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Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis, Nikolaos M; Svingou, Maria; Veltra, Danai; Kekou, Kyriaki; Sofocleous, Christalena; Tilemis, Faidon-Nikolaos; Kosma, Konstantina; Tsoutsou, Eirini; Fryssira, Helen; Traeger-Synodinos, Joanne.
Afiliação
  • Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Svingou M; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Kekou K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Tilemis FN; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Tsoutsou E; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Fryssira H; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Am J Med Genet A ; 185(8): 2561-2571, 2021 08.
Article em En | MEDLINE | ID: mdl-34008892
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Predisposição Genética para Doença / Estudos de Associação Genética / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Predisposição Genética para Doença / Estudos de Associação Genética / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article