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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker, Samuel W; Murrell, Jill R; Nesbitt, Addie I; Pechter, Kieran B; Balciuniene, Jorune; Zhao, Xiaonan; Yu, Zhenming; Denenberg, Elizabeth H; DeChene, Elizabeth T; Wilkens, Alisha B; Bhoj, Elizabeth J; Guan, Qiaoning; Dulik, Matthew C; Conlin, Laura K; Abou Tayoun, Ahmad N; Luo, Minjie; Wu, Chao; Cao, Kajia; Sarmady, Mahdi; Bedoukian, Emma C; Tarpinian, Jennifer; Medne, Livija; Skraban, Cara M; Deardorff, Matthew A; Krantz, Ian D; Krock, Bryan L; Santani, Avni B.
Afiliación
  • Baker SW; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Nesbitt AI; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Zhao X; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Yu Z; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Denenberg EH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • DeChene ET; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Wilkens AB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia.
  • Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia.
  • Guan Q; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Dulik MC; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Abou Tayoun AN; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Luo M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Wu C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Cao K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia.
  • Sarmady M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia.
  • Tarpinian J; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia.
  • Medne L; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia.
  • Skraban CM; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Deardorff MA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Krantz ID; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Krock BL; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Santani AB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: santani@email.chop.edu.
J Mol Diagn ; 21(1): 38-48, 2019 01.
Article en En | MEDLINE | ID: mdl-30577886
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2019 Tipo del documento: Article