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.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.
Cold Spring Harb Mol Case Stud
; 8(1)2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716202
16.
Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.
J Clin Endocrinol Metab
; 107(5): e1917-e1923, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026032
17.
Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
JAMA Oncol
; 8(11): 1598-1606, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136322
18.
Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.
PLoS One
; 15(8): e0233673, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750050
19.
Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.
Cancer Res
; 80(4): 857-867, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822495
20.
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