Anand Swaroop

Publications

• Aging of the Retina: Molecular and Metabolic Turbulences and Potential Interventions
  Annual Review of Vision Science. Jun, 2021  |   Pubmed ID: 34061570
• Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk
  Translational Vision Science & Technology. 02, 2021  |   Pubmed ID: 34003914
• Genetics and Therapy for Pediatric Eye Diseases
  EBioMedicine. May, 2021  |   Pubmed ID: 33975254
• Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration
  Advances in Experimental Medicine and Biology. 2021  |   Pubmed ID: 33848003
• 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  |   Pubmed ID: 30820144
• Three-dimensional Retinal Organoids from Mouse Pluripotent Stem Cells Mimic Development with Enhanced Stratification and Rod Photoreceptor Differentiation
  Molecular Vision. 2016  |   Pubmed ID: 27667917
• Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
  American Journal of Human Genetics. Sep, 2016  |   Pubmed ID: 27588452
• A Reference Panel of 64,976 Haplotypes for Genotype Imputation
  Nature Genetics. 10, 2016  |   Pubmed ID: 27548312
• Recruitment of Rod Photoreceptors from Short-Wavelength-Sensitive Cones During the Evolution of Nocturnal Vision in Mammals
  Developmental Cell. 06, 2016  |   Pubmed ID: 27326930
• A Secreted WNT-ligand-binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma
  Human Molecular Genetics. Apr, 2016  |   Pubmed ID: 26908622
• A Large Genome-wide Association Study of Age-related Macular Degeneration Highlights Contributions of Rare and Common Variants
  Nature Genetics. Feb, 2016  |   Pubmed ID: 26691988
• Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria
  Investigative Ophthalmology & Visual Science. Dec, 2015  |   Pubmed ID: 26747773
• Long-term Rescue of Cone Photoreceptor Degeneration in Retinitis Pigmentosa 2 (RP2)-knockout Mice by Gene Replacement Therapy
  Human Molecular Genetics. Nov, 2015  |   Pubmed ID: 26358772
• CEP290 Alleles in Mice Disrupt Tissue-specific Cilia Biogenesis and Recapitulate Features of Syndromic Ciliopathies
  Human Molecular Genetics. Jul, 2015  |   Pubmed ID: 25859007
• The Transcription Factor GTF2IRD1 Regulates the Topology and Function of Photoreceptors by Modulating Photoreceptor Gene Expression Across the Retina
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Nov, 2014  |   Pubmed ID: 25392503
• Feedback Induction of a Photoreceptor-specific Isoform of Retinoid-related Orphan Nuclear Receptor β by the Rod Transcription Factor NRL
  The Journal of Biological Chemistry. Nov, 2014  |   Pubmed ID: 25296752
• Null and Hypomorph Prickle1 Alleles in Mice Phenocopy Human Robinow Syndrome and Disrupt Signaling Downstream of Wnt5a
  Biology Open. 2014  |   Pubmed ID: 25190059
• Ciliopathy-associated Gene Cc2d2a Promotes Assembly of Subdistal Appendages on the Mother Centriole During Cilia Biogenesis
  Nature Communications. 2014  |   Pubmed ID: 24947469
• Rare and Common Variants in Extracellular Matrix Gene Fibrillin 2 (FBN2) Are Associated with Macular Degeneration
  Human Molecular Genetics. Nov, 2014  |   Pubmed ID: 24899048
• Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration
  Nature Genetics. Nov, 2013  |   Pubmed ID: 24036949
• An Isoform of Retinoid-related Orphan Receptor β Directs Differentiation of Retinal Amacrine and Horizontal Interneurons
  Nature Communications. 2013  |   Pubmed ID: 23652001
• Conditional Knockdown of DNA Methyltransferase 1 Reveals a Key Role of Retinal Pigment Epithelium Integrity in Photoreceptor Outer Segment Morphogenesis
  Development (Cambridge, England). Mar, 2013  |   Pubmed ID: 23406904
• RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model
  Investigative Ophthalmology & Visual Science. Sep, 2012  |   Pubmed ID: 22807293
• Transcriptional Regulation of Rod Photoreceptor Homeostasis Revealed by in Vivo NRL Targetome Analysis
  PLoS Genetics. 2012  |   Pubmed ID: 22511886
• Combining Cep290 and Mkks Ciliopathy Alleles in Mice Rescues Sensory Defects and Restores Ciliogenesis
  The Journal of Clinical Investigation. Apr, 2012  |   Pubmed ID: 22446187
• Gene Therapy Rescues Photoreceptor Blindness in Dogs and Paves the Way for Treating Human X-linked Retinitis Pigmentosa
  Proceedings of the National Academy of Sciences of the United States of America. Feb, 2012  |   Pubmed ID: 22308428
• Complement Factor H Genetic Variant and Age-related Macular Degeneration: Effect Size, Modifiers and Relationship to Disease Subtype
  International Journal of Epidemiology. Jan, 2012  |   Pubmed ID: 22253316
• A 32 Kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-related Macular Degeneration
  PloS One. 2011  |   Pubmed ID: 22022419
• Complement Factor D in Age-related Macular Degeneration
  Investigative Ophthalmology & Visual Science. 2011  |   Pubmed ID: 22003108
• Evidence of Association of APOE with Age-related Macular Degeneration: a Pooled Analysis of 15 Studies
  Human Mutation. Dec, 2011  |   Pubmed ID: 21882290
• Candidate Gene Association Study for Diabetic Retinopathy in Persons with Type 2 Diabetes: the Candidate Gene Association Resource (CARe)
  Investigative Ophthalmology & Visual Science. Sep, 2011  |   Pubmed ID: 21873659
• The Transcription Factor Neural Retina Leucine Zipper (NRL) Controls Photoreceptor-specific Expression of Myocyte Enhancer Factor Mef2c from an Alternative Promoter
  The Journal of Biological Chemistry. Oct, 2011  |   Pubmed ID: 21849497
• Two Transcription Factors Can Direct Three Photoreceptor Outcomes from Rod Precursor Cells in Mouse Retinal Development
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Aug, 2011  |   Pubmed ID: 21813673
• Combinatorial Regulation of Photoreceptor Differentiation Factor, Neural Retina Leucine Zipper Gene NRL, Revealed by in Vivo Promoter Analysis
  The Journal of Biological Chemistry. Aug, 2011  |   Pubmed ID: 21673114
• Distinct Nuclear Localization Patterns of DNA Methyltransferases in Developing and Mature Mammalian Retina
  The Journal of Comparative Neurology. Jul, 2011  |   Pubmed ID: 21452232
• The Retinitis Pigmentosa Protein RP2 Interacts with Polycystin 2 and Regulates Cilia-mediated Vertebrate Development
  Human Molecular Genetics. Nov, 2010  |   Pubmed ID: 20729296
• Sumoylation of BZIP Transcription Factor NRL Modulates Target Gene Expression During Photoreceptor Differentiation
  The Journal of Biological Chemistry. Aug, 2010  |   Pubmed ID: 20551322
• Genetic Variants Near TIMP3 and High-density Lipoprotein-associated Loci Influence Susceptibility to Age-related Macular Degeneration
  Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010  |   Pubmed ID: 20385819
• Retinoid-related Orphan Nuclear Receptor RORbeta is an Early-acting Factor in Rod Photoreceptor Development
  Proceedings of the National Academy of Sciences of the United States of America. Oct, 2009  |   Pubmed ID: 19805139
• Rdh12 Activity and Effects on Retinoid Processing in the Murine Retina
  The Journal of Biological Chemistry. Aug, 2009  |   Pubmed ID: 19506076
• A Common Allele in RPGRIP1L is a Modifier of Retinal Degeneration in Ciliopathies
  Nature Genetics. Jun, 2009  |   Pubmed ID: 19430481
• Rod Differentiation Factor NRL Activates the Expression of Nuclear Receptor NR2E3 to Suppress the Development of Cone Photoreceptors
  Brain Research. Oct, 2008  |   Pubmed ID: 18294621
• Senile Panretinal Cone Dysfunction in Age-related Macular Degeneration (AMD): a Report of 52 Amd Patients Compared to Age-matched Controls
  Transactions of the American Ophthalmological Society. 2006  |   Pubmed ID: 17471344
• Gene Therapy of Dominant CRX-Leber Congenital Amaurosis Using Patient Stem Cell-Derived Retinal Organoids
  Stem Cell Reports.   |   Pubmed ID: 33513359
• Loss of Endocytosis-associated RabGEF1 Causes Aberrant Morphogenesis and Altered Autophagy in Photoreceptors Leading to Retinal Degeneration
  PLoS Genetics.   |   Pubmed ID: 33362196
• Methylation of Two-component Response Regulator MtrA in Mycobacteria Negatively Modulates Its DNA Binding and Transcriptional Activation
  The Biochemical Journal.   |   Pubmed ID: 33175092
• Integration of Genomics and Transcriptomics Predicts Diabetic Retinopathy Susceptibility Genes
  ELife.   |   Pubmed ID: 33164750
• Divergent Effects of HSP70 Overexpression in Photoreceptors During Inherited Retinal Degeneration
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 33107904
• An Optimized Protocol for Retina Single-cell RNA Sequencing
  Molecular Vision.   |   Pubmed ID: 33088174
• A Mega-analysis of Expression Quantitative Trait Loci in Retinal Tissue
  PLoS Genetics.   |   Pubmed ID: 32870927
• Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2
  Ophthalmology.   |   Pubmed ID: 32858063
• HIPRO: A High-Efficiency, Hypoxia-Induced Protocol for Generation of Photoreceptors in Retinal Organoids from Mouse Pluripotent Stem Cells
  STAR Protocols.   |   Pubmed ID: 32754720
• Primary Cilia Biogenesis and Associated Retinal Ciliopathies
  Seminars in Cell & Developmental Biology.   |   Pubmed ID: 32747192
• Accelerated Development of Rod Photoreceptors in Retinal Organoids Derived from Human Pluripotent Stem Cells by Supplementation with 9- Retinal
  STAR Protocols.   |   Pubmed ID: 32728670
• Soy Protein Nanofiber Scaffolds for Uniform Maturation of Human Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium
  Tissue Engineering. Part C, Methods.   |   Pubmed ID: 32635833
• Retinal Pigment Epithelium Transcriptome Analysis in Chronic Smoking Reveals a Suppressed Innate Immune Response and Activation of Differentiation Pathways
  Free Radical Biology & Medicine.   |   Pubmed ID: 32634473
• Pluripotent Stem Cell-derived Retinal Organoids for Disease Modeling and Development of Therapies
  Stem Cells (Dayton, Ohio).   |   Pubmed ID: 32506758
• A Unique -associated Variant in a Georgian Jewish Family with Probable North Carolina Macular Dystrophy and the Possible Contribution of a Unique Variant
  Molecular Vision.   |   Pubmed ID: 32476814
• Pharmacologic Fibroblast Reprogramming into Photoreceptors Restores Vision
  Nature.   |   Pubmed ID: 32376950
• Adherence to the Mediterranean Diet and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2
  Ophthalmology.   |   Pubmed ID: 32348832
• Genome-wide Profiling Identifies DNA Methylation Signatures of Aging in Rod Photoreceptors Associated with Alterations in Energy Metabolism
  Cell Reports.   |   Pubmed ID: 32320661
• Adherence to a Mediterranean Diet and Cognitive Function in the Age-Related Eye Disease Studies 1 & 2
  Alzheimer's & Dementia : the Journal of the Alzheimer's Association.   |   Pubmed ID: 32285590
• Deep-learning-based Prediction of Late Age-Related Macular Degeneration Progression
  Nature Machine Intelligence.   |   Pubmed ID: 32285025
• Family-based Exome Sequencing Identifies Rare Coding Variants in Age-related Macular Degeneration
  Human Molecular Genetics.   |   Pubmed ID: 32246154
• Retinal Organoids Derived from HiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture Despite Reduced Levels of Mutant AIPL1
  Scientific Reports.   |   Pubmed ID: 32214115
• Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression
  Molecular Biology and Evolution.   |   Pubmed ID: 32191319
• A Simple and Efficient Method for Generating Human Retinal Organoids
  Molecular Vision.   |   Pubmed ID: 32174751
• Reply
  Ophthalmology.   |   Pubmed ID: 32087877
• Expression of Deubiquitinating Enzyme Genes in the Developing Mammal Retina
  Molecular Vision.   |   Pubmed ID: 31819342
• Transcriptome-based Molecular Staging of Human Stem Cell-derived Retinal Organoids Uncovers Accelerated Photoreceptor Differentiation by 9-cis Retinal
  Molecular Vision.   |   Pubmed ID: 31814692
• Retinal Disease in Ciliopathies: Recent Advances with a Focus on Stem Cell-based Therapies
  Translational Science of Rare Diseases.   |   Pubmed ID: 31763178
• SSBP1 Faux Pas in Mitonuclear Tango Causes Optic Neuropathy
  The Journal of Clinical Investigation.   |   Pubmed ID: 31738184
• Improved Retinal Organoid Differentiation by Modulating Signaling Pathways Revealed by Comparative Transcriptome Analyses with Development In Vivo
  Stem Cell Reports.   |   Pubmed ID: 31631019
• 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.   |   Pubmed ID: 31358387
• Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration
  JAMA Ophthalmology.   |   Pubmed ID: 31120506
• Author Correction: Retinal Transcriptome and EQTL Analyses Identify Genes Associated with Age-related Macular Degeneration
  Nature Genetics.   |   Pubmed ID: 31068672
• Age-related Changes of the Retinal Microvasculature
  PloS One.   |   Pubmed ID: 31048908
• The Combination of Whole-exome Sequencing and Clinical Analysis Allows Better Diagnosis of Rare Syndromic Retinal Dystrophies
  Acta Ophthalmologica.   |   Pubmed ID: 30925032
• Retinal Transcriptome and EQTL Analyses Identify Genes Associated with Age-related Macular Degeneration
  Nature Genetics.   |   Pubmed ID: 30742112
• Mitochondrial Respiration in Outer Retina Contributes to Light-Evoked Increase in Hydration In Vivo
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 30551203
• Mini and Customized Low-cost Bioreactors for Optimized High-throughput Generation of Tissue Organoids
  Stem Cell Investigation.   |   Pubmed ID: 30498744
• Targeted Deletion of an NRL- and CRX-regulated Alternative Promoter Specifically Silences FERM and PDZ Domain Containing 1 (Frmpd1) in Rod Photoreceptors
  Human Molecular Genetics.   |   Pubmed ID: 30445545
• A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration
  Cell Reports.   |   Pubmed ID: 30332642
• Variegated Yet Non-random Rod and Cone Photoreceptor Disease Patterns in RPGR-ORF15-associated Retinal Degeneration
  Human Molecular Genetics.   |   Pubmed ID: 30285110
• Molecular Dissection of Cone Photoreceptor-enriched Genes Encoding Transmembrane and Secretory Proteins
  Journal of Neuroscience Research.   |   Pubmed ID: 30260491
• Cone-rod Homeobox CRX Controls Presynaptic Active Zone Formation in Photoreceptors of Mammalian Retina
  Human Molecular Genetics.   |   Pubmed ID: 30084954
• Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16
  Ophthalmology.   |   Pubmed ID: 30060980
• Patient IPSC-derived Neural Stem Cells Exhibit Phenotypes in Concordance with the Clinical Severity of Mucopolysaccharidosis I
  Human Molecular Genetics.   |   Pubmed ID: 30052969
• Determination of Mitochondrial Oxygen Consumption in the Retina Ex Vivo: Applications for Retinal Disease
  Methods in Molecular Biology (Clifton, N.J.).   |   Pubmed ID: 29564788
• Epigenetic Control of Gene Regulation During Development and Disease: A View from the Retina
  Progress in Retinal and Eye Research.   |   Pubmed ID: 29544768
• RNA Biology in Retinal Development and Disease
  Trends in Genetics : TIG.   |   Pubmed ID: 29395379
• Genome-wide Analysis of Disease Progression in Age-related Macular Degeneration
  Human Molecular Genetics.   |   Pubmed ID: 29346644
• Accelerated and Improved Differentiation of Retinal Organoids from Pluripotent Stem Cells in Rotating-Wall Vessel Bioreactors
  Stem Cell Reports.   |   Pubmed ID: 29233554
• Molecular Anatomy of the Developing Human Retina
  Developmental Cell.   |   Pubmed ID: 29233477
• Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration
  Ophthalmology.   |   Pubmed ID: 29224928
• 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.   |   Pubmed ID: 29096998
• Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 28863214
• EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
  Genes.   |   Pubmed ID: 28704921
• In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations
  Cell Reports.   |   Pubmed ID: 28700940
• Pias3 is Necessary for Dorso-ventral Patterning and Visual Response of Retinal Cones but is Not Required for Rod Photoreceptor Differentiation
  Biology Open.   |   Pubmed ID: 28495965
• Whole-Exome Sequencing Identifies Biallelic IDH3A Variants As a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
  Ophthalmology.   |   Pubmed ID: 28412069
• REEP6 Mediates Trafficking of a Subset of Clathrin-coated Vesicles and is Critical for Rod Photoreceptor Function and Survival
  Human Molecular Genetics.   |   Pubmed ID: 28369466
• Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores
  Genetics.   |   Pubmed ID: 28341650
• Nrl Knockdown by AAV-delivered CRISPR/Cas9 Prevents Retinal Degeneration in Mice
  Nature Communications.   |   Pubmed ID: 28291770
• Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 27898983
• NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors
  Cell Reports.   |   Pubmed ID: 27880916
• Transcriptome Profiling of NIH3T3 Cell Lines Expressing Opsin and the P23H Opsin Mutant Identifies Candidate Drugs for the Treatment of Retinitis Pigmentosa
  Pharmacological Research.   |   Pubmed ID: 27838510
• Variegated Yet Non-random Rod and Cone Photoreceptor Disease Patterns in RPGR-ORF15-associated Retinal Degeneration
  Human Molecular Genetics.   |   Pubmed ID: 27798110
• Rapid, Dynamic Activation of Müller Glial Stem Cell Responses in Zebrafish
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 27699411
• Next-generation Genotype Imputation Service and Methods
  Nature Genetics.   |   Pubmed ID: 27571263
• The Cellular and Compartmental Profile of Mouse Retinal Glycolysis, Tricarboxylic Acid Cycle, Oxidative Phosphorylation, and ~P Transferring Kinases
  Molecular Vision.   |   Pubmed ID: 27499608
• Synergistically Acting Agonists and Antagonists of G Protein-coupled Receptors Prevent Photoreceptor Cell Degeneration
  Science Signaling.   |   Pubmed ID: 27460988
• Next Generation Sequencing Technology and Genomewide Data Analysis: Perspectives for Retinal Research
  Progress in Retinal and Eye Research.   |   Pubmed ID: 27297499
• Loss of RPGR Glutamylation Underlies the Pathogenic Mechanism of Retinal Dystrophy Caused by TTLL5 Mutations
  Proceedings of the National Academy of Sciences of the United States of America.   |   Pubmed ID: 27162334
• Treatment Paradigms for Retinal and Macular Diseases Using 3-D Retina Cultures Derived From Human Reporter Pluripotent Stem Cell Lines
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 27116668
• Centrosomal Protein CP110 Controls Maturation of the Mother Centriole During Cilia Biogenesis
  Development (Cambridge, England).   |   Pubmed ID: 26965371
• Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 26962691
• Genetic Components in Diabetic Retinopathy
  Indian Journal of Ophthalmology.   |   Pubmed ID: 26953025
• Increased Retinal MtDNA Damage in the CFH Variant Associated with Age-related Macular Degeneration
  Experimental Eye Research.   |   Pubmed ID: 26854823
• Gene-Based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions
  Genetic Epidemiology.   |   Pubmed ID: 26782979
• Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
  Scientific Reports.   |   Pubmed ID: 26306921
• Transcriptome Dynamics of Developing Photoreceptors in Three-Dimensional Retina Cultures Recapitulates Temporal Sequence of Human Cone and Rod Differentiation Revealing Cell Surface Markers and Gene Networks
  Stem Cells (Dayton, Ohio).   |   Pubmed ID: 26235913
• 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
  Human Mutation.   |   Pubmed ID: 26077327
• Differential DNA Methylation Identified in the Blood and Retina of AMD Patients
  Epigenetics.   |   Pubmed ID: 26067391
• Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-related Macular Degeneration
  PloS One.   |   Pubmed ID: 25962167
• A Long-term Efficacy Study of Gene Replacement Therapy for RPGR-associated Retinal Degeneration
  Human Molecular Genetics.   |   Pubmed ID: 25877300
• 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.   |   Pubmed ID: 25668385
• Biology and Therapy of Inherited Retinal Degenerative Disease: Insights from Mouse Models
  Disease Models & Mechanisms.   |   Pubmed ID: 25650393
• Whole Exome Sequencing Reveals GUCY2D As a Major Gene Associated with Cone and Cone-rod Dystrophy in Israel
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 25515582
• Deletion of Aryl Hydrocarbon Receptor AHR in Mice Leads to Subretinal Accumulation of Microglia and RPE Atrophy
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 25159211
• No Clinically Significant Association Between CFH and ARMS2 Genotypes and Response to Nutritional Supplements: AREDS Report Number 38
  Ophthalmology.   |   Pubmed ID: 24974817
• Age-related Macular Degeneration: Genetics and Biology Coming Together
  Annual Review of Genomics and Human Genetics.   |   Pubmed ID: 24773320
• Regulation of a Novel Isoform of Receptor Expression Enhancing Protein REEP6 in Rod Photoreceptors by BZIP Transcription Factor NRL
  Human Molecular Genetics.   |   Pubmed ID: 24691551
• Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy
  PloS One.   |   Pubmed ID: 24671090
• Ancestry Estimation and Control of Population Stratification for Sequence-based Association Studies
  Nature Genetics.   |   Pubmed ID: 24633160
• OTX2 Loss Causes Rod Differentiation Defect in CRX-associated Congenital Blindness
  The Journal of Clinical Investigation.   |   Pubmed ID: 24382353
• Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes is Not a Hallmark of Age-related Macular Degeneration
  Cell Reports.   |   Pubmed ID: 24373284
• The Transcription-splicing Protein NonO/p54nrb and Three NonO-interacting Proteins Bind to Distal Enhancer Region and Augment Rhodopsin Expression
  Human Molecular Genetics.   |   Pubmed ID: 24301678
• Development and Plasticity of Outer Retinal Circuitry Following Genetic Removal of Horizontal Cells
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience.   |   Pubmed ID: 24198374
• Genetic Architecture of Retinal and Macular Degenerative Diseases: the Promise and Challenges of Next-generation Sequencing
  Genome Medicine.   |   Pubmed ID: 24112618
• Genome-wide Association Study and Meta-analysis of Intraocular Pressure
  Human Genetics.   |   Pubmed ID: 24002674
• Ablation of the X-linked Retinitis Pigmentosa 2 (Rp2) Gene in Mice Results in Opsin Mislocalization and Photoreceptor Degeneration
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 23745007
• Phenotypic Conservation in Patients with X-linked Retinitis Pigmentosa Caused by RPGR Mutations
  JAMA Ophthalmology.   |   Pubmed ID: 23681342
• Gene Expression Changes in Aging Retinal Microglia: Relationship to Microglial Support Functions and Regulation of Activation
  Neurobiology of Aging.   |   Pubmed ID: 23608111
• Developing Rods Transplanted into the Degenerating Retina of Crx-knockout Mice Exhibit Neural Activity Similar to Native Photoreceptors
  Stem Cells (Dayton, Ohio).   |   Pubmed ID: 23495178
• What's in a Name? RPGR Mutations Redefine the Genetic and Phenotypic Landscape in Retinal Degenerative Diseases
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 23423174
• Prickle1 is Expressed in Distinct Cell Populations of the Central Nervous System and Contributes to Neuronal Morphogenesis
  Human Molecular Genetics.   |   Pubmed ID: 23420014
• Photoreceptor Sensory Cilia and Ciliopathies: Focus on CEP290, RPGR and Their Interacting Proteins
  Cilia.   |   Pubmed ID: 23351659
• A Role for Prenylated Rab Acceptor 1 in Vertebrate Photoreceptor Development
  BMC Neuroscience.   |   Pubmed ID: 23241222
• Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 23150612
• Genetic Studies of Age-related Macular Degeneration: Lessons, Challenges, and Opportunities for Disease Management
  Ophthalmology.   |   Pubmed ID: 23009893
• Determination of Posttranslational Modifications of Photoreceptor Differentiation Factor NRL: Focus on SUMOylation
  Methods in Molecular Biology (Clifton, N.J.).   |   Pubmed ID: 22688719
• Exome Sequencing: Capture and Sequencing of All Human Coding Regions for Disease Gene Discovery
  Methods in Molecular Biology (Clifton, N.J.).   |   Pubmed ID: 22688718
• Retinal Transcriptome Profiling by Directional Next-generation Sequencing Using 100 Ng of Total RNA
  Methods in Molecular Biology (Clifton, N.J.).   |   Pubmed ID: 22688717
• Transcriptome Analysis Using Next Generation Sequencing Reveals Molecular Signatures of Diabetic Retinopathy and Efficacy of Candidate Drugs
  Molecular Vision.   |   Pubmed ID: 22605924
• Rd9 is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15
  PloS One.   |   Pubmed ID: 22563472
• Minireview: the Role of Nuclear Receptors in Photoreceptor Differentiation and Disease
  Molecular Endocrinology (Baltimore, Md.).   |   Pubmed ID: 22556342
• Long-term Survival and Differentiation of Retinal Neurons Derived from Human Embryonic Stem Cell Lines in Un-immunosuppressed Mouse Retina
  Molecular Vision.   |   Pubmed ID: 22539871
• Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects
  PloS One.   |   Pubmed ID: 22479622
• Protective Gene Expression Changes Elicited by an Inherited Defect in Photoreceptor Structure
  PloS One.   |   Pubmed ID: 22363631
• Preservation of Cone Photoreceptors After a Rapid Yet Transient Degeneration and Remodeling in Cone-only Nrl-/- Mouse Retina
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience.   |   Pubmed ID: 22238088
• Regulation of Retinal Progenitor Expansion by Frizzled Receptors: Implications for Microphthalmia and Retinal Coloboma
  Human Molecular Genetics.   |   Pubmed ID: 22228100
• Next-generation Sequencing Facilitates Quantitative Analysis of Wild-type and Nrl(-/-) Retinal Transcriptomes
  Molecular Vision.   |   Pubmed ID: 22162623
• Global Expression Profiling of Peripheral Qa-1-restricted CD8αα+TCRαβ+ Regulatory T Cells Reveals Innate-like Features: Implications for Immune-regulatory Repertoire
  Human Immunology.   |   Pubmed ID: 21889557
• Excess Cones in the Retinal Degeneration Rd7 Mouse, Caused by the Loss of Function of Orphan Nuclear Receptor Nr2e3, Originate from Early-born Photoreceptor Precursors
  Human Molecular Genetics.   |   Pubmed ID: 21813656
• Ciliary Neurotrophic Factor Induces Genes Associated with Inflammation and Gliosis in the Retina: a Gene Profiling Study of Flow-sorted, Müller Cells
  PloS One.   |   Pubmed ID: 21637858
