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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.

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 2023

Development of Dual gRNAs-mediated Exon-Skipping Strategy for the Treatment of USH2A associated disorders

Yue Dai; Eric A Pierce; Qin Liu

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3788.

ARVO Annual Meeting Abstract June 2023

Safety and Efficacy of EDIT-101 for Treatment of CEP290 -associated Retinal Degeneration

Eric A Pierce; Tomas S Aleman; Bright Ashimatey; Keunpyo Kim; Rashid Rashid; Rene Myers; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3785.

ARVO Annual Meeting Abstract June 2023

Twelve-month Natural History Study of CEP290- associated Retinal Degeneration

Bright Senyo Ashimatey; K. Thiran Jayasundera; Eric A Pierce; Carel C B Hoyng; Byron L Lam; Marc Dellacanonica; Keunpyo Kim; Rashid Rashid; Rene Myers; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3679.

ARVO Annual Meeting Abstract June 2023

Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease

Carol Weigel DiFranco; Jason Comander; Kit Green Sanderson; Emily Place; Matthew Maher; Erin Zampaglione; Yan Zhao; Rachel M Huckfeldt; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4446.

ARVO Annual Meeting Abstract June 2022

Investigating the role of mutational load and cis modifiers of disease severity in RHO P23H autosomal dominant Retinitis Pigmentosa

Riccardo Sangermano; Egle Galdikaite-Braziene; Erin Zampaglione; Eric A Pierce; Ayellet V. Segrè; Jason Comander; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1594 – A0383.

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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

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

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

Development of Dual gRNAs-mediated Exon-Skipping Strategy for the Treatment of USH2A associated disorders

Safety and Efficacy of EDIT-101 for Treatment of CEP290 -associated Retinal Degeneration

Twelve-month Natural History Study of CEP290- associated Retinal Degeneration

Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease

Investigating the role of mutational load and cis modifiers of disease severity in RHO P23H autosomal dominant Retinitis Pigmentosa

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