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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 2024

Deep mutational scanning reveals the pathogenicity and structural constraints of a comprehensive set of rhodopsin missense variants

Kannan Vrindavan Manian; Erin Hennessey; Ha Eun; Hilary Scott; Xiaoping Yang; David E Root; Eric A Pierce; Jason Comander

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):457.

ARVO Annual Meeting Abstract June 2024

Combination of digital and experimental tools to enhance bulk deep intronic variants pathogenicity prediction to better diagnose inherited retinal disorders (IRDs)

Marianna Weener; Emily Place; Juerg Straubhaar; Hilary Scott; Sudeep Mehrotra; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4940.

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

Evidence of Imbalanced Genotoxic Stress and DNA Damage Response in Photoreceptors via Single-Nuclei RNA Sequencing in NMNAT1 -Associated Retinal Degeneration

Hanmeng Zhang; Sudeep Mehrotra; Hilary Scott; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4501.

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.

ARVO Annual Meeting Abstract June 2023

Investigating genetic causality with a high throughput splicing assay

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

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):493.

ARVO Annual Meeting Abstract June 2020

Duped by a duplication: Heterozygous duplication in PRPF31 causes Retinitis pigmentosa in elusive gene family

Hilary Scott; Anna Larson; Katherine R Chao; Stephanie P DiTroia; Rossano Butcher; Emily Place; Eric A Pierce; Kinga Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4468.

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