Detalhe da pesquisa
1.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
2.
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.
JCO Precis Oncol
; 8: e2300404, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564685
3.
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
NPJ Genom Med
; 7(1): 49, 2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008414
4.
High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals.
Front Immunol
; 12: 694243, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34335605