Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative
disorder that affects some but not all carriers of small, noncoding CGG‐repeat expansions …

Background Population screening for FMR1 mutations has been a topic of considerable
discussion since the FMR1 gene was identified in 1991. Advances in understanding the …

Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the
most common single-gene cause of autism. It is caused by mutations on the fragile X mental …

BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most
biological mothers, and often multiple other family members of children with fragile X …

Hypertrophic cardiomyopathy (HCM) is the most common monogenic genetic cardiac
disease, with an estimated prevalence of 1: 500 in the general population. Clinically, HCM is …

BACKGROUND: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest
the possibility of newborn screening as a way to identify children earlier. However, FXS does …

Cascade genetic testing is the identification of individuals at risk for a hereditary condition by
genetic testing in relatives of people known to possess particular genetic variants. Cascade …

Objective The objective of this study was to explore the clinical utility of the implementation
of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials …

Abstract Background Fragile X syndrome (FXS) results from a trinucleotide repeat expansion
(full mutation> 200 cytosine-guanine-guanine (CGG) repeats) in the FMR1 gene, leading to …