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Article

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Aug 2013

Wells Quinn S, Becker Jason R, Su Yan R, Mosley Jonathan D, Weeke Peter, D'Aoust Laura, Ausborn Natalie L, Ramirez Andrea H, Pfotenhauer Jean P, Naftilan Allen J, Markham Larry, Exil Vernat, Roden Dan M, Hong Charles C

Abstract excerpt

BACKGROUND: Whole exome sequencing is a powerful technique for Mendelian disease gene discovery. However, variant prioritization remains a challenge. We applied whole exome sequencing to identify the causal variant in a large family with familial dilated cardiomyopathy of unknown pathogenesis. METHODS AND RESULTS: A large family with autosomal dominant, familial dilated cardiomyopathy was identified. Exome...

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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: 23861363
DOI: 10.1161/CIRCGENETICS.113.000011
PMCID: PMC3895490

Genes

RBM20

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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