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The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.
Neves LM, Pinto M, Zin OA, Cunha DP, Agonigi BNS, Motta FL, Gomes LHF, Horovitz DDG, Almeida DC Jr, Malacarne J, Guida L, Braga A, Carvalho AB, Pereira E, Rodrigues APS, Sallum JMF, Zin AA, Vasconcelos ZFM. Neves LM, et al. Among authors: motta fl. J Community Genet. 2024 May 10. doi: 10.1007/s12687-024-00708-9. Online ahead of print. J Community Genet. 2024. PMID: 38730191
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.
Zin OA, Neves LM, Motta FL, Horovitz DDG, Guida L, Gomes LHF, Cunha DP, Rodrigues APS, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Among authors: motta fl. Genes (Basel). 2021 Jul 13;12(7):1069. doi: 10.3390/genes12071069. Genes (Basel). 2021. PMID: 34356085 Free PMC article.
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
Zin OA, Neves LM, Cunha DP, Motta FL, Agonigi BNS, Horovitz DDG, Almeida DC Jr, Malacarne J, Rodrigues APS, Carvalho AB, Rivello CA, Espariz R, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Among authors: motta fl. Int J Mol Sci. 2023 Jul 25;24(15):11876. doi: 10.3390/ijms241511876. Int J Mol Sci. 2023. PMID: 37569253 Free PMC article.
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.
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.
TUBGCP4 - associated microcephaly and chorioretinopathy.
Da Palma MM, Motta FL, Takitani GEDS, Salles MV, Lima LH, Ferraz Sallum JM. Da Palma MM, et al. Among authors: motta fl. Ophthalmic Genet. 2020 Apr;41(2):189-193. doi: 10.1080/13816810.2020.1747084. Epub 2020 Apr 9. Ophthalmic Genet. 2020. PMID: 32270730
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
49 results