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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

Identification of downstream RUNX1 targets via enrichment analysis of pathways associated with angiogenic eye disease

Audrey Gunawan; William Phillip Miller; Sudeep Mehrotra; Ayellet Segré; Michael O'Hare; Leo A Kim

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):4858.

ARVO Annual Meeting Abstract June 2025

Validation of an unbiased metagenomic sequencing approach for diagnosis of infectious uveitis

Sudeep Mehrotra; Vridhi Vinaykiya; Eduardo Ferracioli-Oda3; Joyce H Yamamoto; Lucia Sobrin; Paulo J.M. Bispo

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1363.

ARVO Annual Meeting Abstract June 2025

CRISPR-activation (CRISPR-a) and CRISPR-interference (CRISPRi) genome perturbation for studies of RPE function in ARPE-19-derived RPE (ARPE-19-RPE)

Rodrigo Cerna-Chavez; Riccardo Sangermano; Sudeep Mehrotra; Vridhi Vinaykiya; Kinga Maria Bujakowska; Marcela Garita-Hernandez; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):2500.

ARVO Annual Meeting Abstract June 2025

Sex bias in retinal gene expression, regulation and disease

Ting-Yi Lin; Jayshree Advani; Milton English; Sudeep Mehrotra; Puja Mehta; Yuyang Luo; Deborah A Ferrington; Ayellet Vered Segre; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3997.

ARVO Annual Meeting Abstract June 2025

Dynamic Approach to Reconstruct Microbial Genomes from Metagenomic Datasets of Uveitis Samples.

Vridhi Vinaykiya; Sudeep Mehrotra; Lucia Sobrin; Paulo J.M. Bispo

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3521.

ARVO Annual Meeting Abstract June 2024

Genetic and Epigenetic Insights into the Aging of the Human Retina

Ting-Yi Lin; Jayshree Advani; Sudeep Mehrotra; Milton English; Deborah A Ferrington; Ayellet Segre; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3317.

ARVO Annual Meeting Abstract June 2024

Genetic regulation of splicing in human retina highlights the visual cycle as an emerging pathway in age-related macular degeneration (AMD)

Puja Mehta; John M Rouhana; Andrew R Hamel; Sudeep Mehrotra; Jayshree Advani; Milton English; Deborah A Ferrington; Anand Swaroop; Ayellet Segre

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):641.

ARVO Annual Meeting Abstract June 2024

Identification and characterization of alternative splicing events in human macula and peripheral retina

Sudeep Mehrotra; Puja A, Mehta; Jayshree Advani; Deborah A Ferrington; Anand Swaroop; Ayellet Segre

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):634.

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 2024

Identification of novel RUNX1-associated downstream targets by transcriptomics analysis.

Audrey L. Gunawan; William Phillip Miller; Sudeep Mehrotra; Ayellet Segre; Michael O'Hare; Leo A Kim

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4445.

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

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 2023

In vivo CRISPR-KO screens for the study of photoreceptor essential genes and retinal disease modifiers

Riccardo Sangermano; Egle Galdikaite-Braziene; Sudeep Mehrotra; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):747.

ARVO Annual Meeting Abstract June 2023

Identification of novel genes and isoforms expressed in human retina and retinal pigment epithelium using the new T2T-CHM13 human genome assembly

Sudeep Mehrotra; Ayellet V. Segre; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1856.

ARVO Annual Meeting Abstract June 2021

Time Series Data Analysis of Gene Expression with Age in Mouse Retinal Pigment Epithelium

Sudeep Mehrotra; Gopalan Gnanaguru; Patricia A D'Amore; Ayellet V Segre

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3114.

ARVO Annual Meeting Abstract June 2021

NMNAT1 -Associated Retinal Degeneration: Consequences of Reduced Nuclear NAD + Production

Emily Brown; Michael Scandura; Sudeep Mehrotra; Scott H Greenwald; Daniela Pignatta; Jianhai Du; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3060.

ARVO Annual Meeting Abstract July 2019

Evaluating methods for differential gene expression and alternative splicing using internal synthetic controls

Sudeep Mehrotra; Revital Bronstein; Daniel Navarro-Gomez; Ayellet Segre; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3437.

ARVO Annual Meeting Abstract July 2019

Mutations in splicing factors that cause Retinitis Pigmentosa (RP) do not affect splicing in a global manner

Revital Bronstein; Sudeep Mehrotra; Elizabeth E. Capowski; Leah Foltz; Michael H Farkas; David M Gamm; Dennis O Clegg; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):379.

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