Detalhe da pesquisa
1.
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics
; 17(1): 102, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968704
2.
Sabiá Virus-Like Mammarenavirus in Patient with Fatal Hemorrhagic Fever, Brazil, 2020.
Emerg Infect Dis
; 26(6): 1332-1334, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32441627
3.
Real-world genomic profiling of acute myeloid leukemia and the impact of European LeukemiaNet risk stratification 2022 update.
Clin Transl Oncol
; 25(12): 3431-3436, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165281
4.
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.
Eur J Hum Genet
; 30(7): 818-823, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534704
5.
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Sci Rep
; 12(1): 7764, 2022 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546177
6.
The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.
Front Mol Biosci
; 9: 821582, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35586190
7.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Front Genet
; 13: 921324, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36147510
8.
Hepatitis B in the Northwestern region of Sao Paulo State: genotypes and resistance mutations.
Rev Inst Med Trop Sao Paulo
; 63: e78, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34755817
9.
Mass molecular testing for COVID19 using NGS-based technology and a highly scalable workflow.
Sci Rep
; 11(1): 7122, 2021 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782491