Detalhe da pesquisa
1.
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Am J Hum Genet
; 110(7): 1034-1045, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37279760
2.
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care.
Am J Hum Genet
; 110(11): 1841-1852, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37922883
3.
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
Am J Hum Genet
; 108(12): 2224-2237, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34752750
4.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
5.
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
6.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
J Med Genet
; 59(6): 571-578, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875564
7.
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Am J Hum Genet
; 104(1): 76-93, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609409
8.
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.
Genet Med
; 24(2): 454-462, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906510
9.
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
10.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Genet Med
; 23(7): 1372-1375, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772220
11.
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.
Genet Med
; 23(9): 1689-1696, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976420
12.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516855
13.
Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.
Transfusion
; 60(6): 1294-1307, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32473076
14.
Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes.
Vox Sang
; 115(8): 790-801, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32567058
15.
Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.
Circulation
; 147(20): 1556-1559, 2023 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186683
16.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181684
17.
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Genet Med
; 21(12): 2765-2773, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147632
18.
Variant classification changes over time in BRCA1 and BRCA2.
Genet Med
; 21(10): 2248-2254, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30971832
19.
Correction: Variant classification changes over time in BRCA1 and BRCA2.
Genet Med
; 21(10): 2406-2407, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31043710
20.
Automated typing of red blood cell and platelet antigens from whole exome sequences.
Transfusion
; 59(10): 3253-3263, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392742