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Article

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Molecular genetics & genomic medicine - 1 Feb 2020

Yohe Sophia, Sivasankar Malaichamy, Ghosh Anuprita, Ghosh Arkasubhra, Holle Jennifer, Murugan Sakthivel, Gupta Ravi, Schimmenti Lisa A, Vedam Ramprasad, Thyagarajan Bharat

Abstract excerpt

BACKGROUND: Studies evaluating next-generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India). METHODS: This retrospective study of 131 patients who underwent clinically validated targeted NGS or exome sequencing for a wide variety of clinical phenotypes categorized...

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Identifiers

PMID: 31816670
DOI: 10.1002/mgg3.1081
PMCID: PMC7005662

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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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