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Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Genes - 11 Jan 2023

Mc Clinton Benjamin, Corradi Zelia, McKibbin Martin, Panneman Daan M, Roosing Susanne, Boonen Erica G M, Ali Manir, Watson Christopher M, Steel David H, Cremers Frans P M, Inglehearn Chris F, Hitti-Malin Rebekkah J, Toomes Carmel

Abstract excerpt

Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in identifying genetic variants causing macular dystrophy. Here, a previously established smMIPs panel tailored for genes associated with macular diseases has been used to...

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Identifiers

PMID: 36672932
DOI: 10.3390/genes14010191
PMCID: PMC9859292

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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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