Detalhe da pesquisa
1.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Circ Res
; 130(2): 166-180, 2022 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886679
2.
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
3.
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
4.
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Am J Med Genet A
; 179(9): 1836-1845, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301121
5.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522030
6.
Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries.
Int J Cardiol
; 371: 153-159, 2023 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36108765
7.
Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.
Circ Genom Precis Med
; 16(4): 328-336, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37199186
8.
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
J Clin Invest
; 131(5)2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33645542
9.
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Circ Genom Precis Med
; 13(6): e002911, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33164571
10.
Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death: Single-Center Experience With 482 Families.
JACC Clin Electrophysiol
; 3(12): 1400-1408, 2017 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29759671