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Article

Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes.

Scientific reports - 1 Jun 2017

Movaghar Arezoo, Mailick Marsha, Sterling Audra, Greenberg Jan, Saha Krishanu

Abstract excerpt

Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed. Despite the high prevalence of the FX premutation and its effect on public health and family planning, most FX premutation carriers are unaware of their condition. Since genetic testing...

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Identifiers

PMID: 28572606
DOI: 10.1038/s41598-017-02682-4
PMCID: PMC5454004

Genes

FMR1

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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