Detalhe da pesquisa
1.
Genome-wide association studies of cardiovascular disease.
Physiol Rev
; 103(3): 2039-2055, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36634218
2.
The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction.
Circ Res
; 134(1): 46-59, 2024 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38095085
3.
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Hum Mol Genet
; 32(7): 1072-1082, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269083
4.
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
5.
Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs.
Circ Res
; 129(3): 349-365, 2021 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092082
6.
Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.
Int J Mol Sci
; 24(21)2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958923
7.
Variant Intronic Enhancer Controls SCN10A-short Expression and Heart Conduction.
Circulation
; 144(3): 229-242, 2021 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910361
8.
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
9.
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
10.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
11.
Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.
Europace
; 23(5): 775-780, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33324992
12.
When genetic burden reaches threshold.
Eur Heart J
; 41(39): 3849-3855, 2020 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350504
13.
Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders
Circulation
; 140(7): 595-610, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403841
14.
Functional modulation of atrio-ventricular conduction by enhanced late sodium current and calcium-dependent mechanisms in Scn5a1798insD/+ mice.
Europace
; 22(10): 1579-1589, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778883
15.
Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores.
Eur Heart J
; 40(37): 3097-3107, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504448
16.
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Eur Heart J
; 40(35): 2964-2975, 2019 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170290
17.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Int J Mol Sci
; 21(7)2020 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276429
18.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523599
19.
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
20.
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