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Article

Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.

Human molecular genetics - 6 Aug 2024

Burnight Erin R, Fenner Beau J, Han Ian C, DeLuca Adam P, Whitmore S Scott, Bohrer Laura R, Andorf Jeaneen L, Sohn Elliott H, Mullins Robert F, Tucker Budd A, Stone Edwin M

Abstract excerpt

Mutations in ABCA4 are the most common cause of Mendelian retinal disease. Clinical evaluation of this gene is challenging because of its extreme allelic diversity, the large fraction of non-exomic mutations, and the wide range of associated disease. We used patient-derived retinal organoids as well as DNA samples and clinical data from a large cohort of patients with ABCA4-associated retinal disease to...

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Identifiers

PMID: 37930186
DOI: 10.1093/hmg/ddad176
PMCID: PMC11305681

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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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