Short read massive parallel sequencing has emerged as a standard diagnostic tool in the
medical setting. However, short read technologies have inherent limitations such as GC …

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and
the leading form of the monogenic cause of autism. Fragile X mental retardation type 1 …

Fragile X‐associated disorders are a family of genetic conditions resulting from the partial or
complete loss of fragile X mental retardation protein (FMRP). Among these disorders is …

A significant portion of genes in vertebrate genomes belongs to multigene families, with
each family containing several gene copies whose presence/absence, as well as isoform …

Fragile X syndrome (FXS), a neurodevelopmental disorder with no known cure, is caused by
a lack of expression of the fragile X mental retardation protein (FMRP). As a single-gene …

Carriers of a premutation allele (PM) in the FMR1 gene are at risk of developing a number of
Fragile X premutation asssociated disorders (FXPAC), including Fragile X-associated …

Long-read sequencing (LRS) technologies have been recently introduced to overcome
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …

There is increasing recognition of the heterogeneity of origin of cases of autism spectrum
disorder (ASD) with multiple forms of ASD having been identified over the decades. Among …

Viral vector-mediated gene therapy has grown by leaps and bounds over the past several
years. Although the reasons for this progress are varied, a deeper understanding of the …

Human patient-derived induced pluripotent stem cells (hiPSCs) provide unique
opportunities for disease modeling and drug development. However, adapting hiPSCs or …