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.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108757
3.
Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.
Am J Hum Genet
; 105(3): 526-533, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422818
4.
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
5.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120153
6.
Genomic considerations for FHIR®; eMERGE implementation lessons.
J Biomed Inform
; 118: 103795, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930535
7.
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
8.
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 2014, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34408292
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.
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
HGG Adv
; 4(4): 100226, 2023 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37593415
11.
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Circ Genom Precis Med
; 16(2): e003816, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071725
12.
Genetic Sex Validation for Sample Tracking in Clinical Testing.
Res Sq
; 2023 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37790445
13.
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
JAMA Oncol
; 8(6): 835-844, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446370
14.
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Genes (Basel)
; 12(4)2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921607
15.
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
J Am Heart Assoc
; 9(11): e016195, 2020 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32458740
16.
The effect of genetic variation of the serotonin 1B receptor gene on impulsive aggressive behavior and suicide.
Am J Med Genet B Neuropsychiatr Genet
; 144B(8): 996-1002, 2007 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17510950
17.
Characterization of impulsivity in suicide completers: clinical, behavioral and psychosocial dimensions.
J Affect Disord
; 92(2-3): 195-204, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16545465
18.
Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus.
Autoimmunity
; 47(1): 40-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24117221
19.
Study of transcriptional effects in Cis at the IFIH1 locus.
PLoS One
; 5(7): e11564, 2010 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20644636