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Macular dystrophies associated with Stargardt-like phenotypes.
Amaral RAS, Zin OA, Salles MV, Motta FL, Sallum JMF. Amaral RAS, et al. Among authors: motta fl. Arq Bras Oftalmol. 2023 Mar 24:S0004-27492023005002303. doi: 10.5935/0004-2749.2021-0415. Online ahead of print. Arq Bras Oftalmol. 2023. PMID: 36995812 Free article.
PROM1 gene variations in Brazilian patients with macular dystrophy.
Salles MV, Motta FL, Dias da Silva E, Varela Lima Teixeira P, Antunes Costa K, Filippelli-Silva R, Martin R, Pesquero JB, Ferraz Sallum JM. Salles MV, et al. Among authors: motta fl. Ophthalmic Genet. 2017 Jan-Feb;38(1):39-42. doi: 10.1080/13816810.2016.1275022. Epub 2017 Jan 17. Ophthalmic Genet. 2017. PMID: 28095140
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Among authors: motta fl. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
Silva RS, Salles MV, Motta FL, Sallum JMF. Silva RS, et al. Among authors: motta fl. Sci Rep. 2020 Jan 31;10(1):1603. doi: 10.1038/s41598-020-58243-9. Sci Rep. 2020. PMID: 32005865 Free PMC article.
49 results