Search details
1.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37534744
2.
Racial disparities in cascade testing for cancer predisposition genes.
Prev Med
; 172: 107539, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37156429
3.
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Cancer
; 128(4): 675-684, 2022 02 15.
Article
in English
| MEDLINE | ID: mdl-34724198
4.
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.
Article
in English
| MEDLINE | ID: mdl-36094610
5.
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.
Article
in English
| MEDLINE | ID: mdl-31830327
6.
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.
Article
in English
| MEDLINE | ID: mdl-34404389
7.
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.
Article
in English
| MEDLINE | ID: mdl-31342140
8.
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.
Article
in English
| MEDLINE | ID: mdl-34732190
9.
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
Epilepsia Open
; 9(1): 439-444, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38071479
10.
Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.
Urology
; 176: 106-114, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36773955
11.
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.
Article
in English
| MEDLINE | ID: mdl-37535880
12.
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
JAMA Netw Open
; 6(10): e2339571, 2023 10 02.
Article
in English
| MEDLINE | ID: mdl-37878314
13.
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.
Article
in English
| MEDLINE | ID: mdl-37574391
14.
Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers.
Cancers (Basel)
; 14(23)2022 Nov 29.
Article
in English
| MEDLINE | ID: mdl-36497357
15.
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.
Fam Cancer
; 21(3): 305-308, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34622392
16.
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.
Article
in English
| MEDLINE | ID: mdl-35128484
17.
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Front Genet
; 13: 867226, 2022.
Article
in English
| MEDLINE | ID: mdl-35783293
18.
Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
JCO Precis Oncol
; 6: e2200517, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36370464
19.
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
JAMA Cardiol
; 7(9): 966-974, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-35947370
20.
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.
JAMA Netw Open
; 5(10): e2238167, 2022 10 03.
Article
in English
| MEDLINE | ID: mdl-36279135