Detalhe da pesquisa
1.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Am J Hum Genet
; 108(12): 2248-2258, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34793697
2.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
3.
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.
Genet Med
; 24(3): 673-680, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906512
4.
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.
Hum Mutat
; 42(10): 1351-1361, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273903
5.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300245
6.
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53.
Hum Mutat
; 41(3): 537-542, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898864
7.
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Hum Mutat
; 41(9): 1555-1562, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485079
8.
Genotype-phenotype associations among panel-based TP53+ subjects.
Genet Med
; 21(11): 2478-2484, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31105275
9.
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing.
Cancer Genet
; 248-249: 11-17, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32966936
10.
A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
Cancer Res
; 80(17): 3732-3744, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32675277
11.
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.
Cancer Genet
; 235-236: 21-27, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31296311
12.
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
JAMA Netw Open
; 2(10): e1913900, 2019 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31642931