Anand Swaroop

Neurobiology, National Institutes of Health

Affiliated withNational Institutes of Health

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 6	2021

Other Publications

Article	Year
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
Lens-specific gene recruitment of zeta-crystallin through Pax6, Nrl-Maf, and brain suppressor sites. Molecular and cellular biology\| PubMed ID: 9528779
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
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\| PubMed ID: 17471344	2006
Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain research\| PubMed ID: 18294621	2008
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Developmental cell\| PubMed ID: 18694559
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
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
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature genetics\| PubMed ID: 19430481	2009
Rdh12 activity and effects on retinoid processing in the murine retina. The Journal of biological chemistry\| PubMed ID: 19506076	2009
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. American journal of human genetics\| PubMed ID: 19520207
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\| PubMed ID: 19805139	2009
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Human molecular genetics\| PubMed ID: 19815619
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. Molecular vision\| PubMed ID: 19898638
MicroRNA profile of the developing mouse retina. Investigative ophthalmology & visual science\| PubMed ID: 19933188
Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1. Investigative ophthalmology & visual science\| PubMed ID: 20042663
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. Journal of genetics\| PubMed ID: 20090203
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\| PubMed ID: 20385819	2010
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human mutation\| PubMed ID: 20513135
Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation. The Journal of biological chemistry\| PubMed ID: 20551322	2010
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nature genetics\| PubMed ID: 20581873
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960)\| PubMed ID: 20625056
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Human molecular genetics\| PubMed ID: 20631154
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina. Nature reviews. Neuroscience\| PubMed ID: 20648062
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
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
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Human molecular genetics\| PubMed ID: 20729296	2010
XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina. Investigative ophthalmology & visual science\| PubMed ID: 20926819
Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases. PloS one\| PubMed ID: 21079736
Genetic association study of age-related macular degeneration in the Spanish population. Acta ophthalmologica\| PubMed ID: 21106043
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Human molecular genetics\| PubMed ID: 21159800
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 ciliopat... Human molecular genetics\| PubMed ID: 21245082
Distinct nuclear localization patterns of DNA methyltransferases in developing and mature mammalian retina. The Journal of comparative neurology\| PubMed ID: 21452232	2011
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
Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis. The Journal of biological chemistry\| PubMed ID: 21673114	2011
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
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\| PubMed ID: 21813673	2011
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\| PubMed ID: 21849497	2011
Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Investigative ophthalmology & visual science\| PubMed ID: 21873659	2011
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Human mutation\| PubMed ID: 21882290	2011
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
Complement factor D in age-related macular degeneration. Investigative ophthalmology & visual science\| PubMed ID: 22003108	2011
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PloS one\| PubMed ID: 22022419	2011
Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes. Molecular vision\| PubMed ID: 22162623
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. Human molecular genetics\| PubMed ID: 22228100
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
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. International journal of epidemiology\| PubMed ID: 22253316	2012
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\| PubMed ID: 22308428	2012
Protective gene expression changes elicited by an inherited defect in photoreceptor structure. PloS one\| PubMed ID: 22363631
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. The Journal of clinical investigation\| PubMed ID: 22446187	2012
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. PloS one\| PubMed ID: 22479622
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. PLoS genetics\| PubMed ID: 22511886	2012
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
Minireview: the role of nuclear receptors in photoreceptor differentiation and disease. Molecular endocrinology (Baltimore, Md.)\| PubMed ID: 22556342
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
Transcriptome analysis using next generation sequencing reveals molecular signatures of diabetic retinopathy and efficacy of candidate drugs. Molecular vision\| PubMed ID: 22605924
Retinal transcriptome profiling by directional next-generation sequencing using 100 ng of total RNA. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22688717
Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22688718
Determination of posttranslational modifications of photoreceptor differentiation factor NRL: focus on SUMOylation. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22688719
RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model. Investigative ophthalmology & visual science\| PubMed ID: 22807293	2012
Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management. Ophthalmology\| PubMed ID: 23009893
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative ophthalmology & visual science\| PubMed ID: 23150612
A role for prenylated rab acceptor 1 in vertebrate photoreceptor development. BMC neuroscience\| PubMed ID: 23241222
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia\| PubMed ID: 23351659
Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis. Development (Cambridge, England)\| PubMed ID: 23406904	2013
Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis. Human molecular genetics\| PubMed ID: 23420014
What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases. Investigative ophthalmology & visual science\| PubMed ID: 23423174
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
Gene expression changes in aging retinal microglia: relationship to microglial support functions and regulation of activation. Neurobiology of aging\| PubMed ID: 23608111
An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons. Nature communications\| PubMed ID: 23652001	2013
Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations. JAMA ophthalmology\| PubMed ID: 23681342
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
Genome-wide association study and meta-analysis of intraocular pressure. Human genetics\| PubMed ID: 24002674
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nature genetics\| PubMed ID: 24036949	2013
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome medicine\| PubMed ID: 24112618
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
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
Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration. Cell reports\| PubMed ID: 24373284
OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. The Journal of clinical investigation\| PubMed ID: 24382353
Ancestry estimation and control of population stratification for sequence-based association studies. Nature genetics\| PubMed ID: 24633160
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
Age-related macular degeneration: genetics and biology coming together. Annual review of genomics and human genetics\| PubMed ID: 24773320
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human molecular genetics\| PubMed ID: 24899048	2014
Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. Nature communications\| PubMed ID: 24947469	2014
No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38. Ophthalmology\| PubMed ID: 24974817
Deletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy. Investigative ophthalmology & visual science\| PubMed ID: 25159211
Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a. Biology open\| PubMed ID: 25190059	2014
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\| PubMed ID: 25296752	2014
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\| PubMed ID: 25392503	2014
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
Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Disease models & mechanisms\| PubMed ID: 25650393
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
CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies. Human molecular genetics\| PubMed ID: 25859007	2015
A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. Human molecular genetics\| PubMed ID: 25877300
Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration. PloS one\| PubMed ID: 25962167
Differential DNA methylation identified in the blood and retina of AMD patients. Epigenetics\| PubMed ID: 26067391
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
Transcriptome Dynamics of Developing Photoreceptors in Three-Dimensional Retina Cultures Recapitulates Temporal Sequence of Human Cone and Rod Differentiation Revealing Cell Surface Markers ... Stem cells (Dayton, Ohio)\| PubMed ID: 26235913
