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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena, Loren D M; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G; Noel, Richard; Nagaraj, Shashi K; Lark, Robert K; Wechsler, Daniel S G; Del Gaudio, Daniela; Leung, Marco L; Hendon, Laura G; Parker, Collette C; Jones, Kelly L; Goldstein, David B; Shashi, Vandana.
Afiliación
  • Pena LDM; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Jiang YH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Walley N; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Stong N; Institute of Genomic Medicine, Columbia University, New York, New York, USA.
  • Rapisardo Horn S; Department of Pathology, Duke University Medical Center,Durham, North Carolina, USA.
  • Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Kansagra S; Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Smith EC; Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • El-Dairi M; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
  • Bellet J; Departments of Dermatology and Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Keels MA; Departments of Pediatrics and Surgery, Duke University Medical Center, Durham, North Carolina, USA.
  • Jasien J; Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Kranz PG; Division of Neuroradiology, Department of Radiology, Duke University Medical Center, Durham, North Carolina, USA.
  • Noel R; Division of Gastroenterology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Nagaraj SK; Division of Pediatric Nephrology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Lark RK; Department of Orthopedic Surgery, Duke University Medical Center, Durham, North Carolina, USA.
  • Wechsler DSG; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Del Gaudio D; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
  • Leung ML; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
  • Hendon LG; Division of Maternal Fetal Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Parker CC; Division of Child Neurology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Jones KL; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Goldstein DB; Institute of Genomic Medicine, Columbia University, New York, New York, USA.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
Genet Med ; 20(4): 464-469, 2018 04.
Article en En | MEDLINE | ID: mdl-28914269
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Técnicas de Diagnóstico Molecular / Estudios de Asociación Genética / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Técnicas de Diagnóstico Molecular / Estudios de Asociación Genética / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos