Detalhe da pesquisa
1.
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Am J Hum Genet
; 111(1): 24-38, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103548
2.
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
3.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271184
4.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
5.
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
6.
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Am J Hum Genet
; 108(3): 458-468, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33609447
7.
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
8.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800450
9.
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.
J Med Genet
; 60(12): 1215-1217, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37536919
10.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600593
11.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
12.
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
13.
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
14.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906457
15.
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
Hum Mutat
; 42(10): 1265-1278, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245638
16.
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
17.
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
18.
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
J Med Genet
; 57(1): 62-69, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31391288
19.
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
20.
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