Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known
to display both clinical and genetic heterogeneity. A further complexity is that for several IRD …

Conventional gene therapy involving supplementation only treats loss-of-function diseases
and is limited by viral packaging sizes, precluding therapy of large genes. The discovery of …

Background Large genomic databases enable genetic evaluation in terms of
haploinsufficiency and prevalence of missense and synonymous variants. We explored …

Intrinsically disordered regions (IDRs) are protein regions that are unable to fold into stable
tertiary structures, enabling their involvement in key signaling and regulatory functions via …

Inherited retinal diseases (IRDs) are a significant contributor to visual loss in children and
young adults, falling second only to diabetic retinopathy. Understanding the pathogenic …

Methods The study combined next-generation sequencing, real-time PCR (qPCR), and
chromosomal microarray to identify, validate, and delineate the causative copy number …