The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …

Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …

Purpose Using exome sequencing, the underlying variants in many persons with autosomal
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …

Purpose ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large
proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing …

ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …

Genome-editing technologies have ushered in a new era in gene therapy, providing novel
therapeutic strategies for a wide range of diseases, including both genetic and nongenetic …

Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger
RNA splicing. Though genetic variants in the canonical splice motifs are almost always …

Sequence analysis of the coding regions and splice site sequences in inherited retinal
diseases is not able to uncover∼ 40% of the causal variants. Whole-genome sequencing …

Recurrence risk calculations in autosomal recessive diseases are complicated when the
effect of genetic variants and their population frequencies and penetrances are unknown. An …

Purpose Missing heritability in human diseases represents a major challenge, and this is
particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate …