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• Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis.

  Cho EH, Park JE, Lee T, Ha K, Ki CS. Cho EH, et al. Orphanet J Rare Dis. 2022 Nov 9;17(1):409. doi: 10.1186/s13023-022-02566-5. Orphanet J Rare Dis. 2022. PMID: 36352427 Free PMC article.
• Next-generation genetic testing for retinitis pigmentosa.

  Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
• Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

  Tayebi N, Akinrinade O, Khan MI, Hejazifar A, Dehghani A, Cremers FPM, Akhlaghi M. Tayebi N, et al. Mol Vis. 2019 Feb 8;25:106-117. eCollection 2019. Mol Vis. 2019. PMID: 30820146 Free PMC article.
• Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.

  Choi EH, Suh S, Sander CL, Hernandez CJO, Bulman ER, Khadka N, Dong Z, Shi W, Palczewski K, Kiser PD. Choi EH, et al. Hum Mol Genet. 2018 Jul 1;27(13):2225-2243. doi: 10.1093/hmg/ddy128. Hum Mol Genet. 2018. PMID: 29659842 Free PMC article.
• Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

  Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Jacobson SG, et al. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6177-82. doi: 10.1073/pnas.0500646102. Epub 2005 Apr 18. Proc Natl Acad Sci U S A. 2005. PMID: 15837919 Free PMC article.