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Article

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.

The Journal of clinical endocrinology and metabolism - 16 Oct 2025

McGlacken-Byrne Sinéad M, Suntharalingham Jenifer P, Ishida Miho, Buonocore Federica, Del Valle Ignacio, Cameron-Pimblett Antoinette, Dattani Mehul T, Achermann John C, Conway Gerard S

Abstract excerpt

CONTEXT: Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, <25 years) is important, but defining variant pathogenicity is challenging. OBJECTIVE: We aimed to elucidate the genetic architecture of EO-POI in a unique, large cohort. Young women with EO-POI (n = 149; n = 31 familial, n = 118 sporadic) attending a specialist reproductive unit were included. Exome sequencing was...

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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: 39999035
DOI: 10.1210/clinem/dgaf124
PMCID: PMC12527457

Genes

ARRB1
CLPP
IGSF10
MCM9
MMS22L
MSH6
NLRP11
PCIF1
PDE3A
PLEC
POLR2C
POLR2H
PRKD1
PSMC3IP
RXFP3
STAG3
YTHDC2
ZSWIM7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.PMID 39999035Read ↗

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