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Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Costa CIS, et al. Among authors: da costa ss, da silva montenegro em. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15. Clin Genet. 2022. PMID: 34664255
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
de Oliveira JF, do Prado PFV, da Costa SS, Sforça ML, Canateli C, Ranzani AT, Maschietto M, de Oliveira PSL, Otto PA, Klevit RE, Krepischi ACV, Rosenberg C, Franchini KG. de Oliveira JF, et al. Among authors: da costa ss. Nat Chem Biol. 2019 Jan;15(1):62-70. doi: 10.1038/s41589-018-0177-2. Epub 2018 Dec 10. Nat Chem Biol. 2019. PMID: 30531907 Free PMC article.
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pires SF, Tolezano GC, da Costa SS, Kawahira RSH, Kim CA, Rosenberg C, Teixeira ACB, Bertola DR, Krepischi ACV. Pires SF, et al. Among authors: da costa ss. Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376. Epub 2020 Aug 3. Pediatr Blood Cancer. 2020. PMID: 32748512 No abstract available.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Villela D, et al. Among authors: da costa ss. Am J Med Genet A. 2021 Aug;185(8):2335-2344. doi: 10.1002/ajmg.a.62237. Epub 2021 May 14. Am J Med Genet A. 2021. PMID: 33988290
Two novel pathogenic variants in MED13L: one familial and one isolated case.
Carvalho LML, da Costa SS, Campagnari F, Kaufman A, Bertola DR, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Among authors: da costa ss, da silva it. J Intellect Disabil Res. 2021 Dec;65(12):1049-1057. doi: 10.1111/jir.12891. Epub 2021 Oct 28. J Intellect Disabil Res. 2021. PMID: 34713510 Review.
65 results