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Article

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

Fertility and sterility - 1 Aug 2015

Ramasamy Ranjith, Bakırcıoğlu M Emre, Cengiz Cenk, Karaca Ender, Scovell Jason, Jhangiani Shalini N, Akdemir Zeynep C, Bainbridge Matthew, Yu Yao, Huff Chad, Gibbs Richard A, Lupski James R, Lamb Dolores J

Abstract excerpt

OBJECTIVE: To investigate the genetic cause of nonobstructive azoospermia (NOA) in a consanguineous Turkish family through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations. DESIGN: Whole-exome sequencing (WES). SETTING: Research laboratory. PATIENT(S): Two siblings in a consanguineous family with NOA. INTERVENTION(S): Validating all variants passing filter...

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Identifiers

PMID: 25956372
DOI: 10.1016/j.fertnstert.2015.04.001
PMCID: PMC4522373

Genes

NPAS2

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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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