Detalhe da pesquisa
1.
Studying the impact of translational genomic research: Lessons from eMERGE.
Am J Hum Genet
; 110(7): 1021-1033, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37343562
2.
The phenotype-genotype reference map: Improving biobank data science through replication.
Am J Hum Genet
; 110(9): 1522-1533, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607538
3.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Am J Hum Genet
; 110(11): 1950-1958, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883979
4.
The Role of Electronic Health Records in Advancing Genomic Medicine.
Annu Rev Genomics Hum Genet
; 22: 219-238, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038146
5.
Diagnostic delay in monogenic disease: A scoping review.
Genet Med
; 26(4): 101074, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243783
6.
Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.
Ann Intern Med
; 176(5): 585-595, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37155986
7.
Evaluating and mitigating bias in machine learning models for cardiovascular disease prediction.
J Biomed Inform
; 138: 104294, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706849
8.
Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.
Genet Med
; 24(5): 1017-1026, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227606
9.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Genet Med
; 24(5): 1130-1138, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216901
10.
ConceptWAS: A high-throughput method for early identification of COVID-19 presenting symptoms and characteristics from clinical notes.
J Biomed Inform
; 117: 103748, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33774203
11.
A retrospective approach to evaluating potential adverse outcomes associated with delay of procedures for cardiovascular and cancer-related diagnoses in the context of COVID-19.
J Biomed Inform
; 113: 103657, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309899
12.
CYP2C19 Loss-of-Function is Associated with Increased Risk of Ischemic Stroke after Transient Ischemic Attack in Intracranial Atherosclerotic Disease.
J Stroke Cerebrovasc Dis
; 30(2): 105464, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246208
13.
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.
Genet Epidemiol
; 43(1): 63-81, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298529
14.
Pharmacogenomics.
Lancet
; 394(10197): 521-532, 2019 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395440
15.
Building evidence and measuring clinical outcomes for genomic medicine.
Lancet
; 394(10198): 604-610, 2019 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395443
16.
Genomic medicine for undiagnosed diseases.
Lancet
; 394(10197): 533-540, 2019 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395441
17.
Cost-effectiveness of CYP2C19-guided antiplatelet therapy in patients with acute coronary syndrome and percutaneous coronary intervention informed by real-world data.
Pharmacogenomics J
; 20(5): 724-735, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042096
18.
Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation.
Circ Res
; 122(9): 1176-1190, 2018 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700066
19.
Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.
Genet Med
; 21(10): 2255-2263, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894703
20.
Web Exclusive. Annals On Call - When Might Genomic Screening Be Cost-Effective?
Ann Intern Med
; 176(8): eA220015, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37523693