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ARVO Annual Meeting Abstract June 2024

Using Machine Learning to Assess the Pathogenicity of Small In-frame Indels in Inherited Retinal Disease

David Eldon Rauch; Meng Wang; Hafiz Muhammad Jafar Hussain; Daniel Christopher Brock; Yumei Li; Molly Marra; Mark E Pennesi; Paul Yang; Lesley Everett; Irma Lopez; Edward Ryan Collantes; Joanne Bolinao; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4688.

ARVO Annual Meeting Abstract July 2018

A Natural History Study of Visual Function in Patients with Usher Syndrome Type 1C.

Meredith Harrell Hartman; Katelyn N. Robillard; Vincent Sun; Irma Lopez; Mariam Ibrahim; Kelsey Walsdorf; Maria Reinoso; Robert K Koenekoop; Jennifer J Lentz

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):48.

Genetics February 2017

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

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Vafa Keser; Ayesha Khan; Sorath Siddiqui; Irma Lopez; Huanan Ren; Raheel Qamar; Javad Nadaf; Jacek Majewski; Rui Chen; Robert K. Koenekoop
TAGS: family, genes, genetics, mutation, phenotype, retinal detachment, tissue dissection, homozygote, familial exudative vitreoretinopathies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):1028-1036. https://doi.org/10.1167/iovs.16-20281

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

Calcified crystalline material in peripheral lymphocytes in choroideremia- a novel discovery

Alice Yang Zhang; Vincent Sun; Hojatollah Vali; Jamie Koenekoop; Kelly Sears; Norma Fajardo; Irma Lopez; Nancy Braverman; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6600.

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

Retina December 2015

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

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Alice Yang Zhang; Naveen Mysore; Hojatollah Vali; Jamie Koenekoop; Sang Ni Cao; Shen Li; Huanan Ren; Vafa Keser; Irma Lopez-Solache; Sorath Noorani Siddiqui; Ayesha Khan; Jeannie Mui; Kelly Sears; Jim Dixon; Jeremy Schwartzentruber; Jacek Majewski; Nancy Braverman; Robert K. Koenekoop
TAGS: choroideremia, fatty acids, lipids, lymphocytes, plasma, systemic disease, tissue membrane
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8158-8165. https://doi.org/10.1167/iovs.14-15751

ARVO Annual Meeting Abstract June 2015

Systematic Evaluation of Noncoding Mutations in Inherited R etinal D egeneration (RD) Patients with Missing Heritability

Violet Gelowani; Eric Zaneveld; Feng Wang; Jason Scott Salvo; Irma Lopez; Huanan Ren; Ruifang Sui; Robert K Koenekoop; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1239.

ARVO Annual Meeting Abstract June 2015

A possible new gene for cone-rod dystrophy

Si-Liang Peng; Huanan Ren; Norma Fajardo; Irma Lopez; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1780.

ARVO Annual Meeting Abstract June 2015

Hypomorphic mutations in CLUAP1 cause Leber congenital amaurosis

Zachry Soens; Yuanyuan Li; Li Zhao; Yumei Li; Zhaoxia Sun; Ayesha Khan; Norma Fajardo; Irma Lopez; Robert K Koenekoop; Rui Chen; Genetics of Leber congenital amaurosis

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4349.

Genetics November 2014

A Dominant Mutation in Hexokinase 1 ( HK1 ) Causes Retinitis Pigmentosa

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Lori S. Sullivan; Daniel C. Koboldt; Sara J. Bowne; Steven Lang; Susan H. Blanton; Elizabeth Cadena; Cheryl E. Avery; Richard A. Lewis; Kaylie Webb-Jones; Dianna H. Wheaton; David G. Birch; Razck Coussa; Huanan Ren; Irma Lopez; Christina Chakarova; Robert K. Koenekoop; Charles A. Garcia; Robert S. Fulton; Richard K. Wilson; George M. Weinstock; Stephen P. Daiger
TAGS: genes, hexokinase, mutation, retinitis pigmentosa, family
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7147-7158. https://doi.org/10.1167/iovs.14-15419

Includes: Supplemental Content

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 June 2013

Pupillometry in Patients with Leber Congenital Amaurosis: Feasibility, Residual Retinal Cell Function, and Paradoxical Response

Radwan Ajlan; Leah Wood; Jamie Koenekoop; Sorathnoorani Siddiqui; Irma Lopez; Vafa Keser; Ayesha Khan; Huanan Ren; Rui Chen; Robert Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):648.

