A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.

McNulty, Samantha N; Evenson, Michael J; Riley, Meaghan; Yoest, Jennifer M; Corliss, Meagan M; Heusel, Jonathan W; Duncavage, Eric J; Pfeifer, John D

McNulty, Samantha N; Evenson, Michael J; Riley, Meaghan; Yoest, Jennifer M; Corliss, Meagan M; Heusel, Jonathan W; Duncavage, Eric J; Pfeifer, John D.

Afiliação

McNulty SN; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.
Evenson MJ; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.
Riley M; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri; Summit Pathology, Loveland, Colorado.
Yoest JM; Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Corliss MM; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.
Heusel JW; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri.
Duncavage EJ; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.
Pfeifer JD; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri. Electronic address: jdpfeifer@wustl.edu.

J Mol Diagn ; 23(2): 200-211, 2021 02.

Article em En | MEDLINE | ID: mdl-33217554

Assuntos

Síndrome Congênita de Insuficiência da Medula Óssea/genética; Síndrome Congênita de Insuficiência da Medula Óssea/patologia; Sequenciamento de Nucleotídeos em Larga Escala; Neutropenia/congênito; Cromossomos Humanos Par 7/genética; Estudos de Coortes; Dosagem de Genes; Genoma Humano; Humanos; Mutação/genética; Neutropenia/genética; Neutropenia/patologia; Reprodutibilidade dos Testes

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala / Síndrome Congênita de Insuficiência da Medula Óssea / Neutropenia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2021 Tipo de documento: Article

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