Health-related conditions often differ qualitatively or quantitatively between individuals of
different birth-assigned sexes and gender identities, and/or with different gendered …

DNA and RNA can adopt various secondary structures. Four-stranded G-quadruplex (G4)
structures form through self-recognition of guanines into stacked tetrads, and considerable …

Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …

Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …

Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a
worldwide prevalence of about 1%, characterized by impairments in social interaction …

Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …