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Items: 1 to 20 of 60

1.

CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

Collison FT, Lee W, Fishman GA, Park JC, Zernant J, McAnany JJ, Allikmets R.

Retina. 2018 Sep 7. doi: 10.1097/IAE.0000000000002316. [Epub ahead of print]

PMID:
30204727
2.

Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.

Lee W, Zernant J, Nagasaki T, Tsang SH, Allikmets R.

Am J Ophthalmol. 2018 Jul 25. pii: S0002-9394(18)30399-4. doi: 10.1016/j.ajo.2018.07.018. [Epub ahead of print]

PMID:
30055151
3.

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.

Zernant J, Lee W, Nagasaki T, Collison FT, Fishman GA, Bertelsen M, Rosenberg T, Gouras P, Tsang SH, Allikmets R.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002733. doi: 10.1101/mcs.a002733. Print 2018 Aug.

4.

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Paavo M, Zhao J, Kim HJ, Lee W, Zernant J, Cai C, Allikmets R, Tsang SH, Sparrow JR.

Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2459-2469. doi: 10.1167/iovs.18-24213.

5.

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM.

Am J Hum Genet. 2018 Apr 5;102(4):517-527. doi: 10.1016/j.ajhg.2018.02.008. Epub 2018 Mar 8.

6.

HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.

Ciccone L, Lee W, Zernant J, Tanaka K, Schuerch K, Tsang SH, Allikmets R.

Retina. 2017 Oct 12. doi: 10.1097/IAE.0000000000001841. [Epub ahead of print]

PMID:
29028687
7.

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Tanaka K, Lee W, Zernant J, Schuerch K, Ciccone L, Tsang SH, Sparrow JR, Allikmets R.

Ophthalmology. 2018 Jan;125(1):89-99. doi: 10.1016/j.ophtha.2017.07.019. Epub 2017 Sep 22.

8.

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, Sparrow JR, Tsang SH, Allikmets R.

J Med Genet. 2017 Jun;54(6):404-412. doi: 10.1136/jmedgenet-2017-104540. Epub 2017 Apr 26.

9.

Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

Lee W, Schuerch K, Zernant J, Collison FT, Bearelly S, Fishman GA, Tsang SH, Sparrow JR, Allikmets R.

Eur J Hum Genet. 2017 Jun;25(6):735-743. doi: 10.1038/ejhg.2017.13. Epub 2017 Mar 22.

10.

Genome-wide analyses identify common variants associated with macular telangiectasia type 2.

Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium, Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M.

Nat Genet. 2017 Apr;49(4):559-567. doi: 10.1038/ng.3799. Epub 2017 Feb 27.

PMID:
28250457
11.

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Cornelis SS, Bax NM, Zernant J, Allikmets R, Fritsche LG, den Dunnen JT, Ajmal M, Hoyng CB, Cremers FP.

Hum Mutat. 2017 Apr;38(4):400-408. doi: 10.1002/humu.23165. Epub 2017 Feb 3.

PMID:
28044389
12.

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

Lee W, Schuerch K, Xie Y, Zernant J, Tsang SH, Sparrow JR, Allikmets R.

Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3409-15. doi: 10.1167/iovs.16-19621.

13.

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.

Duncker T, Stein GE, Lee W, Tsang SH, Zernant J, Bearelly S, Hood DC, Greenstein VC, Delori FC, Allikmets R, Sparrow JR.

Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7274-85. doi: 10.1167/iovs.15-17371.

14.

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.

Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R.

Hum Genet. 2016 Jan;135(1):9-19. doi: 10.1007/s00439-015-1605-y. Epub 2015 Nov 2.

15.

Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.

Nõupuu K, Lee W, Zernant J, Greenstein VC, Tsang S, Allikmets R.

Graefes Arch Clin Exp Ophthalmol. 2016 May;254(5):865-72. doi: 10.1007/s00417-015-3142-8. Epub 2015 Aug 28.

16.

Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography.

Sparrow JR, Marsiglia M, Allikmets R, Tsang S, Lee W, Duncker T, Zernant J.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):5029-39. doi: 10.1167/iovs.15-16763.

17.

Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease.

Park JC, Collison FT, Fishman GA, Allikmets R, Zernant J, Liu M, McAnany JJ.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4662-7. doi: 10.1167/iovs.15-16955.

18.

Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease.

Greenstein VC, Schuman AD, Lee W, Duncker T, Zernant J, Allikmets R, Hood DC, Sparrow JR.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3226-34. doi: 10.1167/iovs.14-16050.

19.

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.

Duncker T, Tsang SH, Woods RL, Lee W, Zernant J, Allikmets R, Delori FC, Sparrow JR.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3159-70. doi: 10.1167/iovs.14-16343.

20.

Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.

Marsiglia M, Lee W, Mahajan VB, Zernant J, Delori FC, Tsang SH, Sparrow JR.

JAMA Ophthalmol. 2015 Feb;133(2):219-20. doi: 10.1001/jamaophthalmol.2014.4507. No abstract available.

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