Expanding the phenotypic spectrum in RDH12-associated retinal diseaseHilary Scott, Kinga M. Bujakowska, Stephanie DiTroia et al.|Molecular Case Studies|2020Cited by 31
A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusionHilary Scott, Kinga M. Bujakowska, Emily Place et al.|medRxiv|2022Cited by 8
A Hidden Structural Variation in a Known IRD Gene: A Cautionary Tale of Two New Disease Candidate GenesHilary Scott, Kinga M. Bujakowska, Eric A. Pierce et al.|medRxiv|2021Cited by 1