Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes.

Hayman, Tamar; Millo, Talya; Hendler, Karen; Chowers, Itay; Gross, Menachem; Banin, Eyal; Sharon, Dror

Hayman, Tamar; Millo, Talya; Hendler, Karen; Chowers, Itay; Gross, Menachem; Banin, Eyal; Sharon, Dror.

Afiliação

Hayman T; Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Millo T; Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Hendler K; Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Chowers I; Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Gross M; Otolaryngology/Head and Neck Surgery, Hadassah Medical Center, Jerusalem, Jerusalem, Israel.
Banin E; Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Sharon D; Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel dror.sharon1@mail.huji.ac.il.

J Med Genet ; 61(3): 224-231, 2024 Feb 21.

Article em En | MEDLINE | ID: mdl-37798099

Assuntos

Doenças Retinianas; Humanos; Sequenciamento do Exoma; Doenças Retinianas/genética; Análise de Sequência de DNA/métodos; DNA; Variações do Número de Cópias de DNA/genética

Palavras-chave

genetic diseases, inborn; genetic heterogeneity; genetic testing; genetics; genomics

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Israel

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