Detalhe da pesquisa
1.
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
2.
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Am J Hum Genet
; 105(1): 177-188, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256874
3.
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
4.
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
5.
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
6.
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Hum Mutat
; 37(1): 119-26, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26444186
7.
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.
Genet Med
; 18(7): 712-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681316
8.
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Genet Med
; 16(8): 601-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24503780
9.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
BMC Res Notes
; 17(1): 62, 2024 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433186
10.
Genetic Sex Validation for Sample Tracking in Clinical Testing.
Res Sq
; 2023 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37790445
11.
The Evolution of a Large Biobank at Mass General Brigham.
J Pers Med
; 12(8)2022 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013271
12.
Remote Fingerstick Blood Collection for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Antibody Testing.
Arch Pathol Lab Med
; 145(4): 415-418, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33264390
13.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
J Mol Diagn
; 23(5): 589-598, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631351
14.
The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.
J Pers Med
; 6(1)2016 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26927185
15.
Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.
J Pers Med
; 6(1)2016 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805890
16.
The Information Technology Infrastructure for the Translational Genomics Core and the Partners Biobank at Partners Personalized Medicine.
J Pers Med
; 6(1)2016 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805892
17.
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Mol Genet Genomic Med
; 4(2): 143-51, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066507
18.
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
J Mol Diagn
; 16(6): 639-47, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25157971