Detalhe da pesquisa
1.
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.
Circulation
; 147(10): 824-840, 2023 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524479
2.
Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.
Circulation
; 145(4): 299-308, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994586
3.
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Circulation
; 145(12): 877-891, 2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930020
4.
High-Throughput Reclassification of SCN5A Variants.
Am J Hum Genet
; 107(1): 111-123, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533946
5.
A Bayesian method to estimate variant-induced disease penetrance.
PLoS Genet
; 16(6): e1008862, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32569262
6.
Dominant negative effects of SCN5A missense variants.
Genet Med
; 24(6): 1238-1248, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305865
7.
Veratridine Can Bind to a Site at the Mouth of the Channel Pore at Human Cardiac Sodium Channel NaV1.5.
Int J Mol Sci
; 23(4)2022 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216338
8.
Androgenic Effects on Ventricular Repolarization: A Translational Study From the International Pharmacovigilance Database to iPSC-Cardiomyocytes.
Circulation
; 140(13): 1070-1080, 2019 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31378084
9.
Distinct developmental genetic mechanisms underlie convergently evolved tooth gain in sticklebacks.
Development
; 142(14): 2442-51, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26062935
10.
Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults.
Pharmacogenet Genomics
; 27(7): 247-254, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28542097
11.
Hypogonadism as a Reversible Cause of Torsades de Pointes in Men.
Circulation
; 138(1): 110-113, 2018 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967236
12.
Two developmentally temporal quantitative trait loci underlie convergent evolution of increased branchial bone length in sticklebacks.
Proc Biol Sci
; 281(1788): 20140822, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24966315
13.
The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block.
Cardiovasc Res
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38442735
14.
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Genome Biol
; 25(1): 100, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641812
15.
Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis.
bioRxiv
; 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405820
16.
Guidelines for releasing a variant effect predictor.
ArXiv
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38699161
17.
Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification.
medRxiv
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370760
18.
ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
medRxiv
; 2023 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732247
19.
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
bioRxiv
; 2023 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162834
20.
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
ArXiv
; 2023 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37426450