Detalhe da pesquisa
1.
The Translational Landscape of the Human Heart.
Cell
; 178(1): 242-260.e29, 2019 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155234
2.
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
Am J Hum Genet
; 110(9): 1482-1495, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37652022
3.
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Am J Hum Genet
; 108(6): 1083-1094, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022131
4.
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
5.
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Circulation
; 146(15): 1123-1134, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36154167
6.
Cardiomyocyte-Restricted Expression of IL11 Causes Cardiac Fibrosis, Inflammation, and Dysfunction.
Int J Mol Sci
; 24(16)2023 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37629170
7.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983221
8.
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
9.
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
10.
Widespread Translational Control of Fibrosis in the Human Heart by RNA-Binding Proteins.
Circulation
; 140(11): 937-951, 2019 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31284728
11.
Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.
Circulation
; 140(1): 31-41, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987448
12.
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Genet Med
; 21(1): 133-143, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29892087
13.
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
14.
New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.
Circulation
; 144(9): 754-757, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34460321
15.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Am J Hum Genet
; 104(1): 187-190, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609406
16.
Using high-resolution variant frequencies to empower clinical genome interpretation.
Genet Med
; 19(10): 1151-1158, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28518168
17.
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
Nature
; 478(7367): 114-8, 2011 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21979051
18.
FineSplice, enhanced splice junction detection and quantification: a novel pipeline based on the assessment of diverse RNA-Seq alignment solutions.
Nucleic Acids Res
; 42(8): e71, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24574529
19.
Truncations of titin causing dilated cardiomyopathy.
N Engl J Med
; 366(7): 619-28, 2012 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22335739
20.
AMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatment.
Cardiovasc Drugs Ther
; 28(2): 183-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24431031