Detalhe da pesquisa
1.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Eur Heart J
; 43(15): 1500-1510, 2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34557911
2.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Circulation
; 141(6): 418-428, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983240
3.
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
4.
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
5.
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.
Am J Med Genet A
; 185(8): 2464-2470, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949776
6.
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
7.
A common co-morbidity modulates disease expression and treatment efficacy in inherited cardiac sodium channelopathy.
Eur Heart J
; 39(31): 2898-2907, 2018 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718149
8.
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.
Genes Chromosomes Cancer
; 55(4): 350-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26799435
9.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 786, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588455
10.
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
11.
Pregnancy in Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC Clin Electrophysiol
; 5(3): 387-394, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898243
12.
Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases.
Circ Genom Precis Med
; 11(10): e001797, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30354299
13.
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
Am Heart J
; 154(6): 1130-9, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18035086
14.
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
15.
Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus.
Heart Rhythm
; 13(4): 905-12, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681609
16.
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Cardiovasc Res
; 106(3): 520-9, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691538
17.
Outcome in phospholamban R14del carriers: results of a large multicentre cohort study.
Circ Cardiovasc Genet
; 7(4): 455-65, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24909667
18.
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
Eur J Heart Fail
; 15(4): 376-84, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23183350
19.
Mortality of inherited arrhythmia syndromes: insight into their natural history.
Circ Cardiovasc Genet
; 5(2): 183-9, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22373669
20.
Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.
J Am Coll Cardiol
; 58(23): 2406-14, 2011 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22115648