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Article

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Human genetics - 1 Dec 2021

Perea-Romero I, Blanco-Kelly F, Sanchez-Navarro I, Lorda-Sanchez I, Tahsin-Swafiri S, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas M J, Lopez-Rodriguez R, Rodriguez de Alba M, Iancu I F, Romero R, Quinodoz M, Hakonarson H, Garcia-Sandova Blanca, Minguez P, Corton M, Rivolta C, Ayuso C

Abstract excerpt

Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis, by applying a structured phenotypic ontology and next-generation sequencing (NGS)-based pipelines. A prospective and retrospective cohort study was performed on 100 probands with an a priori...

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Identifiers

PMID: 34448047
DOI: 10.1007/s00439-021-02343-7
PMCID: PMC8553673

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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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