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
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. Human molecular genetics\| PubMed ID: 26358772	2015
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature genetics\| PubMed ID: 26691988	2016
Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria. Investigative ophthalmology & visual science\| PubMed ID: 26747773	2015
Gene-Based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions. Genetic epidemiology\| PubMed ID: 26782979
Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration. Experimental eye research\| PubMed ID: 26854823
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. Human molecular genetics\| PubMed ID: 26908622	2016
Genetic components in diabetic retinopathy. Indian journal of ophthalmology\| PubMed ID: 26953025
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. Investigative ophthalmology & visual science\| PubMed ID: 26962691
Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis. Development (Cambridge, England)\| PubMed ID: 26965371
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
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
Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research. Progress in retinal and eye research\| PubMed ID: 27297499
Recruitment of Rod Photoreceptors from Short-Wavelength-Sensitive Cones during the Evolution of Nocturnal Vision in Mammals. Developmental cell\| PubMed ID: 27326930	2016
Synergistically acting agonists and antagonists of G protein-coupled receptors prevent photoreceptor cell degeneration. Science signaling\| PubMed ID: 27460988
The cellular and compartmental profile of mouse retinal glycolysis, tricarboxylic acid cycle, oxidative phosphorylation, and ~P transferring kinases. Molecular vision\| PubMed ID: 27499608
A reference panel of 64,976 haplotypes for genotype imputation. Nature genetics\| PubMed ID: 27548312	2016
Next-generation genotype imputation service and methods. Nature genetics\| PubMed ID: 27571263
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. American journal of human genetics\| PubMed ID: 27588452	2016
Three-dimensional retinal organoids from mouse pluripotent stem cells mimic development with enhanced stratification and rod photoreceptor differentiation. Molecular vision\| PubMed ID: 27667917	2016
Rapid, Dynamic Activation of Müller Glial Stem Cell Responses in Zebrafish. Investigative ophthalmology & visual science\| PubMed ID: 27699411
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Human molecular genetics\| PubMed ID: 27798110
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
NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors. Cell reports\| PubMed ID: 27880916
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. Investigative ophthalmology & visual science\| PubMed ID: 27898983
Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice. Nature communications\| PubMed ID: 28291770
Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores. Genetics\| PubMed ID: 28341650
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
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology\| PubMed ID: 28412069
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
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. Cell reports\| PubMed ID: 28700940
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes\| PubMed ID: 28704921
Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL. Investigative ophthalmology & visual science\| PubMed ID: 28863214
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
Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration. Ophthalmology\| PubMed ID: 29224928
Molecular Anatomy of the Developing Human Retina. Developmental cell\| PubMed ID: 29233477
Accelerated and Improved Differentiation of Retinal Organoids from Pluripotent Stem Cells in Rotating-Wall Vessel Bioreactors. Stem cell reports\| PubMed ID: 29233554
Genome-wide analysis of disease progression in age-related macular degeneration. Human molecular genetics\| PubMed ID: 29346644
RNA Biology in Retinal Development and Disease. Trends in genetics : TIG\| PubMed ID: 29395379
Epigenetic control of gene regulation during development and disease: A view from the retina. Progress in retinal and eye research\| PubMed ID: 29544768
Determination of Mitochondrial Oxygen Consumption in the Retina Ex Vivo: Applications for Retinal Disease. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 29564788
Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I. Human molecular genetics\| PubMed ID: 30052969
Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16. Ophthalmology\| PubMed ID: 30060980
Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina. Human molecular genetics\| PubMed ID: 30084954
Molecular dissection of cone photoreceptor-enriched genes encoding transmembrane and secretory proteins. Journal of neuroscience research\| PubMed ID: 30260491
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Human molecular genetics\| PubMed ID: 30285110
A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration. Cell reports\| PubMed ID: 30332642
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
Mini and customized low-cost bioreactors for optimized high-throughput generation of tissue organoids. Stem cell investigation\| PubMed ID: 30498744
Mitochondrial Respiration in Outer Retina Contributes to Light-Evoked Increase in Hydration In Vivo. Investigative ophthalmology & visual science\| PubMed ID: 30551203
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. Nature genetics\| PubMed ID: 30742112
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\| PubMed ID: 30820144	2019
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Acta ophthalmologica\| PubMed ID: 30925032
Age-related changes of the retinal microvasculature. PloS one\| PubMed ID: 31048908
Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. Nature genetics\| PubMed ID: 31068672
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
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 E... Ophthalmology\| PubMed ID: 31358387
Improved Retinal Organoid Differentiation by Modulating Signaling Pathways Revealed by Comparative Transcriptome Analyses with Development In Vivo. Stem cell reports\| PubMed ID: 31631019
SSBP1 faux pas in mitonuclear tango causes optic neuropathy. The Journal of clinical investigation\| PubMed ID: 31738184
Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies. Translational science of rare diseases\| PubMed ID: 31763178
Transcriptome-based molecular staging of human stem cell-derived retinal organoids uncovers accelerated photoreceptor differentiation by 9-cis retinal. Molecular vision\| PubMed ID: 31814692
Expression of deubiquitinating enzyme genes in the developing mammal retina. Molecular vision\| PubMed ID: 31819342
Reply. Ophthalmology\| PubMed ID: 32087877
A simple and efficient method for generating human retinal organoids. Molecular vision\| PubMed ID: 32174751
Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression. Molecular biology and evolution\| PubMed ID: 32191319
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. Scientific reports\| PubMed ID: 32214115
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. Human molecular genetics\| PubMed ID: 32246154
Deep-learning-based Prediction of Late Age-Related Macular Degeneration Progression. Nature machine intelligence\| PubMed ID: 32285025
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
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 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
Pharmacologic fibroblast reprogramming into photoreceptors restores vision. Nature\| PubMed ID: 32376950
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
Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies. Stem cells (Dayton, Ohio)\| PubMed ID: 32506758
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
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
Accelerated Development of Rod Photoreceptors in Retinal Organoids Derived from Human Pluripotent Stem Cells by Supplementation with 9- Retinal. STAR protocols\| PubMed ID: 32728670
Primary cilia biogenesis and associated retinal ciliopathies. Seminars in cell & developmental biology\| PubMed ID: 32747192
HIPRO: A High-Efficiency, Hypoxia-Induced Protocol for Generation of Photoreceptors in Retinal Organoids from Mouse Pluripotent Stem Cells. STAR protocols\| PubMed ID: 32754720
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
A mega-analysis of expression quantitative trait loci in retinal tissue. PLoS genetics\| PubMed ID: 32870927
An optimized protocol for retina single-cell RNA sequencing. Molecular vision\| PubMed ID: 33088174
Divergent Effects of HSP70 Overexpression in Photoreceptors During Inherited Retinal Degeneration. Investigative ophthalmology & visual science\| PubMed ID: 33107904
Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes. eLife\| PubMed ID: 33164750
Methylation of two-component response regulator MtrA in mycobacteria negatively modulates its DNA binding and transcriptional activation. The Biochemical journal\| PubMed ID: 33175092
Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration. PLoS genetics\| PubMed ID: 33362196
Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids. Stem cell reports\| PubMed ID: 33513359
Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration. Advances in experimental medicine and biology\| PubMed ID: 33848003	2021
Genetics and therapy for pediatric eye diseases. EBioMedicine\| PubMed ID: 33975254	2021
Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk. Translational vision science & technology\| PubMed ID: 34003914	2021
Aging of the Retina: Molecular and Metabolic Turbulences and Potential Interventions. Annual review of vision science\| PubMed ID: 34061570	2021

