Detalhe da pesquisa
1.
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.
Eur Heart J
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747976
2.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Eur Heart J
; 44(35): 3357-3370, 2023 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528649
3.
An International Multicenter Cohort Study on ß-Blockers for the Treatment of Symptomatic Children With Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation
; 145(5): 333-344, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34874747
4.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Hum Mutat
; 43(9): 1333-1342, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819174
5.
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
6.
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
7.
The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity.
Circ Res
; 121(5): 537-548, 2017 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28637782
8.
Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome.
Europace
; 20(12): 2014-2020, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688407
9.
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Hum Mol Genet
; 24(10): 2757-63, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650408
10.
PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.
Circulation
; 130(2): 147-60, 2014 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24895455
11.
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
Basic Res Cardiol
; 109(6): 446, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341504
12.
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Stem Cell Res
; 77: 103396, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522388
13.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Nat Commun
; 15(1): 3380, 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643172
14.
Associations of schizophrenia with arrhythmic disorders and electrocardiogram traits: an in-depth genetic exploration of population samples.
medRxiv
; 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292618
15.
Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model.
Cardiovasc Res
; 119(3): 759-771, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001550
16.
Left Ventricular Abnormal Substrate in Brugada Syndrome.
JACC Clin Electrophysiol
; 9(10): 2041-2051, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480873
17.
Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome.
JACC Clin Electrophysiol
; 9(8 Pt 1): 1248-1261, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37227351
18.
FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells.
STAR Protoc
; 3(4): 101680, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115027
19.
Generation of human induced pluripotent stem cell lines from four unrelated healthy control donors carrying European genetic background.
Stem Cell Res
; 59: 102647, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999420
20.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Nat Genet
; 54(3): 232-239, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210625