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Article

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

American journal of human genetics - 5 Oct 2012

Horani Amjad, Druley Todd E, Zariwala Maimoona A, Patel Anand C, Levinson Benjamin T, Van Arendonk Laura G, Thornton Katherine C, Giacalone Joe C, Albee Alison J, Wilson Kate S, Turner Emily H, Nickerson Deborah A, Shendure Jay, Bayly Philip V, Leigh Margaret W, Knowles Michael R, Brody Steven L, Dutcher Susan K, Ferkol Thomas W

Abstract excerpt

Motile cilia are essential components of the mucociliary escalator and are central to respiratory-tract host defenses. Abnormalities in these evolutionarily conserved organelles cause primary ciliary dyskinesia (PCD). Despite recent strides characterizing the ciliome and sensory ciliopathies through exploration of the phenotype-genotype associations in model organisms, the genetic bases of most cases of PCD...

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Identifiers

PMID: 23040496
DOI: 10.1016/j.ajhg.2012.08.022
PMCID: PMC3484505

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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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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.PMID 23040496Read ↗

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