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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

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

Evaluation of Therapeutic Potential of Human EYS Midigenes in eys Knock-Out Zebrafish Model

Egle Galdikaite-Braziene; Anna Larson; Cherrell Price; Shi Song Rong; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2224.

ARVO Annual Meeting Abstract June 2024

Investigating genetic causality with a high throughput splicing assay

Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3894.

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

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Samantha Malka; Siying Lin; Elena Schiff; Genevieve Wright; Michel Michaelides; Omar Abdul Rahman Mahroo; Jessica Gardner; Alison J Hardcastle; Anne Marie Berry; Riccardo Sangermano; Carlo Rivolta; Mathieu Quinodoz; Kinga Maria Bujakowska; Radha Ayyagari; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4663.

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 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

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 2023

Characterization of EYS in human iPSC-derived Retinal Organoids

Egle Galdikaite-Braziene; Julio Cesar Corral Serrano; Marcela Garita-Hernandez; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3186.

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 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.

ARVO Annual Meeting Abstract June 2022

Genotype-phenotype correlation and disease modeling in RPGR -related cone and cone-rod dystrophies.

Marco Nassisi; Giuseppe De Bartolo; Saddek Mohand-Said; Christel Condroyer; Aline Antonio; Marie-Elise Lancelot; Kinga Maria Bujakowska; Vasily M. SMIRNOV; Thomas Pugliese; John Neidhardt; Jose Alain Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):138 – A0318.

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.

ARVO Annual Meeting Abstract June 2022

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

Lori S Sullivan; Elizabeth Cadena; Sara Bowne; Kinga Maria Bujakowska; Egle Galdikaite-Braziene; Emily Place; Eric A Pierce; Radha Ayyagari; Daniel Koboldt; David G Birch; Kaylie Jones; Kari Branham; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4120 – F0357.

ARVO Annual Meeting Abstract July 2018

Gene augmentation therapy delays NMNAT1 -associated retinal degeneration in a mouse model

Scott H Greenwald; Raymond Farmer; Erin Hennessey; Kinga Maria Bujakowska; Ru Xiao; Luk Vandenberghe; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4529.

ARVO Annual Meeting Abstract July 2018

Functional annotation of glaucoma-associated ATXN2 variants using zebrafish

Shi Song Rong; Louis R. Pasquale; Anna Larson; Kinga Maria Bujakowska; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5157.

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

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

Evaluation of Therapeutic Potential of Human EYS Midigenes in eys Knock-Out Zebrafish Model

Investigating genetic causality with a high throughput splicing assay

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

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Investigating Elusive Genetic Causality in Inherited Retinal Degeneration Cases

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Investigating genetic causality with a high throughput splicing assay

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

Characterization of EYS in human iPSC-derived Retinal Organoids

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

Development of a High Throughput Assay

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

Genotype-phenotype correlation and disease modeling in RPGR -related cone and cone-rod dystrophies.

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

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

Gene augmentation therapy delays NMNAT1 -associated retinal degeneration in a mouse model

Functional annotation of glaucoma-associated ATXN2 variants using zebrafish

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