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Molecular Anatomy of the Developing Human Retina

Developmental cell, 2017-12, Vol.43 (6), p.763-779.e4

2017

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Genome-wide analysis of disease progression in age-related macular degeneration

Human molecular genetics, 2018-03, Vol.27 (5), p.929-940

2018

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The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration

Retinal Degenerative Diseases XIX, p.61-66

Ratnapriya, Rinki

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A mega-analysis of expression quantitative trait loci in retinal tissue

PLoS genetics, 2020-09, Vol.16 (9), p.e1008934-e1008934

2020

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Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration

PloS one, 2015-05, Vol.10 (5), p.e0126636-e0126636

2015

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Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent

Molecular vision, 2019, Vol.25 (1), p.79-92

2019

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A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Human molecular genetics, 2016-04, Vol.25 (7), p.1382-1391

2016

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Applications of Genomic Technologies in Retinal Degenerative Diseases

Advances in experimental medicine and biology, 2019, Vol.1185, p.281-285

Ratnapriya, Rinki

2019

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REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

Human molecular genetics, 2017-06, Vol.26 (12), p.2218-2230

2017

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IL-17 Producing Lymphocytes Cause Dry Eye and Corneal Disease With Aging in RXRα Mutant Mouse

Frontiers in medicine, 2022-03, Vol.9, p.849990-849990

2022

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An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene

Annals of neurology, 2008-08, Vol.64 (2), p.158-167

2008

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A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

Frontiers in cell and developmental biology, 2021-08, Vol.9, p.720782-720782

2021

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EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

Genes, 2017-07, Vol.8 (7), p.178

2017

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No Clinically Significant Association between CFH and ARMS2 Genotypes and Response to Nutritional Supplements

Ophthalmology (Rochester, Minn.), 2014-11, Vol.121 (11), p.2173-2180

2014

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Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

Genome medicine, 2013-10, Vol.5 (10), p.84-84, Article 84

2013

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Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration

Advances in experimental medicine and biology, 2021-01, Vol.1256, p.201-219

2021

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Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Nature genetics, 2019-04, Vol.51 (4), p.606-610

2019

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Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research

Progress in retinal and eye research, 2016-11, Vol.55, p.1-31

2016

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Vision from next generation sequencing: Multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease

Progress in retinal and eye research, 2015-05, Vol.46, p.1-30

2015

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Single-cell transcriptional profiling of murine conjunctival immune cells reveals distinct populations expressing homeostatic and regulatory genes

Mucosal immunology, 2022-04, Vol.15 (4), p.620-628

2022

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Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration

Ophthalmology (Rochester, Minn.), 2018-03, Vol.125 (3), p.398-406

2018

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A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14

Ophthalmology (Rochester, Minn.), 2018-04, Vol.125 (4), p.559-568

2018

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Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration

Human molecular genetics, 2024-02, Vol.33 (4), p.374-385

2024

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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

Investigative ophthalmology & visual science, 2016-11, Vol.57 (14), p.6374-6381

2016

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Molecular Anatomy of the Developing Human Retina

Genome-wide analysis of disease progression in age-related macular degeneration

The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration

A mega-analysis of expression quantitative trait loci in retinal tissue

Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Applications of Genomic Technologies in Retinal Degenerative Diseases

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

IL-17 Producing Lymphocytes Cause Dry Eye and Corneal Disease With Aging in RXRα Mutant Mouse

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

No Clinically Significant Association between CFH and ARMS2 Genotypes and Response to Nutritional Supplements

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research

Vision from next generation sequencing: Multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease

Single-cell transcriptional profiling of murine conjunctival immune cells reveals distinct populations expressing homeostatic and regulatory genes

Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration

A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

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