Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Cortical/cerebral visual impairment (CVI) is the most frequent cause of pediatric visual
impairment in developed countries and is increasing in prevalence in developing nations …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical
genetic assessments, but there are limited data regarding its clinical use. We previously …

Epigenetic variation in peripheral tissues is being widely studied as a molecular biomarker
of complex disease and disease-related exposures. To date, few studies have examined …

While dysregulation of RNA splicing has been recognized as an emerging target for cancer
therapy, the functional significance of RNA splicing and individual splicing factors in brain …

Stem cells regulate their self-renewal and differentiation fate outcomes through both
symmetric and asymmetric divisions. m 6 A RNA methylation controls symmetric commitment …

Nuclear speckles are small, membrane-less organelles that reside within the nucleus.
Nuclear speckles serve as a regulatory hub coordinating complex RNA metabolism steps …

Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian
forms of syndromic CS are well described, but a genetic etiology remains elusive in a …

Congenital hearing impairment (HI) is the most common sensory impairment and can be
isolated or part of a syndrome. Diagnosis through newborn hearing screening and …