Detalhe da pesquisa
1.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Am J Hum Genet
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38688278
2.
Opposing effects of genetic variation in MTCH2 for obesity versus heart failure.
Hum Mol Genet
; 32(1): 15-29, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904451
3.
Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.
J Mol Cell Cardiol
; 169: 28-40, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533732
4.
Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression.
Circulation
; 143(13): 1302-1316, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478249
5.
Genetically based atrial fibrillation: Current considerations for diagnosis and management.
J Cardiovasc Electrophysiol
; 33(8): 1944-1953, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262243
6.
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
Am J Med Genet A
; 185(8): 2496-2501, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003581
7.
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.
Genet Epidemiol
; 43(1): 63-81, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298529
8.
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
Hum Mol Genet
; 26(12): 2258-2276, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28398466
9.
Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.
Circulation
; 136(16): 1477-1491, 2017 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28778945
10.
Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.
Hum Mol Genet
; 24(15): 4284-95, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25948554
11.
Pathogenic genes associated with sudden unexpected death in pediatrics.
J Pediatr
; 249: 117-120, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36216474
12.
Genome-wide association for heart failure: from discovery to clinical use.
Eur Heart J
; 42(20): 2012-2014, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851998
13.
Supercomputing for the parallelization of whole genome analysis.
Bioinformatics
; 30(11): 1508-13, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24526712
14.
Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.
Circ J
; 79(7): 1409-15, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040335
15.
Identification of Clinical Drivers of Left Atrial Enlargement Through Genomics of Left Atrial Size.
Circ Heart Fail
; 17(1): e010557, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38126226
16.
Risk factors affecting polygenic score performance across diverse cohorts.
medRxiv
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645167
17.
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Genome Med
; 16(1): 13, 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229148
18.
Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index.
Pac Symp Biocomput
; 28: 437-448, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36540998
19.
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034657
20.
Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum.
medRxiv
; 2023 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503172