Mubeen Khan

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

D. Sharon, C. Hoyng, R. Allikmets, 2023, HGG advances.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

F. Cremers, S. Roosing, C. Ayuso, 2019, Human mutation.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

A. Maver, M. Hawlina, A. Meglič, 2023, Investigative ophthalmology & visual science.