Detalhe da pesquisa
1.
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
J Pathol
; 258(1): 83-101, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716007
2.
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
J Pathol
; 256(3): 321-334, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846068
3.
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
J Med Genet
; 56(6): 347-357, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962250
4.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28490613
5.
RAD51 as a biomarker for homologous recombination deficiency in high-grade serous ovarian carcinoma: robustness and interobserver variability of the RAD51 test.
J Pathol Clin Res
; 9(6): 442-448, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37504067