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.
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
3.
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
4.
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
5.
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
6.
Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.
Genet Med
; 25(11): 100937, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466057
7.
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
8.
Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
Cancer
; 128(6): 1275-1283, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875721
9.
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Genet Med
; 23(2): 306-315, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087888
10.
Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
Genet Med
; 21(7): 1669, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127414
11.
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
Genet Med
; 21(3): 683-693, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054569
12.
Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility.
Hum Mol Genet
; 23(1): 12-23, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23943794
13.
Hormone-induced and DNA demethylation-induced relief of a tissue-specific and developmentally regulated block in transcriptional elongation.
J Biol Chem
; 289(51): 35087-101, 2014 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25331959
14.
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.
JCO Precis Oncol
; 8: e2300404, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564685
15.
Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.
JAMA Oncol
; 10(2): 212-219, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924330
16.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
medRxiv
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746299
17.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
medRxiv
; 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609227
18.
BRCA1 frameshift variants leading to extended incorrect protein C termini.
HGG Adv
; 4(4): 100240, 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37718511
19.
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
20.
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