Detalhe da pesquisa
1.
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Am J Hum Genet
; 111(3): 584-593, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38417439
2.
TCF7L2 lncRNA: a link between bipolar disorder and body mass index through glucocorticoid signaling.
Mol Psychiatry
; 26(12): 7454-7464, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34535768
3.
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants.
bioRxiv
; 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168194
4.
Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
J Clin Oncol
; 41(9): 1703-1713, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36623243
5.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Cancer Res
; 83(15): 2557-2571, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253112
6.
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Clin Cancer Res
; 28(17): 3742-3751, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35736817