ARVO Annual Meeting Abstract June 2013

Is solute carrier protein (SC1) a novel gene for autosomal recessive retinitis pigmentosa?

Alice Zhang; Shen Li; Huanan Ren; Irma Lopez; Sorathnoorani Siddiqui; Dror Sharon; Ayesha Khan; Paul Goodyer; Rui Chen; Robert Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):649.

ARVO Annual Meeting Abstract June 2013

Choroideremia is a Systemic Disease with Retinal Crystals, Lymphocyte Crystals and Serum Lipid Abnormalities

Naveen Mysore; Sangni Cao; Jamie Koenekoop; Huanan Ren; Vafa Keser; Irma Lopez-Solache; Sorathnoorani Siddiqui; Ayesha Khan; Shen Li; Robert Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):716.

Genetics June 2013

Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

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Qing Fu; Feng Wang; Hui Wang; Fei Xu; Jacques E. Zaneveld; Huanan Ren; Vafa Keser; Irma Lopez; Han-Fang Tuan; Jason S. Salvo; Xia Wang; Li Zhao; Keqing Wang; Yumei Li; Robert K. Koenekoop; Rui Chen; Ruifang Sui
TAGS: autosomal recessive inheritance, chinese (other dialects), chinese people, cohort studies, family, genes, massively-parallel genome sequencing, molecular diagnostic techniques, mutation, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2013; 54(6):4158-4166. https://doi.org/10.1167/iovs.13-11672

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Cloning and Functional Studies of LCA9 Disease Gene

Rui Chen; Hui Wang; Yiyun Chen; Huidan Xu; Yumei Li; Xia Wang; Graeme Mardon; Irma Lopez-Solache; Qing Fu; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4537.

ARVO Annual Meeting Abstract March 2012

A New Gene for Crystalline Retinal Dystrophy on the X Chromosome

Naveen Mysore; Ahmed A. Basheikh; Huanan Ren; Jeremy Schwartzentruber; Vafa Kesar; Qing Fu; Ayesha Khan; Irma Lopez-Solache; Jacek Majewski; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4539.

ARVO Annual Meeting Abstract March 2012

Clinical Diagnosis by Targeted Sequencing Using Personal Genome Machine

Xia wang; Donna Muzny; Robert K. Koenekoop; Yuanqing Wu; Christian Buhay; Hui Wang; Irma Lopez; Min Wang; Richard A. Gibbs; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4568.

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.

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Using Machine Learning to Assess the Pathogenicity of Small In-frame Indels in Inherited Retinal Disease

A Natural History Study of Visual Function in Patients with Usher Syndrome Type 1C.

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

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

Calcified crystalline material in peripheral lymphocytes in choroideremia- a novel discovery

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

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Systematic Evaluation of Noncoding Mutations in Inherited R etinal D egeneration (RD) Patients with Missing Heritability

A possible new gene for cone-rod dystrophy

Hypomorphic mutations in CLUAP1 cause Leber congenital amaurosis

A Dominant Mutation in Hexokinase 1 ( HK1 ) Causes Retinitis Pigmentosa

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

Pupillometry in Patients with Leber Congenital Amaurosis: Feasibility, Residual Retinal Cell Function, and Paradoxical Response

Is solute carrier protein (SC1) a novel gene for autosomal recessive retinitis pigmentosa?

Choroideremia is a Systemic Disease with Retinal Crystals, Lymphocyte Crystals and Serum Lipid Abnormalities

Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

Cloning and Functional Studies of LCA9 Disease Gene

A New Gene for Crystalline Retinal Dystrophy on the X Chromosome

Clinical Diagnosis by Targeted Sequencing Using Personal Genome Machine

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

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