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Article

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Human mutation - 1 May 2018

Paff Tamara, Kooi Irsan E, Moutaouakil Youssef, Riesebos Elise, Sistermans Erik A, Daniels Hans J M A, Weiss Janneke M M, Niessen Hans H W M, Haarman Eric G, Pals Gerard, Micha Dimitra

Abstract excerpt

We aimed to determine the diagnostic yield of a targeted-exome panel in a cohort of 74 Dutch primary ciliary dyskinesia (PCD) patients. The panel consisted of 26 PCD-related and 284 candidate genes. To prioritize PCD candidate genes, we investigated the transcriptome of human airway cells of 12 healthy volunteers during in vitro ciliogenesis and hypothesized that PCD-related genes show significant upregulation....

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Source

Identifiers

PMID: 29363216
DOI: 10.1002/humu.23403

Genes

DNAJB13
HYDIN
NME8

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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