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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 IDH3G , ENCODING THE GAMMA SUBUNIT OF MITOCHONDRIAL ISOCITRATE DEHYDROGENASE, AS A NOVEL CANDIDATE GENE FOR X-LINKED RETINITIS PIGMENTOSA

Lorenzo Bianco; Julien Navarro; Christelle Michiels; Riccardo Sangermano; Christel Condroyer; Aline Antonio; Alessio Antropoli; Andrieu Camille; Emily Place; Eric A Pierce; Said El Shamieh; Vasily Smirnov; Vasiliki Kalatzis; Luke Mansard; Anne-Françoise Roux; Beatrice Bocquet; José-Alain Sahel; Isabelle Meunier; Kinga Maria Bujakowska; Isabelle Audo; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6053.

ARVO Annual Meeting Abstract June 2025

Leveraging Structure-Based Network Analysis to Identify Putative Causative Variants of Inherited Retinal Disease

Blake M. Hauser; Yuyang Luo; Aamilah Chowdhury; Anusha Nathan; Ahmad al-Moujahed; Demetrios Vavvas; Jason Comander; Eric A Pierce; Emily Place; Kinga Maria Bujakowska; Gaurav D. Gaiha; Elizabeth J Rossin

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1344.

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 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

Structural variant calling with GATK-SV finds hidden complex structural variants in unresolved inherited retinal diseases

Jinu Han; Riccardo Sangermano; Marianna Weener; Emily Place; Dongheon Surl; Junwon Lee; Ikhyun Jun; Yong Joon Kim; Samuel Ungsoo Kim; Christopher Seungkyu Lee; Sung Soo Kim; Suk Ho Byeon; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1922.

ARVO Annual Meeting Abstract June 2025

Usher Syndrome Type 3A Secondary to a Recurrent CLRN1 Variant from Cape Verde.

Kirill Zaslavsky; Hueyjong Shih; Ahmad al-Moujahed; Emily Place; Eric A Pierce; Jason Comander; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3133.

ARVO Annual Meeting Abstract June 2024

Structure-based network analysis identifies pathogenic variants in patients with inherited retinal disease

Blake M. Hauser; Yuyang Luo; Anusha Nathan; Demetrios Vavvas; Jason Comander; Eric A Pierce; Emily Place; Kinga Maria Bujakowska; Gaurav D Gaiha; Elizabeth J Rossin

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6029.

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

Functional Phenotyping of Mouse Mutants Reveals Novel Genes that Impact the Mammalian Outer Retina

Neal S Peachey; Janine M Wotton; Patsy M Nishina; Jessica Wong; Eric A Pierce; Emily Place; Riccardo Sangermano; Kinga Maria Bujakowska; Mark P Krebs; Jacqueline K White

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1531.

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

Investigating Elusive Genetic Causality in Inherited Retinal Degeneration Cases

Cherrell Price; Riccardo Sangermano; Emily Place; Kaitlin O'Connell; Rachel M Huckfeldt; Jason Comander; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5290.

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

Assessment of clinical features and extraretinal manifestations of PRPF8 -associated retinitis pigmentosa

Priya Gupta; Emily Place; Netra Bellur-Modur; Jason Comander; Eric A Pierce; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5442.

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

Systematic approach to analyzing protein structure predicts mutations associated with inherited retinal disease

Blake M. Hauser; Yuyang Luo; Anusha Nathan; James Chodosh; Lucia Sobrin; Eric A Pierce; Bruce Walker; Gaurav Gaiha; Elizabeth Rossin

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3267.

ARVO Annual Meeting Abstract June 2023

Base editing approach for in vitro and in vivo evaluation of therapeutic targets in USH2A

Kannan Vrindavan Manian; Yuki Tachida; Erin Hennessey; Rossano Butcher; Eric A Pierce; David R Liu; Qin Liu; Jason Comander

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1912.

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

Optimized prime editing efficiently generates mutations in hiPSCs to model inherited retinal degeneration

Marcela Garita-Hernandez; Mohammed Zeaiter; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):750.

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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

IDENTIFICATION OF IDH3G , ENCODING THE GAMMA SUBUNIT OF MITOCHONDRIAL ISOCITRATE DEHYDROGENASE, AS A NOVEL CANDIDATE GENE FOR X-LINKED RETINITIS PIGMENTOSA

Leveraging Structure-Based Network Analysis to Identify Putative Causative Variants of Inherited Retinal Disease

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

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

Structural variant calling with GATK-SV finds hidden complex structural variants in unresolved inherited retinal diseases

Usher Syndrome Type 3A Secondary to a Recurrent CLRN1 Variant from Cape Verde.

Structure-based network analysis identifies pathogenic variants in patients with inherited retinal disease

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

Functional Phenotyping of Mouse Mutants Reveals Novel Genes that Impact the Mammalian Outer Retina

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

Investigating Elusive Genetic Causality in Inherited Retinal Degeneration Cases

Development of a High Throughput Assay

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

Assessment of clinical features and extraretinal manifestations of PRPF8 -associated retinitis pigmentosa

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

Systematic approach to analyzing protein structure predicts mutations associated with inherited retinal disease

Base editing approach for in vitro and in vivo evaluation of therapeutic targets in USH2A

Investigating genetic causality with a high throughput splicing assay

Optimized prime editing efficiently generates mutations in hiPSCs to model inherited retinal degeneration

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