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Article

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2019

Jamshidi Farzad, Place Emily M, Mehrotra Sudeep, Navarro-Gomez Daniel, Maher Mathew, Branham Kari E, Valkanas Elise, Cherry Timothy J, Lek Monkol, MacArthur Daniel, Pierce Eric A, Bujakowska Kinga M

Abstract excerpt

PURPOSE: With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical decision-making. Yet the genetic cause of disease cannot be identified using exon-based sequencing for a significant portion of patients. We hypothesized that noncoding pathogenic variants contribute significantly to the genetic causality of IRDs and evaluated...

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Source

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Identifiers

PMID: 30072743
DOI: 10.1038/s41436-018-0104-7
PMCID: PMC6399075

Genes

RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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