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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: salles mv. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 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. Ophthalmic Genet. 2017 Jan-Feb;38(1):39-42. doi: 10.1080/13816810.2016.1275022. Epub 2017 Jan 17. Ophthalmic Genet. 2017. PMID: 28095140
Gene panel sequencing in Brazilian patients with retinitis pigmentosa.
Costa KA, Salles MV, Whitebirch C, Chiang J, Sallum JMF. Costa KA, et al. Among authors: salles mv. Int J Retina Vitreous. 2017 Sep 11;3:33. doi: 10.1186/s40942-017-0087-6. eCollection 2017. Int J Retina Vitreous. 2017. PMID: 28912962 Free PMC article.
Relative frequency of inherited retinal dystrophies in Brazil.
Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF. Motta FL, et al. Among authors: salles mv. Sci Rep. 2018 Oct 29;8(1):15939. doi: 10.1038/s41598-018-34380-0. Sci Rep. 2018. PMID: 30374144 Free PMC article.
Retinal dystrophies and variants in PRPH2.
Palma MMD, Martin D, Salles MV, Motta FLT, Abujamra S, Sallum JMF. Palma MMD, et al. Among authors: salles mv. Arq Bras Oftalmol. 2019 Mar-Apr;82(2):158-160. doi: 10.5935/0004-2749.20190033. Arq Bras Oftalmol. 2019. PMID: 30726412 Free article.
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
Silva RS, Salles MV, Motta FL, Sallum JMF. Silva RS, et al. Among authors: salles mv. Sci Rep. 2020 Jan 31;10(1):1603. doi: 10.1038/s41598-020-58243-9. Sci Rep. 2020. PMID: 32005865 Free PMC article.
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