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Article

Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data.

BMC genomics - 18 Apr 2023

Ruiz-Ceja Karla Alejandra, Capasso Dalila, Pinelli Michele, Del Prete Eugenio, Carrella Diego, di Bernardo Diego, Banfi Sandro

Abstract excerpt

BACKGROUND: Inherited retinal diseases (IRD) are genetically heterogeneous disorders that cause the dysfunction or loss of photoreceptor cells and ultimately lead to blindness. To date, next-generation sequencing procedures fail to detect pathogenic sequence variants in coding regions of known IRD disease genes in about 30-40% of patients. One of the possible explanations for this missing heritability is the...

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PMID: 37072692
DOI: 10.1186/s12864-023-09300-w
PMCID: PMC10111803

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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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