Last Posted: May 06, 2021
- The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher Pia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
- Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
EG Allen et al, Genetics in Medicine, April 29, 2021
- Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Movaghar Arezoo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
- Clinical Characteristics of Fragile X Syndrome Patients in Japan.
Okazaki Tetsuya et al. Yonago acta medica 2021 64(1) 30-33
- Surveillance and prevalence of fragile X syndrome in Indonesia.
Sihombing Nydia Rena Benita et al. Intractable & rare diseases research 2021 10(1) 11-16
- Now Open for Applications for CDC Funding Opportunity: Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention Outcome Measures
- Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.
Boardman Felicity K et al. Journal of genetic counseling 2020 Nov
- Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.
Wotton Tiffany et al. International journal of neonatal screening 2018 Mar 4(1) 9
- A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Budimirovic Dejan B et al. Brain sciences 2020 Sep 10(10)
- Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders.
Gürkan Hakan et al. Noro psikiyatri arsivi 2020 Sep 57(3) 177-191
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.