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Development of machine learning models to predict RT-PCR results for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in patients with influenza-like symptoms using only basic clinical data.
Langer T, Favarato M, Giudici R, Bassi G, Garberi R, Villa F, Gay H, Zeduri A, Bragagnolo S, Molteni A, Beretta A, Corradin M, Moreno M, Vismara C, Perno CF, Buscema M, Grossi E, Fumagalli R. Langer T, et al. Among authors: bragagnolo s. Scand J Trauma Resusc Emerg Med. 2020 Dec 1;28(1):113. doi: 10.1186/s13049-020-00808-8. Scand J Trauma Resusc Emerg Med. 2020. PMID: 33261629 Free PMC article.
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI. Zamariolli M, et al. Among authors: bragagnolo s. Mol Genet Genomic Med. 2019 Oct;7(10):e00959. doi: 10.1002/mgg3.959. Epub 2019 Aug 30. Mol Genet Genomic Med. 2019. PMID: 31469246 Free PMC article.
Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.
Bellucco FT, Rodrigues de Oliveira-Júnior H, Santos Guilherme R, Bragagnolo S, Alvarez Perez AB, Ayres Meloni V, Melaragno MI. Bellucco FT, et al. Among authors: bragagnolo s. Mol Syndromol. 2019 May;10(3):139-146. doi: 10.1159/000497402. Epub 2019 Mar 6. Mol Syndromol. 2019. PMID: 31191202 Free PMC article.
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.
Moysés-Oliveira M, Di-Battista A, Zamariolli M, Meloni VA, Bragagnolo S, Christofolini DM, Steiner CE, Kosyakova N, Liehr T, Reymond A, Melaragno MI. Moysés-Oliveira M, et al. Among authors: bragagnolo s. Eur J Hum Genet. 2019 May;27(5):760-771. doi: 10.1038/s41431-019-0341-5. Epub 2019 Jan 30. Eur J Hum Genet. 2019. PMID: 30700833 Free PMC article.
Clinical and cytogenomic findings in OAV spectrum.
Bragagnolo S, Colovati MES, Souza MZ, Dantas AG, F de Soares MF, Melaragno MI, Perez AB. Bragagnolo S, et al. Am J Med Genet A. 2018 Mar;176(3):638-648. doi: 10.1002/ajmg.a.38576. Epub 2018 Jan 25. Am J Med Genet A. 2018. PMID: 29368383
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer M, Tingaud-Sequeira A, Colovati M, Melaragno MI, Bragagnolo S, Perez ABA, Arveiler B, Lacombe D, Rooryck C. Berenguer M, et al. Among authors: bragagnolo s. Eur J Hum Genet. 2017 Sep;25(9):1083-1086. doi: 10.1038/ejhg.2017.101. Epub 2017 Jun 14. Eur J Hum Genet. 2017. PMID: 28612832 Free PMC article.
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