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Article

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

PloS one - 1 Jan 2014

Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Manir

Abstract excerpt

PURPOSE: Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic cou...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25133751
DOI: 10.1371/journal.pone.0104281
PMCID: PMC4136783

Genes

ABCA4
BBS2
CRB1
PROM1
RDH12
RPGRIP1
SPATA7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25133751-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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