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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. doi: https://doi.org/10.1167/iovs.16-20281

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. doi: 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. doi: 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. doi:

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. doi:

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. doi: 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. doi:

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. doi:

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. doi:

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. doi:

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. doi: https://doi.org/10.1167/iovs.13-11672

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Baseline Fundus Autofluorescence (FAF) in Subjects with Retinitis Pigmentosa (RP) Due To LRAT Mutations

Sulaiman Alhumaid; Huanan Ren; Amer Omar; Radwan Ajlan; Mahshad Darvish-Zargar; Ayesha Khan; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1213. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract March 2012

Identification of a new gene for Autosomal Recessive Retinitis Pigmentosa (arRP)

Razek Georges Coussa; Huanan Ren; Irma Lopez; Vafa Keser; Jeremy Schwartzentruber; Edgar A. Otto; Heon-Yung Gee; Jacek Majewski; Friedhelm Hildebrandt; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1731. doi:

ARVO Annual Meeting Abstract March 2012

Mutations In Lca9 Cause Human Congenital Blindness Due To Leber Congenital Amaurosis

Irma Lopez-Solache; Robert K. Koenekoop; Huanan Ren; Vafa Keser; Qing Fu; Mohamed A. Genead; Gerry Fishman; Elias I. Traboulsi; Hui Wang; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1733. doi:

ARVO Annual Meeting Abstract April 2011

Baseline Fundus Autofluorescence Patterns In Leber Congenital Amaurosis (LCA) Patients With RPE65 Or LRAT Mutations

Sulaiman Alhumaid; Julie Racine; Mashad Darvish; Ayesha Khan; Stephanie Oglietti; Huanan Ren; Daniel Chung; Jean Bennett; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):43. doi:

ARVO Annual Meeting Abstract April 2011

Homozygosity Mapping Identifies A Novel Locus For An Unusual Form Of Leber Congenital Amaurosis

Ahmed A. Basheikh; Julie Racine; Irma Lopez; Huanan Ren; Mahshad Darvish; Silvin Bakalian; Anneke den Hollander; Frans P. Cremers; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):65. doi:

ARVO Annual Meeting Abstract April 2011

A New Ocular Phenotype Associated With An Unexpected, But Known Systemic Disorder And Mutation: Novel Use Of Genomic Diagnostics And Exome Sequencing

Irma Lopez-Solache; Zibo Wang; Ren Huanan; Leah Wood; Grant Mitchel; Racine Julie; Nancy Braverman; Jacek Majewski; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):63. doi:

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

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

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

Baseline Fundus Autofluorescence (FAF) in Subjects with Retinitis Pigmentosa (RP) Due To LRAT Mutations

A New Gene for Crystalline Retinal Dystrophy on the X Chromosome

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

Identification of a new gene for Autosomal Recessive Retinitis Pigmentosa (arRP)

Mutations In Lca9 Cause Human Congenital Blindness Due To Leber Congenital Amaurosis

Baseline Fundus Autofluorescence Patterns In Leber Congenital Amaurosis (LCA) Patients With RPE65 Or LRAT Mutations

Homozygosity Mapping Identifies A Novel Locus For An Unusual Form Of Leber Congenital Amaurosis

A New Ocular Phenotype Associated With An Unexpected, But Known Systemic Disorder And Mutation: Novel Use Of Genomic Diagnostics And Exome Sequencing

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