Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients | Zendy

Jason S. Salvo | Zendy; Vera Lyubasyuk | Zendy; Mingchu Xu | Zendy; Hui Wang | Zendy; Feng Wang | Zendy; Duy H. Nguyen | Zendy; Keqing Wang | Zendy; Hongrong Luo | Zendy; Cindy Wen | Zendy; Catherine Shi | Zendy; Danni Lin | Zendy; Kang Zhang | Zendy; Rui Chen | Zendy

Open Access

Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients

Author(s) -

Jason S. Salvo,

Vera Lyubasyuk,

Mingchu Xu,

Hui Wang,

Feng Wang,

Duy H. Nguyen,

Keqing Wang,

Hongrong Luo,

Cindy Wen,

Catherine Shi,

Danni Lin,

Kang Zhang,

Rui Chen

Publication year - 2015

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.14-16065

Subject(s) - sanger sequencing , hnf1a , genetics , disease , biology , exome sequencing , dna sequencing , gene , cohort , computational biology , nonsense , mutation , bioinformatics , medicine

Familial exudative vitreoretinopathy (FEVR) is a developmental disease that can cause visual impairment and retinal detachment at a young age. Four genes involved in the Wnt signaling pathway were previously linked to this disease: NDP, FDZ4, LRP5, and TSPAN12. Identification of novel disease-causing alleles allows for a deeper understanding of the disease, better molecular diagnosis, and improved treatment.

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