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Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity.
Ferreira CS, da Silva Francisco Junior R, Gerber AL, Guimarães APC, Amendola FA, Pinto-Mariz F, de Souza MS, Miranda PCB, de Vasconcelos ZFM, Goudouris ES, Vasconcelos ATR. Ferreira CS, et al. Among authors: da silva francisco junior r. BMC Genom Data. 2023 Jun 30;24(1):36. doi: 10.1186/s12863-023-01137-2. BMC Genom Data. 2023. PMID: 37391719 Free PMC article.
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
Borda V, da Silva Francisco Junior R, Carvalho JB, Morais GL, Duque Rossi Á, Pezzuto P, Azevedo GS, Schamber-Reis BL, Portari EA, Melo A, Moreira MEL, Guida LC, Cunha DP, Gomes L, Vasconcelos ZFM, Faucz FR, Tanuri A, Stratakis CA, Aguiar RS, Cardoso CC, Vasconcelos ATR. Borda V, et al. Among authors: da silva francisco junior r. PLoS Negl Trop Dis. 2021 Jun 14;15(6):e0009507. doi: 10.1371/journal.pntd.0009507. eCollection 2021 Jun. PLoS Negl Trop Dis. 2021. PMID: 34125832 Free PMC article.
Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.
da Silva Francisco Junior R, Dos Santos Ferreira C, Santos E Silva JC, Terra Machado D, Côrtes Martins Y, Ramos V, Simões Carnivali G, Garcia AB, Medina-Acosta E. da Silva Francisco Junior R, et al. Front Genet. 2019 Nov 26;10:1178. doi: 10.3389/fgene.2019.01178. eCollection 2019. Front Genet. 2019. PMID: 31850058 Free PMC article.
Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.
de Sá Machado Araújo G, da Silva Francisco Junior R, Dos Santos Ferreira C, Mozer Rodrigues PT, Terra Machado D, Louvain de Souza T, Teixeira de Souza J, Figueiredo Osorio da Silva C, Alves da Silva AF, Andrade CCF, da Silva AT, Ramos V, Garcia AB, Machado FB, Medina-Acosta E. de Sá Machado Araújo G, et al. Among authors: da silva francisco junior r. Front Genet. 2018 Mar 1;9:36. doi: 10.3389/fgene.2018.00036. eCollection 2018. Front Genet. 2018. PMID: 29545821 Free PMC article.
Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
Alves da Silva AF, Machado FB, Pavarino ÉC, Biselli-Périco JM, Zampieri BL, da Silva Francisco Junior R, Mozer Rodrigues PT, Terra Machado D, Santos-Rebouças CB, Gomes Fernandes M, Chuva de Sousa Lopes SM, Lopes Rios ÁF, Medina-Acosta E. Alves da Silva AF, et al. Among authors: da silva francisco junior r. PLoS One. 2016 Apr 21;11(4):e0154108. doi: 10.1371/journal.pone.0154108. eCollection 2016. PLoS One. 2016. PMID: 27100087 Free PMC article.