Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 221

1.

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R, Park KS, Tanaka AJ, Cho A, Paavo M, Zernant J, Francis JH, Allikmets R, Sparrow JR, Tsang SH.

Am J Ophthalmol. 2019 Jun 7. pii: S0002-9394(19)30269-7. doi: 10.1016/j.ajo.2019.06.002. [Epub ahead of print]

PMID:
31181178
2.

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.

Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R.

Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2347-2356. doi: 10.1167/iovs.19-26993.

3.

Multi-platform imaging in ABCA4-Associated Disease.

Chen L, Lee W, de Carvalho JRL Jr, Chang S, Tsang SH, Allikmets R, Sparrow JR.

Sci Rep. 2019 Apr 23;9(1):6436. doi: 10.1038/s41598-019-42772-z.

4.

A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.

Wolock CJ, Stong N, Ma CJ, Nagasaki T, Lee W, Tsang SH, Kamalakaran S, Goldstein DB, Allikmets R.

Genet Med. 2019 Mar 30. doi: 10.1038/s41436-019-0495-0. [Epub ahead of print]

PMID:
30926958
5.

Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration.

Sengillo JD, Cho GY, Paavo M, Lee W, White E, Jauregui R, Sparrow JR, Allikmets R, Tsang SH.

Sci Rep. 2019 Jan 29;9(1):876. doi: 10.1038/s41598-018-37578-4.

6.

Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1.

Ma CJ, Lee W, Stong N, Zernant J, Chang S, Goldstein D, Nagasaki T, Allikmets R.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003624. doi: 10.1101/mcs.a003624. Print 2019 Jun.

7.

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Allikmets R, Zernant J, Lee W.

Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5564-5565. doi: 10.1167/iovs.18-25579. No abstract available.

PMID:
30480703
8.

Corrigendum: Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients.

De Moraes CG, Pettito M, Yepez JB, Sakuntabhai A, Simon-Loriere E, Zaidi MB, Prot M, Ruffie C, Kim SS, Allikmets R, Terwilliger JD, Lee JH, Maestre GE.

JMM Case Rep. 2018 Aug 31;5(8):e005161. doi: 10.1099/jmmcr.0.005161. eCollection 2018 Aug.

9.

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
10.

Non-congenital severe ocular complications of Zika virus infection.

Zaidi MB, De Moraes CG, Petitto M, Yepez JB, Sakuntabhai A, Simon-Loriere E, Prot M, Ruffie C, Kim SS, Allikmets R, Terwilliger JD, Lee JH, Maestre GE.

JMM Case Rep. 2018 May 14;5(6):e005152. doi: 10.1099/jmmcr.0.005152. eCollection 2018 Jun. No abstract available.

11.

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 Nov;195:16-25. doi: 10.1016/j.ajo.2018.07.018. Epub 2018 Jul 26.

12.

Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients.

De Moraes CG, Pettito M, Yepez JB, Sakuntabhai A, Simon-Loriere E, Zaidi MB, Prot M, Ruffie C, Kim SS, Allikmets R, Terwilliger JD, Lee JH, Maestre GE.

JMM Case Rep. 2018 Mar 14;5(5):e005145. doi: 10.1099/jmmcr.0.005145. eCollection 2018 May. Erratum in: JMM Case Rep. 2018 Aug 31;5(8):e005161.

13.

A non-retinoid antagonist of retinol-binding protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle.

Racz B, Varadi A, Kong J, Allikmets R, Pearson PG, Johnson G, Cioffi CL, Petrukhin K.

J Biol Chem. 2018 Jul 20;293(29):11574-11588. doi: 10.1074/jbc.RA118.002062. Epub 2018 Jun 5.

14.

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.

15.

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.

16.

Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.

Paavo M, Lee W, Allikmets R, Tsang S, Sparrow JR.

J Neurosci Res. 2019 Jan;97(1):98-106. doi: 10.1002/jnr.24252. Epub 2018 Apr 27.

17.

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, Weber BHF, Baird PN, Allikmets R, Eichler EE.

Proc Natl Acad Sci U S A. 2018 May 8;115(19):E4433-E4442. doi: 10.1073/pnas.1717600115. Epub 2018 Apr 23.

18.

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

Sengillo JD, Lee W, Nagasaki T, Schuerch K, Yannuzzi LA, Freund KB, Sparrow JR, Allikmets R, Tsang SH.

Am J Ophthalmol. 2018 Jun;190:99-112. doi: 10.1016/j.ajo.2018.03.008. Epub 2018 Mar 14.

PMID:
29550188
19.

