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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.

Genetics October 2018

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

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Rola Ba-Abbad; Monique Leys; Xinjing Wang; Christina Chakarova; Naushin Waseem; Keren J. Carss; F. Lucy Raymond; Kinga M. Bujakowska; Eric A. Pierce; Omar A. Mahroo; Moin D. Mohamed; Graham E. Holder; Marybeth Hummel; Gavin Arno; Andrew R. Webster
TAGS: alleles, genes, retinal diseases, signs and symptoms, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4812-4820. https://doi.org/10.1167/iovs.18-25061

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly

Stephen P Daiger; Lori S Sullivan; Sara J Bowne; Elizabeth L Cadena; Kinga Maria Bujakowska; Eric A Pierce; Michael B Gorin; Xénia Latypova; Erica E Davis; Nicholas Katsanis; Ludovic Martin; Laurence Legeai-Mallet; Benjamin Cogne; Stéphane Bezieau; Thomas Besnard; Bertrand Isidor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):47.

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.

ARVO Annual Meeting Abstract July 2018

Structural and splicing RPGRIP1 mutations in inherited retinal degenerations

Farzad Jamshidi; Emily Place; Daniel Navarro-Gomez; Mathew Maher; Elise Valkanas; Monkol Lek; Daniel MacArthur; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5416.

ARVO Annual Meeting Abstract June 2017

Copy number variation in the inherited retinal degenerations

Kinga Maria Bujakowska; Emily Place; Daniel Navarro-Gomez; Alex Mazzone; Matthew Maher; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):623.

ARVO Annual Meeting Abstract June 2017

CRISPR/Cas9 gene-edited RPE cells to model early stages of AMD

Rosario Fernandez-Godino; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2281.

ARVO Annual Meeting Abstract June 2017

Ift172 conditional knockout mice model human IFT172- associated retinal degeneration

Priya Rani Gupta; Scott H Greenwald; Mihoko Leon; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4520.

ARVO Annual Meeting Abstract June 2017

The Effect Of Vitamin A On Progression Of Retinitis Pigmentosa Is Not Determined By The Underlying Genetic Cause Of Disease

Eric A Pierce; Kinga Maria Bujakowska; Emily Place; Daniel Navarro-Gomez; Matthew Maher; Carol Weigel-DFranco; Jason Comander

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2011.

ARVO Annual Meeting Abstract September 2016

Copy number variation - missing inheritance in retinal disorder

Kinga M Bujakowska; Rosario Fernandez-Godino; Emily Place; Mark Consugar; Daniel Navarro-Gomez; Joseph White; Hongbo Xie; Xiaowu Gai; Bart Peter Leroy; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

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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.

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly

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

Functional annotation of glaucoma-associated ATXN2 variants using zebrafish

Structural and splicing RPGRIP1 mutations in inherited retinal degenerations

Copy number variation in the inherited retinal degenerations

CRISPR/Cas9 gene-edited RPE cells to model early stages of AMD

Ift172 conditional knockout mice model human IFT172- associated retinal degeneration

The Effect Of Vitamin A On Progression Of Retinitis Pigmentosa Is Not Determined By The Underlying Genetic Cause Of Disease

Copy number variation - missing inheritance in retinal disorder

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