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.
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Circulation
; 144(1): 7-19, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33947203
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.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Genetics of sudden cardiac death.
Circ Res
; 116(12): 1919-36, 2015 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26044248
11.
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
12.
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
13.
Ruptured aneurysm of the right coronary sinus of Valsalva in a child with Down syndrome.
Cardiol Young
; 24(2): 376-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23594487
14.
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Nat Commun
; 13(1): 5144, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050321
15.
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
16.
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Nat Genet
; 53(2): 128-134, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495596
17.
Genome-wide association studies of cardiac electrical phenotypes.
Cardiovasc Res
; 116(9): 1620-1634, 2020 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32428210
18.
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.
Eur J Hum Genet
; 28(1): 17-22, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534214
19.
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
Nat Genet
; 52(12): 1314-1332, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33230300
20.
A child with a white pupil.
JAMA
; 311(17): 1799-800, 2014 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24794374