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.

20.

Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study.

Melgarejo JD, Lee JH, Petitto M, Yépez JB, Murati FA, Jin Z, Chávez CA, Pirela RV, Calmón GE, Lee W, Johnson MP, Mena LJ, Al-Aswad LA, Terwilliger JD, Allikmets R, Maestre GE, De Moraes CG.

Ophthalmology. 2018 Jun;125(6):807-814. doi: 10.1016/j.ophtha.2017.11.029. Epub 2018 Jan 6.

21.

A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease.

Greenstein VC, Nunez J, Lee W, Schuerch K, Fortune B, Tsang SH, Allikmets R, Sparrow JR, Hood DC.

Invest Ophthalmol Vis Sci. 2017 Oct 1;58(12):5227-5236. doi: 10.1167/iovs.17-22532.

22.

HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.

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

Retina. 2018 Nov;38(11):2214-2219. doi: 10.1097/IAE.0000000000001841.

PMID:
29028687
23.

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.

24.

Associations Between β-Peripapillary Atrophy and Reticular Pseudodrusen in Early Age-Related Macular Degeneration.

Garg A, Blumberg DM, Al-Aswad LA, Oll M, Yzer S, Forbes M, Allikmets RL, Bearelly S.

Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2810-2815. doi: 10.1167/iovs.16-20343.

25.

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

Garg A, Lee W, Sengillo JD, Allikmets R, Garg K, Tsang SH.

Ophthalmic Genet. 2017 Dec;38(6):575-579. doi: 10.1080/13816810.2017.1323339. Epub 2017 May 17.

26.

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.

27.

Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Verdina T, Greenstein VC, Sodi A, Tsang SH, Burke TR, Passerini I, Allikmets R, Virgili G, Cavallini GM, Rizzo S.

Graefes Arch Clin Exp Ophthalmol. 2017 Jul;255(7):1307-1317. doi: 10.1007/s00417-017-3637-6. Epub 2017 Apr 2.

28.

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.

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

Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1843-1855. doi: 10.1167/iovs.16-21302.

29.

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.

30.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.

31.

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
32.

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
33.

Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.

Nilsson O, Isoherranen N, Guo MH, Lui JC, Jee YH, Guttmann-Bauman I, Acerini C, Lee W, Allikmets R, Yanovski JA, Dauber A, Baron J.

Horm Metab Res. 2016 Nov;48(11):737-744. Epub 2016 Sep 2. Review.

34.

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.

35.

Quantitative Autofluorescence and ABCA4 Disease.

Allikmets R, Duncker T, Lee W, Tsang SH.

Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3297-8. doi: 10.1167/iovs.16-19342. No abstract available.

PMID:
27333183
36.

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

Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM.

Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.

37.

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.

38.

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.

39.

Reply: To PMID 25545482.

Fung AT, Yzer S, Allikmets R.

Retina. 2015 Sep;35(9):e58. doi: 10.1097/IAE.0000000000000697. No abstract available.

40.

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.

41.

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.

42.

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.

43.

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.

44.

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.

45.

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.

Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R.

Ophthalmic Genet. 2015;36(3):270-5. doi: 10.3109/13816810.2015.1010736.

46.

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).

Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH.

Neuromolecular Med. 2015 Jun;17(2):111-20. doi: 10.1007/s12017-015-8342-1. Epub 2015 Feb 14.

47.

Gene Therapy of ABCA4-Associated Diseases.

Auricchio A, Trapani I, Allikmets R.

Cold Spring Harb Perspect Med. 2015 Jan 8;5(5):a017301. doi: 10.1101/cshperspect.a017301. Review.

48.

New best1 mutations in autosomal recessive bestrophinopathy.

Fung AT, Yzer S, Goldberg N, Wang H, Nissen M, Giovannini A, Merriam JE, Bukanova EN, Cai C, Yannuzzi LA, Tsang SH, Allikmets R.

Retina. 2015 Apr;35(4):773-82. doi: 10.1097/IAE.0000000000000387.

49.

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

Riveiro-Álvarez R, Xie YA, López-Martínez MÁ, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R.

JAMA Ophthalmol. 2015 Feb;133(2):133-9. doi: 10.1001/jamaophthalmol.2014.4266.

50.

Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

Duncker T, Marsiglia M, Lee W, Zernant J, Tsang SH, Allikmets R, Greenstein VC, Sparrow JR.

Invest Ophthalmol Vis Sci. 2014 Oct 23;55(12):8134-43. doi: 10.1167/iovs.14-14848.

Supplemental Content

Loading ...
Support Center