Walkiewicz M; Texas Children's Hospital, Houston.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
JAMA Pediatr ; 171(12): e173438, 2017 12 04.
Article en En | MEDLINE | ID: mdl-28973083
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Unidades de Cuidado Intensivo Pediátrico / Secuenciación del Exoma / Enfermedades Genéticas Congénitas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Humans / Infant / Newborn País/Región como asunto: America do norte Idioma: En Revista: JAMA Pediatr Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Unidades de Cuidado Intensivo Pediátrico / Secuenciación del Exoma / Enfermedades Genéticas Congénitas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Humans / Infant / Newborn País/Región como asunto: America do norte Idioma: En Revista: JAMA Pediatr Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos