Anand Swaroop

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.

Lens-specific gene recruitment of zeta-crystallin through Pax6, Nrl-Maf, and brain suppressor sites.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls.

Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors.

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Rdh12 activity and effects on retinoid processing in the murine retina.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development.

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

MicroRNA profile of the developing mouse retina.

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent.

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.

Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina.

Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.

XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina.

Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases.

Genetic association study of age-related macular degeneration in the Spanish population.

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

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.

Distinct nuclear localization patterns of DNA methyltransferases in developing and mature mammalian retina.

Ciliary neurotrophic factor induces genes associated with inflammation and gliosis in the retina: a gene profiling study of flow-sorted, Müller cells.

Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis.

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.

Two transcription factors can direct three photoreceptor outcomes from rod precursor cells in mouse retinal development.

The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter.

Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.

Global expression profiling of peripheral Qa-1-restricted CD8αα+TCRαβ+ regulatory T cells reveals innate-like features: implications for immune-regulatory repertoire.

Complement factor D in age-related macular degeneration.

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.

Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes.

Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma.

Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina.

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.

Protective gene expression changes elicited by an inherited defect in photoreceptor structure.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.

Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis.

Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retina.

Minireview: the role of nuclear receptors in photoreceptor differentiation and disease.

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.

Transcriptome analysis using next generation sequencing reveals molecular signatures of diabetic retinopathy and efficacy of candidate drugs.

Retinal transcriptome profiling by directional next-generation sequencing using 100 ng of total RNA.

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.

Determination of posttranslational modifications of photoreceptor differentiation factor NRL: focus on SUMOylation.

RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model.

Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

A role for prenylated rab acceptor 1 in vertebrate photoreceptor development.

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.

Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis.

Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.

What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases.

Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors.

Gene expression changes in aging retinal microglia: relationship to microglial support functions and regulation of activation.

An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons.

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration.

Genome-wide association study and meta-analysis of intraocular pressure.

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.

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

Development and plasticity of outer retinal circuitry following genetic removal of horizontal cells.

The transcription-splicing protein NonO/p54nrb and three NonO-interacting proteins bind to distal enhancer region and augment rhodopsin expression.

Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration.

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.

Ancestry estimation and control of population stratification for sequence-based association studies.

Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL.

Age-related macular degeneration: genetics and biology coming together.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis.

No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38.

Deletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy.

Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a.

Feedback induction of a photoreceptor-specific isoform of retinoid-related orphan nuclear receptor β by the rod transcription factor NRL.

The transcription factor GTF2IRD1 regulates the topology and function of photoreceptors by modulating photoreceptor gene expression across the retina.

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

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

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.

A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.

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

Differential DNA methylation identified in the blood and retina of AMD patients.

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.

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.

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria.

Gene-Based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions.

Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration.

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

Genetic components in diabetic retinopathy.

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis.

Treatment Paradigms for Retinal and Macular Diseases Using 3-D Retina Cultures Derived From Human Reporter Pluripotent Stem Cell Lines.

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.

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

Recruitment of Rod Photoreceptors from Short-Wavelength-Sensitive Cones during the Evolution of Nocturnal Vision in Mammals.

Synergistically acting agonists and antagonists of G protein-coupled receptors prevent photoreceptor cell degeneration.

The cellular and compartmental profile of mouse retinal glycolysis, tricarboxylic acid cycle, oxidative phosphorylation, and ~P transferring kinases.

A reference panel of 64,976 haplotypes for genotype imputation.

Next-generation genotype imputation service and methods.

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Three-dimensional retinal organoids from mouse pluripotent stem cells mimic development with enhanced stratification and rod photoreceptor differentiation.

Rapid, Dynamic Activation of Müller Glial Stem Cell Responses in Zebrafish.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Transcriptome profiling of NIH3T3 cell lines expressing opsin and the P23H opsin mutant identifies candidate drugs for the treatment of retinitis pigmentosa.

NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors.

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

Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice.

Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores.

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

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

Pias3 is necessary for dorso-ventral patterning and visual response of retinal cones but is not required for rod photoreceptor differentiation.

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.

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

Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL.

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.

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

Molecular Anatomy of the Developing Human Retina.

Accelerated and Improved Differentiation of Retinal Organoids from Pluripotent Stem Cells in Rotating-Wall Vessel Bioreactors.

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

RNA Biology in Retinal Development and Disease.

Epigenetic control of gene regulation during development and disease: A view from the retina.

Determination of Mitochondrial Oxygen Consumption in the Retina Ex Vivo: Applications for Retinal Disease.

Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.

Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.

Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina.

Molecular dissection of cone photoreceptor-enriched genes encoding transmembrane and secretory proteins.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration.

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.

Mini and customized low-cost bioreactors for optimized high-throughput generation of tissue organoids.

Mitochondrial Respiration in Outer Retina Contributes to Light-Evoked Increase in Hydration In Vivo.

Retinal transcriptome and eQTL analyses identify genes associated with 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.

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

Age-related changes of the retinal microvasculature.

Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.

Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.

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.

Improved Retinal Organoid Differentiation by Modulating Signaling Pathways Revealed by Comparative Transcriptome Analyses with Development In Vivo.

SSBP1 faux pas in mitonuclear tango causes optic neuropathy.

Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies.

Transcriptome-based molecular staging of human stem cell-derived retinal organoids uncovers accelerated photoreceptor differentiation by 9-cis retinal.

Expression of deubiquitinating enzyme genes in the developing mammal retina.

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A simple and efficient method for generating human retinal organoids.

Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression.

Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.

Deep-learning-based Prediction of Late Age-Related Macular Degeneration Progression.

Adherence to a Mediterranean diet and cognitive function in the Age-Related Eye Disease Studies 1 & 2.

Genome-wide Profiling Identifies DNA Methylation Signatures of Aging in Rod Photoreceptors Associated with Alterations in Energy Metabolism.

Adherence to the Mediterranean Diet and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.

Pharmacologic fibroblast reprogramming into photoreceptors restores vision.

A unique -associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique variant.

Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies.

Retinal pigment epithelium transcriptome analysis in chronic smoking reveals a suppressed innate immune response and activation of differentiation pathways.

Soy Protein Nanofiber Scaffolds for Uniform Maturation of Human Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium.

Accelerated Development of Rod Photoreceptors in Retinal Organoids Derived from Human Pluripotent Stem Cells by Supplementation with 9- Retinal.

Primary cilia biogenesis and associated retinal ciliopathies.

HIPRO: A High-Efficiency, Hypoxia-Induced Protocol for Generation of Photoreceptors in Retinal Organoids from Mouse Pluripotent Stem Cells.

Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.

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

An optimized protocol for retina single-cell RNA sequencing.

Divergent Effects of HSP70 Overexpression in Photoreceptors During Inherited Retinal Degeneration.

Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes.

Methylation of two-component response regulator MtrA in mycobacteria negatively modulates its DNA binding and transcriptional activation.

Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration.

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids.

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

Genetics and therapy for pediatric eye diseases.

Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk.

Aging of the Retina: Molecular and Metabolic Turbulences and Potential Interventions.