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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn, Noura S; Marathe, Priya N; Kelly, Nicole R; Bonini, Katherine E; Sebastin, Monisha; Odgis, Jacqueline A; Abhyankar, Avinash; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M; Guha, Saurav; Ioele, Nicolette; Okur, Volkan; Ramos, Michelle A; Rodriguez, Jessica E; Rehman, Atteeq U; Thomas-Wilson, Amanda; Edelmann, Lisa; Zinberg, Randi E; Diaz, George A; Greally, John M; Jobanputra, Vaidehi; Suckiel, Sabrina A; Horowitz, Carol R; Wasserstein, Melissa P; Kenny, Eimear E; Gelb, Bruce D.
Afiliação
  • Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; 23andMe, Inc., Sunnyvale, CA.
  • Marathe PN; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Kelly NR; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Sebastin M; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Odgis JA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Abhyankar A; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Brown K; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Illumina Incorporated, San Diego, CA.
  • Di Biase M; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Gallagher KM; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Invitae Corporation, San Francisco, CA.
  • Guha S; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Ioele N; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Memorial Sloan Kettering Cancer Center, New York, NY.
  • Okur V; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Ramos MA; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Rodriguez JE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Rehman AU; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Edelmann L; Sema4, Stamford, CT.
  • Zinberg RE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; iECURE Incorporated, Phila
  • Greally JM; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • Suckiel SA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Horowitz CR; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Wasserstein MP; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: eimear.kenny@mss
  • Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic addre
Genet Med ; 25(9): 100880, 2023 09.
Article em En | MEDLINE | ID: mdl-37158195
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Patologia Molecular Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Patologia Molecular Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article