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ARVO Annual Meeting Abstract July 2019

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

Isabelle S Audo; Maria Solaguren-Beascoa; Kinga Bujakowska; Cécile Méjécase; Lisa Emmengger; Saddek Mohand-Said; Thierry D Leveillard; Eric A Pierce; Helene Dollfus; Jose Alain Sahel; Shomi Bhattacharya; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):381.

ARVO Annual Meeting Abstract September 2016

A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP)

Fares Antaki; Razek Georges Coussa; Christina Chakarova; Susan Wakil; Vincent Sun; Pierre Lachapelle; Allison Dorfman; Irma Lopez; Kunka Kamenarova; Shomi S Bhattacharya; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):127.

ARVO Annual Meeting Abstract September 2016

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Galuh D.N. Astuti; Tamar Ben-Yosef; Susanne Kohl; Rando Allikmets; Graeme C.M. Black; Shomi S Bhattacharya; Christian P Hamel; M Imran Khan; Lonneke Haer-Wigman; Frans P Cremers

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

ARVO Annual Meeting Abstract September 2016

Sirt1 activators induced neuroprotection of photoreceptors in rd10 mice

Francisco Javier Diaz-Corrales; Juan Carlos Morales-Sánchez; Lourdes Valdés-Sánchez; Ricardo Lucas-Rodríguez; Daniel Rodriguez-Martinez; Pablo Peñalver; Andrea Diez-Lloret; Vaibhav Bhatia; Berta De la Cerda; Eduardo Rodriguez-Bocanegra; Shomi S Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4388.

ARVO Annual Meeting Abstract September 2016

Genome wide linkage scan of primary angle-closure glaucoma and its endophenotypes

Sancy Low; Pia Ostergaard; Naushin Waseem; Jonathan Ruddle; Mingguang He; Heather Cordell; Shomi Bhattacharya; David F Garway-Heath; Peng Tee Khaw; Paul J Foster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):806.

Genetics December 2015

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

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Razek Georges Coussa; Christina Chakarova; Radwan Ajlan; Mohammed Taha; Conrad Kavalec; Julius Gomolin; Ayesha Khan; Irma Lopez; Huanan Ren; Naushin Waseem; Kunka Kamenarova; Shomi S. Bhattacharya; Robert K. Koenekoop
TAGS: french, genotype, mutation, phenotype, retinitis pigmentosa, genes, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8297-8305. https://doi.org/10.1167/iovs.15-17104

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Mouse Prpf3, 8 and 31 mutants show altered rhythms of retinal phagocytosis and adhesion

Deborah Lew; Michael H Farkas; Kinga Maria Bujakowska; Jonathan Chatagnon; Shomi S Bhattacharya; Eric Pierce; Emeline F Nandrot

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):2963.

ARVO Annual Meeting Abstract April 2014

Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.

Razek Georges Coussa; Christina Chakarova; Radwan Ajlan; Conrad Kavalec; Aysha Khan; Irma Lopez; Huanan Ren; Naushin Waseem; Shomi S Bhattacharya; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3265.

ARVO Annual Meeting Abstract April 2014

TRANSPLANTED mESC-DERIVED RETINAL PROGENITORS DIFFERENTIATE TO MATURE PHOTORECEPTORS IN VIVO, MIGRATE AND INTEGRATE IN THE MICE RETINA

Marcela Garita; Francisco Díaz-Corrales; Slaven Erceg; Shomi Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3988.

Retinal Cell Biology December 2013

Further Insights Into GPR179: Expression, Localization, and Associated Pathogenic Mechanisms Leading to Complete Congenital Stationary Night Blindness

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Elise Orhan; Laurent Prézeau; Said El Shamieh; Kinga M. Bujakowska; Christelle Michiels; Yvrick Zagar; Claire Vol; Shomi S. Bhattacharya; José-Alain Sahel; Florian Sennlaub; Isabelle Audo; Christina Zeitz
TAGS: in situ hybridization, mice, mutation, night blindness, congenital stationary, proteins, retina, rna, antibodies, genes, enzyme-linked immunosorbent assay
Invest. Ophthalmol. Vis. Sci.. 2013; 54(13):8041-8050. https://doi.org/10.1167/iovs.13-12610

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2013

Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness

Christina Zeitz; Samuel Jacobson; Christian Hamel; Kinga Bujakowska; Marion Neuillé; Elise Orhan; Xavier Zanlonghi; Jose Sahel; Shomi Bhattacharya; Isabelle Audo; CSNB study group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3350.

ARVO Annual Meeting Abstract June 2013

The familial dementia gene revisited: ITM2B missense mutation causes a new dominant retinal dystrophy

Isabelle Audo; Kinga Bujakowska; Elise Orhan; Florian Sennlaub; Xavier Guillonneau; Thierry Leveillard; Saddek Mohand-Said; Shomi Bhattacharya; Jose Sahel; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3356.

