| Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations FPM Cremers, W Lee, RWJ Collin, R Allikmets Progress in retinal and eye research 79, 100861, 2020 | 280 | 2020 |
| Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration J Zernant, W Lee, FT Collison, GA Fishman, YV Sergeev, K Schuerch, ... Journal of medical genetics 54 (6), 404-412, 2017 | 196 | 2017 |
| Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 178 | 2021 |
| Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease S Albert, A Garanto, R Sangermano, M Khan, NM Bax, CB Hoyng, ... The American Journal of Human Genetics 102 (4), 517-527, 2018 | 148 | 2018 |
| Flecks in recessive Stargardt disease: short-wavelength autofluorescence, near-infrared autofluorescence, and optical coherence tomography JR Sparrow, M Marsiglia, R Allikmets, S Tsang, W Lee, T Duncker, ... Investigative ophthalmology & visual science 56 (8), 5029-5039, 2015 | 115 | 2015 |
| Comparison of near-infrared and short-wavelength autofluorescence in retinitis pigmentosa T Duncker, MR Tabacaru, W Lee, SH Tsang, JR Sparrow, VC Greenstein Investigative Ophthalmology & Visual Science 54 (1), 585-591, 2013 | 99 | 2013 |
| Quantitative fundus autofluorescence distinguishes ABCA4-associated and Non–ABCA4-associated bull's-eye maculopathy T Duncker, SH Tsang, W Lee, J Zernant, R Allikmets, FC Delori, ... Ophthalmology 122 (2), 345-355, 2015 | 92 | 2015 |
| Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease T Duncker, M Marsiglia, W Lee, J Zernant, SH Tsang, R Allikmets, ... Investigative ophthalmology & visual science 55 (12), 8134-8143, 2014 | 89 | 2014 |
| Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype SH Tsang, T Burke, M Oll, S Yzer, W Lee, YA Xie, R Allikmets Ophthalmology 121 (9), 1773-1782, 2014 | 85 | 2014 |
| Glaucomatous optic neuropathy associated with nocturnal dip in blood pressure: findings from the Maracaibo Aging Study JD Melgarejo, JH Lee, M Petitto, JB Yépez, FA Murati, Z Jin, CA Chávez, ... Ophthalmology 125 (6), 807-814, 2018 | 83 | 2018 |
| The External Limiting Membrane in Early-Onset Stargardt Disease W Lee, K Nõupuu, M Oll, T Duncker, T Burke, J Zernant, S Bearelly, ... Investigative ophthalmology & visual science 55 (10), 6139-6149, 2014 | 78 | 2014 |
| Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes J Zernant, W Lee, T Nagasaki, FT Collison, GA Fishman, M Bertelsen, ... Molecular Case Studies 4 (4), a002733, 2018 | 77 | 2018 |
| Quantitative fundus autofluorescence and optical coherence tomography in PRPH2/RDS-and ABCA4-associated disease exhibiting phenotypic overlap T Duncker, SH Tsang, RL Woods, W Lee, J Zernant, R Allikmets, ... Investigative Ophthalmology & Visual Science 56 (5), 3159-3170, 2015 | 70 | 2015 |
| Quantifying fundus autofluorescence in patients with retinitis pigmentosa K Schuerch, RL Woods, W Lee, T Duncker, FC Delori, R Allikmets, ... Investigative ophthalmology & visual science 58 (3), 1843-1855, 2017 | 69 | 2017 |
| Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach SM Petersen-Jones, LM Occelli, PA Winkler, W Lee, JR Sparrow, ... The Journal of Clinical Investigation 128 (1), 190-206, 2018 | 61 | 2018 |
| The rapid-onset chorioretinopathy phenotype of ABCA4 disease K Tanaka, W Lee, J Zernant, K Schuerch, L Ciccone, SH Tsang, ... Ophthalmology 125 (1), 89-99, 2018 | 58 | 2018 |
| Choroidal and retinal thickening in severe preeclampsia A Garg, RJ Wapner, CV Ananth, E Dale, SH Tsang, W Lee, R Allikmets, ... Investigative Ophthalmology & Visual Science 55 (9), 5723-5729, 2014 | 58 | 2014 |
| Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes W Lee, Y Xie, J Zernant, B Yuan, S Bearelly, SH Tsang, JR Lupski, ... Human genetics 135, 9-19, 2016 | 50 | 2016 |
| Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive Stargardt disease VC Greenstein, AD Schuman, W Lee, T Duncker, J Zernant, R Allikmets, ... Investigative Ophthalmology & Visual Science 56 (5), 3226-3234, 2015 | 49 | 2015 |
| Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease W Lee, J Zernant, T Nagasaki, LL Molday, PY Su, GA Fishman, SH Tsang, ... Human molecular genetics 30 (14), 1293-1304, 2021 | 48 | 2021 |