Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …

Retinitis pigmentosa (RP) is genetically heterogeneous retinopathy caused by
photoreceptor cell death and retinal pigment epithelial atrophy that eventually results in …

Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked
clinical and genetic heterogeneity. Common presentations among these disorders include …

ABSTRACT A majority of human genes contain non-coding intervening sequences–introns
that must be precisely excised from the pre-mRNA molecule. This event requires the …

Members of a paralogous gene family in which variation in one gene is known to cause
disease are eight times more likely to also be associated with human disease. Recent …

Next-generation sequencing has revolutionized rare disease diagnostics, but many patients
remain without a molecular diagnosis, particularly because many candidate variants usually …

Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000–8000
individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is …

Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied
populations: Mexico and Pakistan as well as a third well-studied population of European …

Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex
consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and …

Mutations in genes encoding centriolar or ciliary proteins cause diseases collectively known
as 'ciliopathies'. Interestingly, the Human Phenotype Ontology database lists numerous …