Detalhe da pesquisa
1.
Improved provider preparedness through an 8-part genetics and genomic education program.
Genet Med
; 24(1): 214-224, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906462
2.
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Am J Hum Genet
; 103(3): 328-337, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100086
3.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727688
4.
Hereditary cancer genes are highly susceptible to splicing mutations.
PLoS Genet
; 14(3): e1007231, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29505604
5.
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.
Circulation
; 140(1): 42-54, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216868
6.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Am J Hum Genet
; 100(6): 895-906, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552198
7.
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
N Engl J Med
; 377(3): 211-221, 2017 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28538136
8.
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
N Engl J Med
; 374(12): 1123-33, 2016 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933753
9.
Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.
Genet Med
; 21(6): 1417-1424, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449888
10.
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.
Circ Res
; 121(1): 81-88, 2017 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28506971
11.
Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.
PLoS Med
; 15(8): e1002650, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30114233
12.
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.
PLoS Med
; 15(8): e1002631, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30071015
13.
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100803, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920474
14.
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genet Med
; 20(5): 554-558, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261187
15.
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Ann Intern Med
; 167(3): 159-169, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28654958
16.
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.
JAMA
; 320(22): 2354-2364, 2018 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535219
17.
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
Hum Genet
; 136(9): 1303-1312, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780672
18.
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Genet Med
; 19(11): 1245-1252, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471438
19.
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.
JAMA
; 317(9): 937-946, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28267856
20.
A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE ε4 allele carriers.
BMC Genomics
; 17 Suppl 2: 445, 2016 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27358062