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Author Details

Rando Allikmets
Columbia University Medical Center
1985
250
68
PMIDPaper TitleJournal TitlePublished Year
37093133Insights Into PROM1-Macular Disease Using Multimodal Imaging.Invest Ophthalmol Vis Sci2023
37126335Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.Transl Vis Sci Technol2023
37115691iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.J Clin Invest2023
37115124Re: Agrón et al.: Reticular pseudodrusen status, ARMS2/HTRA1 genotype, and geographic atrophy enlargement: Age-Related Eye Disease Study 2 Report 32. (Ophthalmology. 2022;129:1107-1119).Ophthalmology2023
32927963A mutation in <i>CRX</i> causing pigmented paravenous retinochoroidal atrophy.Eur J Ophthalmol2022
35353811Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.PLoS Genet2022
35642569The human ATP-binding cassette (ABC) transporter superfamily.Hum Mutat2022
35365235Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.Orphanet J Rare Dis2022
35413457Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.Ophthalmol Retina2022
36455383Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture.Stem Cell Res2022
36108770Systems genomics in age-related macular degeneration.Exp Eye Res2022
36264634A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.JCI Insight2022
35089312Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.Transl Vis Sci Technol2022
34874912A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.JCI Insight2022
34115091Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.Invest Ophthalmol Vis Sci2021
33909047Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.Hum Mol Genet2021
33792637Reevaluating the Association of Sex With ABCA4 Alleles in Patients With Stargardt Disease.JAMA Ophthalmol2021
33654266Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.Commun Biol2021
33758422Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.Nat Metab2021
33505770Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.Transl Vis Sci Technol2021
33837246Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.Commun Biol2021
34216551Targeted long-read sequencing identifies missing disease-causing variation.Am J Hum Genet2021
32265282Mapping the <i>cis</i>-regulatory architecture of the human retina reveals noncoding genetic variation in disease.Proc Natl Acad Sci U S A2020
32445700Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.Am J Ophthalmol2020
32278709Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Prog Retin Eye Res2020
32298433Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.Invest Ophthalmol Vis Sci2020
29701254Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.J Neurosci Res2019
30204727CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.Retina2019
31181178Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.Am J Ophthalmol2019
31576780Modification of the <i>PROM1</i> disease phenotype by a mutation in <i>ABCA4</i>.Ophthalmic Genet2019
31509666Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.N Engl J Med2019
30926958A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.Genet Med2019
31015497Multi-platform imaging in ABCA4-Associated Disease.Sci Rep2019
31136651Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Invest Ophthalmol Vis Sci2019
30630813Late-onset pattern macular dystrophy mimicking <i>ABCA4</i> and <i>PRPH2</i> disease is caused by a homozygous frameshift mutation in <i>ROM1</i>.Cold Spring Harb Mol Case Stud2019
30696906Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration.Sci Rep2019
28947085The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Ophthalmology2018
30055151Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.Am J Ophthalmol2018
30128159Non-congenital severe ocular complications of Zika virus infection.JMM Case Rep2018
29848554Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes.Cold Spring Harb Mol Case Stud2018
29871924A non-retinoid antagonist of retinol-binding protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle.J Biol Chem2018
29847651Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.Invest Ophthalmol Vis Sci2018
29896405Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients.JMM Case Rep2018
30323937Corrigendum: Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients.JMM Case Rep2018
30480703Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.Invest Ophthalmol Vis Sci2018
29526278Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.Am J Hum Genet2018
29550188A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.Am J Ophthalmol2018
29686068Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (<i>CFH</i>) gene family.Proc Natl Acad Sci U S A2018
29310962Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study.Ophthalmology2018
29028687HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.Retina2018
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College of Animal Science and Technology, Guangxi University
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Paul N Baird
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the Scripps Research Institute
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Kenneth Bailey Freund
NYU Grossman School of Medicine
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Andr?? G Uitterlinden
Erasmus University Medical Center
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Carel B Hoyng
Radboud University Medical Center
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Johannes R Vingerling
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Nicholas Katsanis
Northwestern University
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Bert Gold
National Cancer Institute
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Michael B Gorin
Jules Stein Eye Institute
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Radha Ayyagari
Shiley Eye Institute, University of California San Diego
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Joseph D Terwilliger
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Release 1.2