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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Romasko, Edward J; Devkota, Batsal; Biswas, Sawona; Jayaraman, Vijayakumar; Rajagopalan, Ramakrishnan; Dulik, Matthew C; Thom, Christopher S; Choi, Jiwon; Jairam, Sowmya; Scarano, Maria I; Krantz, Ian D; Spinner, Nancy B; Conlin, Laura K; Lambert, Michele P.
Afiliação
  • Romasko EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Devkota B; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Biswas S; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Jayaraman V; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Rajagopalan R; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Dulik MC; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Thom CS; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Philadelphia, Pennsylvania.
  • Choi J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Jairam S; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.
  • Scarano MI; Division of Genetics, Cooper Health System, Camden, New Jersey.
  • Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Spinner NB; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Philadelphia, Pennsylvania.
  • Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Lambert MP; Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.
Am J Hematol ; 93(1): 8-16, 2018 01.
Article em En | MEDLINE | ID: mdl-28960434
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos Plaquetários / Análise de Sequência de DNA / Predisposição Genética para Doença Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos Plaquetários / Análise de Sequência de DNA / Predisposição Genética para Doença Idioma: En Ano de publicação: 2018 Tipo de documento: Article