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Molecular Genetics & Genomic Medicine|July 7, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defectDi Huang, Jennifer A Thompson, Jason Charng, et al.Experimental Eye Research|October 9, 2022
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblastsDi Huang, Jennifer A Thompson, Shang-Chih Chen, et al.Pageof 2