Battu R., Verma A., Hariharan R., Krishna S., Kiran R., Jacob J., Ganapathy A., Ramprasad V.L., Kumaramanickavel G., Jeyabalan N., Ghosh A. Identification of novel mutations in ABCA4 gene: Clinical and genetic analysis of Indian patients with Stargardt disease // Biomed. Res. Int. 2015. 2015. 940864.
Cornelis S.S., Bax N.M., Zernant J., Allikmets R., Fritsche L.G., den Dunnen J.T., Ajmal M., Hoyng C.B., Cremers F.P. In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 retinal dystrophy cases // Hum. Mutat. 2017. 38. (4). 400-408.
Fakin A., Robson A.G., Fujinami K., Moore A.T., Michaelides M., Pei-Wen Chiang J., Holder G., Webster A.R. Phenotype and progression of retinal degeneration associated with nullizigosity of ABCA4 // Invest. Ophthalmol. Vis. Sci. 2016. 57. (11). 4668-4678.
Gemenetzi M., Lotery A.J. Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene // Eye (Lond). 2013. 27. (11). 1316-1369.
Imani S., Cheng J., Shasaltaneh M.D., Wei C., Yang L., Fu S., Zou H., Khan M.A., Zhang X., Chen H., Zhang D., Duan C., Lv H., Li Y., Chen R., Fu J. Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy // Oncotarget. 2018. 9. (1). 122–141.
Karandasheva K.O., Zhorzholadze N.V., Sheremet N.L., Kuznetsova E.B., Tanas A.S., Anoshkin K.I., Zaletaev D.V., Strelnikov V.V. Cryptic splice site mutations in the non-coding regions of the ABCA4 gene in Stargardt disease patients. Meditsinskaya genetika = Medical Genetics. 2016. 15. (6). 31-36. [In Russian].
Maia-Lopes S., Aguirre-Lamban J., Castelo-Branco M., Riveiro-Alvarez R., Ayuso C., Silva E.D. ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis // Mol. Vis. 2009. 15. 584–591.
Michaelides M., Gaillard M.C., Escher P., Tiab L., Bedell M., Borruat F.X., Barthelmes D., Carmona R., Zhang K., White E., Mc. Clements M., Robson A.G., Holder G.E., Bradshaw K., Hunt D.M., Webster A.R., Moore A.T., Schorderet D.F., Munier F.L. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy // Invest. Ophthalmol. Vis. Sci. 2010. 51. (9). 4771–4780.
Permanyer J., Navarro R., Friedman J., Pomares E., Castro-Navarro J., Marfany G., Swaroop A., Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1 // Invest. Ophthalmol. Vis. Sci. 2010. 51. (5). 2656–2663.
Robinson J.T., Thorvaldsdóttir H., Winckler W., Guttman M., Lander E.S., Getz G., Mesirov J.P. Integrative genomics viewer // Nat. Biotechnol. 2011. 29. (1). 24-26.
Sangermano R., Khan M., Cornelis S.S., Richelle V., Albert S., Garanto A., Elmelik D., Qamar R., Lugtenberg D., van den Born L.I., Collin R.W.J., Cremers F.P.M. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease // Genome Res. 2018. 28. (1). 100-110.
Sheremet N.L., Ronzina I.A., Zhorzholadze N.V., Strelnikov V.V. Relationship between structural and functional changes in retina in Stargardt disease. Vestnik oftal'mologii = The Russian Annals of Ophthalmology. 2016. 132. (3). 42-48. [In Russian].
Sheremet N.L., Zhorzholadze N.V., Ronzina I.A., Grushke I.G., Kurbatov S.A., Chukhrova A.L., Loginova A.N., Shcherbakova P.O., Tanas A.S., Polyakov A.V., Strelnikov V.V. Molecular-genetic diagnosis of Stargardt's disease // Vestnik oftalmologiy. 2017. 133. (4). 4-11. [In Russian].
Tanna P., Strauss R.W., Fujinami K., Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options // Br. J. Ophthalmol. 2017. 101. (1). 25-30.
van Driel M.A., Maugeri A., Klevering B.J., Hoyng C.B., Cremers F.P. ABCR unites what ophthalmologists divide(s) // Ophthalmic Genet. 1998. 19. (3). 117-122.
Wang K., Li M., Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data // Nucleic Acids Res. 2010. 38. (16). e164.
Westeneng-van Haaften S.C., Boon C.J., Cremers F.P., Hoefsloot L.H., den Hollander A.I., Hoyng C.B. Clinical and genetic characteristics of late-onset Stargardt’s disease // Ophthalmology. 2012. 119. (6). 1199–1210.
Xi Q., Li L., Traboulsi E.I., Wang Q.K. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease // Mol. Vis. 2009. 15. 638–645.