Detalhe da pesquisa
1.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
2.
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
Am J Hum Genet
; 108(4): 696-708, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743207
3.
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
Am J Med Genet A
; 188(9): 2642-2651, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570716
4.
Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.
Gynecol Oncol
; 166(2): 344-350, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35691755
5.
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.
Pediatr Cardiol
; 43(3): 616-623, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714385
6.
Validation and clinical discovery demonstration of breast cancer data from a real-world data extraction platform.
JAMIA Open
; 7(2): ooae041, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766645
7.
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
8.
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
9.
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
JAMA Cardiol
; 7(9): 966-974, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947370
10.
Scalable detection of technically challenging variants through modified next-generation sequencing.
Mol Genet Genomic Med
; 10(12): e2072, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251442
11.
Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.
Obstet Gynecol
; 138(6): 860-870, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34735417
12.
Unmanaged Pharmacogenomic and Drug Interaction Risk Associations with Hospital Length of Stay among Medicare Advantage Members with COVID-19: A Retrospective Cohort Study.
J Pers Med
; 11(11)2021 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34834543
13.
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
JAMA Cardiol
; 6(8): 902-909, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037665
14.
Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy.
Circ Genom Precis Med
; 17(1): e004028, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088168
15.
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Circ Genom Precis Med
; 14(1): e003206, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517668