Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes

A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops

A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression

Characterization of a novel AEL allele harboring a c.28 + 5G>A mutation on the ABO*A2.01 background: a study utilizing PacBio third-generation sequencing and functional assays

De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by afecting pre-mRNA splicing

ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype

Functional Characterization of Splice Variants in the Diagnosis of Albinism

Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway

Copy number variant analysis for syndromic congenital heart disease in the Chinese population