Detalhe da pesquisa
1.
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
2.
Racial disparities in cascade testing for cancer predisposition genes.
Prev Med
; 172: 107539, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37156429
3.
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Cancer
; 128(4): 675-684, 2022 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34724198
4.
CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.
Br J Cancer
; 126(5): 797-803, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949788
5.
Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
Breast Cancer Res Treat
; 196(2): 355-361, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094610
6.
Multi-ethnic analysis shows genetic risk and environmental predictors interact to influence 25(OH)D concentration and optimal vitamin D intake.
Genet Epidemiol
; 44(2): 208-217, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31830327
7.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404389
8.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
9.
Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.
Hum Genet
; 138(10): 1155-1169, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342140
10.
High frequency of germline variants in CFTR identified in PDAC patients enrolled in an expanded panel multi-gene panel testing program.
HPB (Oxford)
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38825435
11.
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 288, 2021 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732190
12.
A Novel Approach for Measuring and Communicating State Health Trends Over Time.
WMJ
; 114(6): 240-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26854311
13.
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
Epilepsia Open
; 9(1): 439-444, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38071479
14.
Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.
Urology
; 176: 106-114, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773955
15.
Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.
JCO Precis Oncol
; 7: e2200695, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37535880
16.
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
JAMA Netw Open
; 6(10): e2339571, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878314
17.
Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.
JAMA Netw Open
; 6(10): e2338995, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870835
18.
Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.
Eur Urol Oncol
; 6(5): 477-483, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37574391
19.
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Front Genet
; 13: 867226, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35783293
20.
Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort.
HGG Adv
; 3(2): 100086, 2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35128484