Fragile X Syndrome
What's New
Last Posted: Nov 24, 2020
- Now Open for Applications: Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention Outcome Measures
- Now Open for Applications for CDC Funding Opportunity: Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention Outcome Measures
- 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 - EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Carroll Renee et al. European journal of medical genetics 2020 Jul 104010 - Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.
Borch Lauren A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar - Challenges in molecular diagnosis of X-linked Intellectual disability.
De Luca Chiara et al. British medical bulletin 2020 Feb - Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano María Jimena et al. Gaceta medica de Mexico 2020 156(1) 60-66 - Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee Stacey et al. The Journal of molecular diagnostics : JMD 2019 Dec - Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.
Johansen Taber Katherine et al. Molecular genetics & genomic medicine 2019 Nov e1024 - Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich Arnold et al. Molecular autism 2019 1033
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
- CDC Information (11)
- NIH Information (6)
- COVID-19 (2)
- CDC Publications (5)
- Human Genome Epidemiologic Studies (103)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (66)
- Genomic Tests Evidence Synthesis (6)
- Genomic Tests Guidelines (4)
- Tier-Classified Guidelines (2)
- State Public Health Genomics Programs (2)
- Reviews/Commentaries (37)
- Ethical/Legal and Social Issues (ELSI) (2)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public 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.
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 23, 2021
- Content source: