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Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?
Paixão D, Lima THA, de Souza RRF, Carnavalli JEP, Picanço-Albuquerque CG, Silva-Fernandes IJL, de Barros Silva PG, Mitne-Neto M, Moreira CM, Baratela WADR. Paixão D, et al. Among authors: de souza rrf. Front Oncol. 2024 Jun 18;14:1390221. doi: 10.3389/fonc.2024.1390221. eCollection 2024. Front Oncol. 2024. PMID: 38957325 Free PMC article.
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio CRDC, Obando MJR, Perazzio SF, Dutra AP, Chung CH, Moreira CM, Novo Filho GM, Sacramento-Bobotis PR, Penna MG, Souza RRF, Cintra VP, Carnavalli JEP, Silva RAD, Santos MNP, Paixão D, Baratela WADR, Olivati C, Spolador GM, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, Ferreira ENE, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Among authors: souza rrf. Genet Mol Biol. 2021 Sep 29;44(4):20210061. doi: 10.1590/1678-4685-GMB-2021-0061. eCollection 2021. Genet Mol Biol. 2021. PMID: 34609444 Free PMC article.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Quaio CRDC, Chung CH, Perazzio SF, Dutra AP, Moreira CM, Filho GMN, Sacramento-Bobotis PR, Penna MG, de Souza RRF, Cintra VP, Carnavalli JEP, da Silva RA, Paixão D, Baratela WADR, Olivati C, Spolador GM, Santos MNP, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, E Ferreira EN, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Among authors: de souza rrf. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):364-372. doi: 10.1002/ajmg.c.31932. Epub 2021 Jul 16. Am J Med Genet C Semin Med Genet. 2021. PMID: 34269512
Medical Interns and COVID-19: results of national research.
Carrascosa MMC, Campos T, Sampaio JE, Souza RRF, Ribeiro VL, Maia MLN, Gama LCL, Severino MP, Semer NK, Rondon O, Silva JBM, Miyazi M, Domingues SR, Batalha NES, Martins DE. Carrascosa MMC, et al. Among authors: souza rrf. Rev Assoc Med Bras (1992). 2020 Jun;66(6):812-817. doi: 10.1590/1806-9282.66.6.812. Epub 2020 Jul 20. Rev Assoc Med Bras (1992). 2020. PMID: 32696877 Free article.