Detalhe da pesquisa
1.
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Clin Chem
; 70(1): 319-338, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725924
2.
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
3.
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
4.
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
5.
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
Cancers (Basel)
; 14(12)2022 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740625
6.
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
Cancers (Basel)
; 14(18)2022 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36139699
7.
Genomic Mapping of Splicing-Related Genes Identify Amplifications in LSM1, CLNS1A, and ILF2 in Luminal Breast Cancer.
Cancers (Basel)
; 13(16)2021 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34439272