Detalhe da pesquisa
1.
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
J Med Genet
; 61(1): 61-68, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37536918
2.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Am J Med Genet C Semin Med Genet
; 187(3): 364-372, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34269512
3.
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Genet Mol Biol
; 44(4): 20210061, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609444
4.
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Am J Med Genet C Semin Med Genet
; 184(4): 955-964, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258288
5.
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.
BMC Cancer
; 19(1): 4, 2019 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30606148
6.
Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
Front Oncol
; 12: 976959, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36119527
7.
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients.
Cancer Imaging
; 18(1): 27, 2018 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107858