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Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Mazzonetto PC, Villela D, da Costa SS, Krepischi ACV, Milanezi F, Migliavacca MP, Pierry PM, Bonaldi A, Almeida LGD, De Souza CA, Kroll JE, Paula MG, Guarischi-Sousa R, Scapulatempo-Neto C, Rosenberg C. Mazzonetto PC, et al. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
Temporal pattern of Fos and Jun families expression after mitogenic stimulation with FGF-2 in rat neural stem cells and fibroblasts.
Mosini AC, Mazzonetto PC, Calió ML, Pompeu C, Massinhani FH, Nakamura TKE, Pires JM, Silva CS, Porcionatto MA, Mello LE. Mosini AC, et al. Among authors: mazzonetto pc. Braz J Med Biol Res. 2023 Sep 8;56:e12546. doi: 10.1590/1414-431X2023e12546. eCollection 2023. Braz J Med Biol Res. 2023. PMID: 37703106 Free PMC article.
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Mazzonetto P, Milanezi F, D'Andrea M, Martins S, Monfredini PM, Dos Santos Silva J, Perrone E, Villela D, Schnabel B, Nakano V, Palmero EI, Braggio E, Cavalcanti TL, Guida G, Migliavacca MP, Scapulatempo-Neto C, Zalcberg I. Mazzonetto P, et al. Breast Cancer Res Treat. 2023 May;199(1):127-136. doi: 10.1007/s10549-023-06892-5. Epub 2023 Mar 7. Breast Cancer Res Treat. 2023. PMID: 36881271
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Krepischi ACV, et al. Among authors: mazzonetto pc. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
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: mazzonetto pc. 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