An AugmentedABCA4Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Analysis of the ABCA4 genomic locus in Stargardt disease

(2014) Jana Zernant et al.   HUMAN MOLECULAR GENETICS

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

(2013) Terry A. Braun et al.   HUMAN MOLECULAR GENETICS

Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing

(2012) K. H. Lim et al.   BIOINFORMATICS

Molecular diagnosis of putative Stargardt disease probands by exome sequencing

(2012) Samuel P Strom et al.   BMC Medical Genetics

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE