Detalhe da pesquisa
1.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Annu Rev Genomics Hum Genet
; 24: 151-176, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37285546
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.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983221
4.
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
5.
Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.
Circulation
; 140(1): 31-41, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987448
6.
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
N Engl J Med
; 374(3): 233-41, 2016 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26735901
7.
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Circ Res
; 115(10): 884-896, 2014 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205790
8.
Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.
Circulation
; 130(14): 1158-67, 2014 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25078086
9.
Using next-generation RNA sequencing to examine ischemic changes induced by cold blood cardioplegia on the human left ventricular myocardium transcriptome.
Anesthesiology
; 122(3): 537-50, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25581909
10.
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
11.
ViroFind: A novel target-enrichment deep-sequencing platform reveals a complex JC virus population in the brain of PML patients.
PLoS One
; 13(1): e0186945, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29360822
12.
The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle.
Circ Cardiovasc Genet
; 10(1)2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28115490
13.
Digital Droplet PCR: CNV Analysis and Other Applications.
Curr Protoc Hum Genet
; 82: 7.24.1-7.24.13, 2014 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25042719
14.
Optimization of protocol for sequencing of difficult templates.
J Biomol Tech
; 21(2): 97-102, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20592873