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ARVO Annual Meeting Abstract June 2025

Functional analysis of deep intronic variants using a saturation mutagenesis approach in a multiplexed splicing assay identified a novel cryptic exon in intron 13 of ABCA4

Eric A Pierce; Kevin Valestil; Marianna Weener; Sudeep Mehrotra; Kinga Maria Bujakowska; Hilary Scott

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6287.

ARVO Annual Meeting Abstract June 2025

Reducing Oxidative DNA Damage Preserves Photoreceptors in a Mouse Model of Nmnat1 -Associated Retinal Degeneration

Hanmeng Zhang; Kevin Valestil; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1222.

ARVO Annual Meeting Abstract June 2023

Development of a High Throughput Assay

Hilary Scott; Emily Place; Evelyn Harper; Kevin Valestil; Sudeep Mehrotra; Rachel M Huckfeldt; Jason Comander; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4521.

ARVO Annual Meeting Abstract June 2023

Functional evaluation of rare deep intronic variants in patients with elusive genetic causality of inherited retinal degenerations

Marianna Weener; Hilary Scott; Emily Place; Kit Sanderson; Kevin Valestil; Juerg Straubhaar; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4527.

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