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Article

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.

Scientific reports - 7 Jun 2022

Ganapathi Mythily, Thomas-Wilson Amanda, Buchovecky Christie, Dharmadhikari Avinash, Barua Subit, Lee Winston, Ruan Merry Z C, Soucy Megan, Ragi Sara, Tanaka Joy, Clark Lorraine N, Naini Ali B, Liao Jun, Mansukhani Mahesh, Tsang Stephen, Jobanputra Vaidehi

Abstract excerpt

Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of individuals with hereditary retinal disorders. It is a retrospective study of 357 unrelated affected individuals, diagnosed with retinal disorders who underwent clinical...

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Identifiers

PMID: 35672425
DOI: 10.1038/s41598-022-13026-2
PMCID: PMC9174483

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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