| 37934784 | Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration. | Hum Mol Genet | 2024 |
| 37398472 | QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration. | Res Sq | 2023 |
| 37440015 | The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration. | Adv Exp Med Biol | 2023 |
| 35361907 | Single-cell transcriptional profiling of murine conjunctival immune cells reveals distinct populations expressing homeostatic and regulatory genes. | Mucosal Immunol | 2022 |
| 35402439 | IL-17 Producing Lymphocytes Cause Dry Eye and Corneal Disease With Aging in RXRα Mutant Mouse. | Front Med (Lausanne) | 2022 |
| 34485303 | A Novel <i>ARL3</i> Gene Mutation Associated With Autosomal Dominant Retinal Degeneration. | Front Cell Dev Biol | 2021 |
| 33848003 | Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration. | Adv Exp Med Biol | 2021 |
| 32246154 | Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. | Hum Mol Genet | 2020 |
| 32087877 | Reply. | Ophthalmology | 2020 |
| 32870927 | A mega-analysis of expression quantitative trait loci in retinal tissue. | PLoS Genet | 2020 |
| 32476814 | A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant. | Mol Vis | 2020 |
| 30820144 | Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent. | Mol Vis | 2019 |
| 31884625 | Applications of Genomic Technologies in Retinal Degenerative Diseases. | Adv Exp Med Biol | 2019 |
| 31358387 | No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low versus High Zinc, or β-Carotene versus Lutein and Zeaxanthin on Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report No. 18. | Ophthalmology | 2019 |
| 30742112 | Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. | Nat Genet | 2019 |
| 31120506 | Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. | JAMA Ophthalmol | 2019 |
| 29096998 | 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 | 2018 |
| 30060980 | Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16. | Ophthalmology | 2018 |
| 29224928 | Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration. | Ophthalmology | 2018 |
| 29346644 | Genome-wide analysis of disease progression in age-related macular degeneration. | Hum Mol Genet | 2018 |
| 28704921 | EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. | Genes (Basel) | 2017 |
| 28412069 | Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. | Ophthalmology | 2017 |
| 28369466 | REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival. | Hum Mol Genet | 2017 |
| 28341650 | Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores. | Genetics | 2017 |
| 29233477 | Molecular Anatomy of the Developing Human Retina. | Dev Cell | 2017 |
| 26691988 | A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. | Nat Genet | 2016 |
| 27588452 | Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. | Am J Hum Genet | 2016 |
| 27814526 | Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. | Am J Hum Genet | 2016 |
| 27898983 | Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. | Invest Ophthalmol Vis Sci | 2016 |
| 27297499 | Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research. | Prog Retin Eye Res | 2016 |
| 26854823 | Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration. | Exp Eye Res | 2016 |
| 26908622 | A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. | Hum Mol Genet | 2016 |
| 25668385 | Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease. | Prog Retin Eye Res | 2015 |
| 26306921 | Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. | Sci Rep | 2015 |
| 26077327 | Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. | Hum Mutat | 2015 |
| 25962167 | Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration. | PLoS One | 2015 |
| 24382353 | OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. | J Clin Invest | 2014 |
| 25515582 | Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. | Invest Ophthalmol Vis Sci | 2014 |
| 24974817 | No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38. | Ophthalmology | 2014 |
| 24899048 | Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. | Hum Mol Genet | 2014 |
| 23455636 | Seven new loci associated with age-related macular degeneration. | Nat Genet | 2013 |
| 24036949 | Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. | Nat Genet | 2013 |
| 24112618 | Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. | Genome Med | 2013 |
| 23713713 | Age-related macular degeneration-clinical review and genetics update. | Clin Genet | 2013 |
| 22688718 | Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery. | Methods Mol Biol | 2012 |
| 23009893 | Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management. | Ophthalmology | 2012 |
| 20467754 | A locus for juvenile myoclonic epilepsy maps to 2q33-q36. | Hum Genet | 2010 |
| 19266219 | A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3. | Hum Genet | 2009 |
| 19597845 | Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28. | Hum Genet | 2009 |
| 18756473 | An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. | Ann Neurol | 2008 |