• Cone Photoreceptors Are the Main Targets for Gene Therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) Blindness: Generation of an All-cone Nphp6 Hypomorph Mouse That Mimics the Human Retinal Ciliopathy
  Human Molecular Genetics.   |   Pubmed ID: 21245082
• TOPORS, Implicated in Retinal Degeneration, is a Cilia-centrosomal Protein
  Human Molecular Genetics.   |   Pubmed ID: 21159800
• Genetic Association Study of Age-related Macular Degeneration in the Spanish Population
  Acta Ophthalmologica.   |   Pubmed ID: 21106043
• Distinct Signature of Altered Homeostasis in Aging Rod Photoreceptors: Implications for Retinal Diseases
  PloS One.   |   Pubmed ID: 21079736
• XIAP Therapy Increases Survival of Transplanted Rod Precursors in a Degenerating Host Retina
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 20926819
• Loss of Lysophosphatidylcholine Acyltransferase 1 Leads to Photoreceptor Degeneration in Rd11 Mice
  Proceedings of the National Academy of Sciences of the United States of America.   |   Pubmed ID: 20713727
• Age-related Macular Degeneration-associated Variants at Chromosome 10q26 Do Not Significantly Alter ARMS2 and HTRA1 Transcript Levels in the Human Retina
  Molecular Vision.   |   Pubmed ID: 20664794
• Transcriptional Regulation of Photoreceptor Development and Homeostasis in the Mammalian Retina
  Nature Reviews. Neuroscience.   |   Pubmed ID: 20648062
• Interaction of Retinitis Pigmentosa GTPase Regulator (RPGR) with RAB8A GTPase: Implications for Cilia Dysfunction and Photoreceptor Degeneration
  Human Molecular Genetics.   |   Pubmed ID: 20631154
• RP2 Phenotype and Pathogenetic Correlations in X-linked Retinitis Pigmentosa
  Archives of Ophthalmology (Chicago, Ill. : 1960).   |   Pubmed ID: 20625056
• Associations of CFHR1-CFHR3 Deletion and a CFH SNP to Age-related Macular Degeneration Are Not Independent
  Nature Genetics.   |   Pubmed ID: 20581873
• Two Novel CRX Mutant Proteins Causing Autosomal Dominant Leber Congenital Amaurosis Interact Differently with NRL
  Human Mutation.   |   Pubmed ID: 20513135
• RPGR-containing Protein Complexes in Syndromic and Non-syndromic Retinal Degeneration Due to Ciliary Dysfunction
  Journal of Genetics.   |   Pubmed ID: 20090203
• Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 20042663
• MicroRNA Profile of the Developing Mouse Retina
  Investigative Ophthalmology & Visual Science.   |   Pubmed ID: 19933188
• A Comprehensive Analysis of Sequence Variants and Putative Disease-causing Mutations in Photoreceptor-specific Nuclear Receptor NR2E3
  Molecular Vision.   |   Pubmed ID: 19898638
• Human Retinopathy-associated Ciliary Protein Retinitis Pigmentosa GTPase Regulator Mediates Cilia-dependent Vertebrate Development
  Human Molecular Genetics.   |   Pubmed ID: 19815619
• Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-dominant Retinitis Pigmentosa
  American Journal of Human Genetics.   |   Pubmed ID: 19520207
• Unraveling a Multifactorial Late-onset Disease: from Genetic Susceptibility to Disease Mechanisms for Age-related Macular Degeneration
  Annual Review of Genomics and Human Genetics.   |   Pubmed ID: 19405847
• Canine RD3 Mutation Establishes Rod-cone Dysplasia Type 2 (rcd2) As Ortholog of Human and Murine Rd3
  Mammalian Genome : Official Journal of the International Mammalian Genome Society.   |   Pubmed ID: 19130129
• CP110 Suppresses Primary Cilia Formation Through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease
  Developmental Cell.   |   Pubmed ID: 18694559
• A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-linked Retinitis Pigmentosa
  American Journal of Human Genetics.   |   Pubmed ID: 11992260
• Lens-specific Gene Recruitment of Zeta-crystallin Through Pax6, Nrl-Maf, and Brain Suppressor Sites
  Molecular and Cellular Biology.   |   Pubmed ID: 9528779