ARVO Annual Meeting Abstract June 2013

Rare and common variants in extracellular matrix gene fibrillin 2 (FBN2) are associated with inherited and age-related macular degeneration, respectively

Anand Swaroop; Rinki Ratna Priya; Xiaowei Zhan; Robert Fariss; Kari Branham; Emily Chew; Dwight Stambolian; Shomi Bhattacharya; John Heckenlively; Goncalo Abecasis

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):4975.

ARVO Annual Meeting Abstract June 2013

Identification of Interacting Protein Partners of TOPORS in the Retina

Barbara Czub; Amna Shah; Giovanna Alfano; Lourdes Valdés Sánchez; Christina Chakarova; Shomi Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):6105.

ARVO Annual Meeting Abstract March 2012

Mutations In A Novel Gene, GPR179 Lead To Autosomal Recessive Complete Congenital Stationary Night Blindness

Christina Zeitz; Kinga Bujakowska; Elise Orhan; Jose-Alain Sahel; Shomi S. Bhattacharya; Isabelle Audo; CSNB study group

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1729.

ARVO Annual Meeting Abstract March 2012

Polymorphic Variation In The Expression Of CNOT3 Determines The Penetrance Of PRPF31 Mutations In Autosomal Dominant Retinitis Pigmentosa

Giulia Venturini; Shomi S. Bhattacharya; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1734.

ARVO Annual Meeting Abstract March 2012

Strategies To Identify Genetic Variants In Autosomal Recessive Rod-cone Dystrophy Patients

Kinga M. Bujakowska; Isabelle S. Audo; Saddek Mohand-Saïd; Melanie Letexier; Jean-Paul Saraiva; Christine Lonjou; Wassila Carpentier; José-Alain Sahel; Shomi S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4517.

ARVO Annual Meeting Abstract March 2012

Novel Mutations In Autosomal Dominant Retinitis Pigmentosa And Their Prevalence In The French - Canadian Population, A Well - Known Founder Population

Christina F. Chakarova; Razek Georges Coussa; Radwan Ajlan; Irma Lopez; Huanan Ren; Naushin H. Waseem; Shomi S. Bhattacharya; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4570.

ARVO Annual Meeting Abstract March 2012

An Unusual Autosomal Dominant Retinal Dystrophy Combining Inner Retinal Dysfunction And Progressive Cone Dystrophy Is Associated With A Novel Gene Defect

Isabelle S. Audo; Kinga M. Bujakowska; Mélanie Letexier; Jean-Paul Saraiva; Saddek Mohand-Saïd; Botond Roska; Thierry Léveillard; Shomi S. Bhattacharya; José-Alain Sahel; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1226.

Genetics January 2012

Common Polymorphisms in the SERPINI2 Gene Are Associated with Refractive Error in the 1958 British Birth Cohort

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Pirro G. Hysi; Claire L. Simpson; Yvonne K. Y. Fok; Dianne Gerrelli; Andrew R. Webster; Shomi S. Bhattacharya; Christopher J. Hammond; Pak C. Sham; Jugnoo S. Rahi
TAGS: birth, cohort studies, genes, polymorphism, refractive errors, myopia, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2012; 53(1):440-447. https://doi.org/10.1167/iovs.10-5640

Includes: Supplemental Content

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Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP)

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Sirt1 activators induced neuroprotection of photoreceptors in rd10 mice

Genome wide linkage scan of primary angle-closure glaucoma and its endophenotypes

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

Mouse Prpf3, 8 and 31 mutants show altered rhythms of retinal phagocytosis and adhesion

Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.

TRANSPLANTED mESC-DERIVED RETINAL PROGENITORS DIFFERENTIATE TO MATURE PHOTORECEPTORS IN VIVO, MIGRATE AND INTEGRATE IN THE MICE RETINA

Further Insights Into GPR179: Expression, Localization, and Associated Pathogenic Mechanisms Leading to Complete Congenital Stationary Night Blindness

Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness

The familial dementia gene revisited: ITM2B missense mutation causes a new dominant retinal dystrophy

Rare and common variants in extracellular matrix gene fibrillin 2 (FBN2) are associated with inherited and age-related macular degeneration, respectively

Identification of Interacting Protein Partners of TOPORS in the Retina

Mutations In A Novel Gene, GPR179 Lead To Autosomal Recessive Complete Congenital Stationary Night Blindness

Polymorphic Variation In The Expression Of CNOT3 Determines The Penetrance Of PRPF31 Mutations In Autosomal Dominant Retinitis Pigmentosa

Strategies To Identify Genetic Variants In Autosomal Recessive Rod-cone Dystrophy Patients

Novel Mutations In Autosomal Dominant Retinitis Pigmentosa And Their Prevalence In The French - Canadian Population, A Well - Known Founder Population

An Unusual Autosomal Dominant Retinal Dystrophy Combining Inner Retinal Dysfunction And Progressive Cone Dystrophy Is Associated With A Novel Gene Defect

Common Polymorphisms in the SERPINI2 Gene Are Associated with Refractive Error in the 1958 British Birth Cohort

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