Detalhe da pesquisa
1.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983221
2.
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
3.
Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.
Circulation
; 140(1): 31-41, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987448
4.
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
5.
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Eur Heart J
; 38(46): 3461-3468, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082330
6.
Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements.
Am J Hum Genet
; 93(5): 876-90, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183450
7.
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.
PLoS Genet
; 7(2): e1002003, 2011 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21304890
8.
Multimodal profiling reveals tissue-directed signatures of human immune cells altered with age.
bioRxiv
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260588
9.
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Genome Med
; 11(1): 5, 2019 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696458
10.
Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
J Am Coll Cardiol
; 71(20): 2293-2302, 2018 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29773157
11.
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.
Cold Spring Harb Mol Case Stud
; 3(1): a001271, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050600
12.
Mapping cis- and trans-regulatory effects across multiple tissues in twins.
Nat Genet
; 44(10): 1084-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22941192