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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio CRDC, Moreira CM, Novo-Filho GM, Sacramento-Bobotis PR, Groenner Penna M, Perazzio SF, Dutra AP, da Silva RA, Santos MNP, de Arruda VYN, Freitas VG, Pereira VC, Pintao MC, Fornari ARDS, Buzolin AL, Oku AY, Burger M, Ramalho RF, Marco Antonio DS, E Ferreira EN, Pereira OJE, Cantagalli VD, Trindade ACG, de Sousa RRF, Reys Furuzawa C, Verzini F, Matalhana SD, Romano N, Paixão D, Olivati C, Spolador GM, Maciel GAR, Rocha VZ, Miguelez J, de Carvalho MHB, de Souza AWS, Andrade LEC, Chauffaille ML, Perazzio ADSB, Catelani ALPM, Mitne-Neto M, Kim CA, Baratela WADR. Quaio CRDC, et al. Among authors: ramalho rf. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30. Am J Med Genet C Semin Med Genet. 2020. PMID: 33258288
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: ramalho rf. 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
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: ramalho rf. 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.
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT, de Almeida FGDSR, Figueiredo MCP, Barros BDF, de Paula CAA, Valieris R, de Souza JES, Ramalho RF, da Silva FCC, Ferreira EN, de Nóbrega AF, Felicio PS, Achatz MI, de Souza SJ, Palmero EI, Carraro DM. Torrezan GT, et al. Among authors: ramalho rf. Front Genet. 2018 May 7;9:161. doi: 10.3389/fgene.2018.00161. eCollection 2018. Front Genet. 2018. PMID: 29868112 Free PMC article.
BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation.
Brianese RC, Nakamura KDM, Almeida FGDSR, Ramalho RF, Barros BDF, Ferreira ENE, Formiga MNDC, de Andrade VP, de Lima VCC, Carraro DM. Brianese RC, et al. Among authors: ramalho rf. Breast Cancer Res Treat. 2018 Feb;167(3):803-814. doi: 10.1007/s10549-017-4552-6. Epub 2017 Nov 7. Breast Cancer Res Treat. 2018. PMID: 29116469
Differential Expression of MicroRNAs in Leprosy Skin Lesions.
Soares CT, Trombone APF, Fachin LRV, Rosa PS, Ghidella CC, Ramalho RF, Pinilla MG, Carvalho AF, Carrara DN, Soares FA, Belone AFF. Soares CT, et al. Among authors: ramalho rf. Front Immunol. 2017 Aug 25;8:1035. doi: 10.3389/fimmu.2017.01035. eCollection 2017. Front Immunol. 2017. PMID: 28970833 Free PMC article.
14 results