Detalhe da pesquisa
1.
Genome-wide association studies of cardiovascular disease.
Physiol Rev
; 103(3): 2039-2055, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36634218
2.
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Eur Heart J
; 44(48): 5146-5158, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37431535
3.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Eur Heart J
; 43(15): 1500-1510, 2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34557911
4.
Variant Intronic Enhancer Controls SCN10A-short Expression and Heart Conduction.
Circulation
; 144(3): 229-242, 2021 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910361
5.
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Circulation
; 144(1): 7-19, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33947203
6.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983221
7.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation
; 142(4): 324-338, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32429735
8.
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Genet Med
; 23(5): 856-864, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500567
9.
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Genet Med
; 23(1): 69-79, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046849
10.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genet Med
; 23(1): 47-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893267
11.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
12.
When genetic burden reaches threshold.
Eur Heart J
; 41(39): 3849-3855, 2020 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350504
13.
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
14.
Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.
Circulation
; 140(1): 31-41, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987448
15.
Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.
Cardiovasc Drugs Ther
; 34(2): 241-253, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32080787
16.
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Genet Med
; 21(2): 284-292, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875424
17.
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Genet Med
; 21(7): 1576-1584, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531895
18.
Emery-Dreifuss muscular dystrophy: a closer look at cardiac complications.
Eur Heart J
; 44(48): 5074-5076, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37941127
19.
First Steps of Population Genomic Medicine in the Arrhythmia World: Pros and Cons.
Circulation
; 145(12): 892-895, 2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312384
20.
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Genet Med
; 20(10): 1246-1254, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29369293