Article	Year
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
Lens-specific gene recruitment of zeta-crystallin through Pax6, Nrl-Maf, and brain suppressor sites. Molecular and cellular biology\| PubMed ID: 9528779
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
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\| PubMed ID: 17471344	2006
Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain research\| PubMed ID: 18294621	2008
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Developmental cell\| PubMed ID: 18694559
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
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
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature genetics\| PubMed ID: 19430481	2009
Rdh12 activity and effects on retinoid processing in the murine retina. The Journal of biological chemistry\| PubMed ID: 19506076	2009
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. American journal of human genetics\| PubMed ID: 19520207
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\| PubMed ID: 19805139	2009
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Human molecular genetics\| PubMed ID: 19815619
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. Molecular vision\| PubMed ID: 19898638
MicroRNA profile of the developing mouse retina. Investigative ophthalmology & visual science\| PubMed ID: 19933188
Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1. Investigative ophthalmology & visual science\| PubMed ID: 20042663
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. Journal of genetics\| PubMed ID: 20090203
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\| PubMed ID: 20385819	2010
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human mutation\| PubMed ID: 20513135
Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation. The Journal of biological chemistry\| PubMed ID: 20551322	2010
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nature genetics\| PubMed ID: 20581873
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960)\| PubMed ID: 20625056
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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\| PubMed ID: 25392503	2014
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