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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 4 of 4 1 Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes Movaghar, Arezoo; Mailick, Marsha; Sterling, Audra; Greenberg, Jan; Saha, Krishanu. - : Nature Publishing Group UK, 2017 Abstract: 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 for the premutation is resource intensive, it is not practical to screen individuals for FX premutation status using genetic testing. In a novel approach to phenotyping, we have utilized audio recordings and cognitive profiling assessed via self-administered questionnaires on 200 females. Machine-learning methods were developed to discriminate FX premutation carriers from mothers of children with autism spectrum disorders, the comparison group. By using a random forest classifier, FX premutation carriers could be identified in an automated fashion with high precision and recall (0.81 F1 score). Linguistic and cognitive phenotypes that were highly associated with FX premutation carriers were high language dysfluency, poor ability to organize material, and low self-monitoring. Our framework sets the foundation for computational phenotyping strategies to pre-screen large populations for this genetic variant with nominal costs. Keyword: Article URL: http://www.ncbi.nlm.nih.gov/pubmed/28572606 https://doi.org/10.1038/s41598-017-02682-4 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454004/ BASE Hide details 2 Language dysfluencies in females with the FMR1 premutation Sterling, Audra M.; Mailick, Marsha; Greenberg, Jan... In: Brain and cognition. - San Diego, Calif. [u.a.] : Elsevier Science 82 (2013) 1, 84-89 OLC Linguistik Show details 3 Language Dysfluencies in Females with the FMR1 Premutation Sterling, Audra M.; Mailick, Marsha; Greenberg, Jan. - 2013 BASE Show details 4 Profiles and Perspectives - Art, Biography, and Collaboration: Creating Books about Art and Artists Greenberg, Jan; Jordan, Sandra In: Language arts. - Urbana, Ill. : Council 85 (2008) 6, 459-463 OLC Linguistik Show details

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