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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: sallum j. 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.
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.
Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA. Koenekoop RK, et al. Among authors: sallum j. Lancet. 2014 Oct 25;384(9953):1513-20. doi: 10.1016/S0140-6736(14)60153-7. Epub 2014 Jul 13. Lancet. 2014. PMID: 25030840 Clinical Trial.
Retinal dystrophies and variants in PRPH2.
Palma MMD, Martin D, Salles MV, Motta FLT, Abujamra S, Sallum JMF. Palma MMD, et al. 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. Sci Rep. 2020 Jan 31;10(1):1603. doi: 10.1038/s41598-020-58243-9. Sci Rep. 2020. PMID: 32005865 Free PMC article.
85 results