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Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation

Current opinion in genetics & development, 2022-12, Vol.77, p.102004-102004, Article 102004

Glazer, Andrew M

2022

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Comparison of HLA allelic imputation programs

PloS one, 2017-02, Vol.12 (2), p.e0172444-e0172444

2017

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A Bayesian method to estimate variant-induced disease penetrance

PLoS genetics, 2020-06, Vol.16 (6), p.e1008862-e1008862

2020

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High-Throughput Reclassification of SCN5A Variants

American journal of human genetics, 2020-07, Vol.107 (1), p.111-123

2020

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Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension

Journal of the American College of Cardiology, 2016-12, Vol.68 (23), p.2525-2536

2016

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Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

Science translational medicine, 2017-05, Vol.9 (389)

2017

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Increased long QT and torsade de pointes reporting on tamoxifen compared with aromatase inhibitors

Heart (British Cardiac Society), 2018-11, Vol.104 (22), p.1859-1863

2018

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Hypogonadism as a Reversible Cause of Torsades de Pointes in Men

Circulation (New York, N.Y.), 2018-07, Vol.138 (1), p.110-113

2018

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ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants

Nature communications, 2024-09, Vol.15 (1), p.8320-15, Article 8320

2024

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Androgenic Effects on Ventricular Repolarization: A Translational Study From the International Pharmacovigilance Database to iPSC-Cardiomyocytes

Circulation (New York, N.Y.), 2019-09, Vol.140 (13), p.1070-1080

2019

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Modular skeletal evolution in sticklebacks is controlled by additive and clustered quantitative trait Loci

Genetics (Austin), 2014-05, Vol.197 (1), p.405-420

2014

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High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1

Heart rhythm, 2020-12, Vol.17 (12), p.2180-2189

2020

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A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel

Structure (London), 2018-05, Vol.26 (5), p.683-694.e3

2018

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The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block

Cardiovascular research, 2024-05, Vol.120 (7), p.735-744

2024

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Minimum information and guidelines for reporting a multiplexed assay of variant effect

Genome Biology, 2024-04, Vol.25 (1), p.100-8, Article 100

2024

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Veratridine Can Bind to a Site at the Mouth of the Channel Pore at Human Cardiac Sodium Channel NaV1.5

International journal of molecular sciences, 2022-02, Vol.23 (4), p.2225

2022

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Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes

JAMA cardiology, 2021-12, Vol.6 (12), p.1371

2021

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A de novo arrhythmogenic Nav1.5 variant, E171Q, causes multiple biophysical defects

Biophysical journal, 2023-02, Vol.122 (3), p.99a-99a

2023

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Dominant negative effects of SCN5A missense variants

Genetics in medicine, 2022-06, Vol.24 (6), p.1238-1248

2022

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Genome Assembly Improvement and Mapping Convergently Evolved Skeletal Traits in Sticklebacks with Genotyping-by-Sequencing

G3 : genes - genomes - genetics, 2015-06, Vol.5 (7), p.1463-1472

2015

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Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome

Heart rhythm, 2019-11, Vol.16 (11), p.1686-1695

2019

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Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias

Circulation (New York, N.Y.), 2022-01, Vol.145 (4), p.299-308

2022

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Arrhythmia genetics: Not dark and lite, but 50 shades of gray

Heart rhythm, 2018-08, Vol.15 (8), p.1231-1232

2018

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Distinct developmental genetic mechanisms underlie convergently evolved tooth gain in sticklebacks

Development (Cambridge), 2015-07, Vol.142 (14), p.2442-2451

2015

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Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation

Comparison of HLA allelic imputation programs

A Bayesian method to estimate variant-induced disease penetrance

High-Throughput Reclassification of SCN5A Variants

Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

Increased long QT and torsade de pointes reporting on tamoxifen compared with aromatase inhibitors

Hypogonadism as a Reversible Cause of Torsades de Pointes in Men

ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants

Androgenic Effects on Ventricular Repolarization: A Translational Study From the International Pharmacovigilance Database to iPSC-Cardiomyocytes

Modular skeletal evolution in sticklebacks is controlled by additive and clustered quantitative trait Loci

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel

The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block

Minimum information and guidelines for reporting a multiplexed assay of variant effect

Veratridine Can Bind to a Site at the Mouth of the Channel Pore at Human Cardiac Sodium Channel NaV1.5

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes

A de novo arrhythmogenic Nav1.5 variant, E171Q, causes multiple biophysical defects

Dominant negative effects of SCN5A missense variants

Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization

Genome Assembly Improvement and Mapping Convergently Evolved Skeletal Traits in Sticklebacks with Genotyping-by-Sequencing

Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome

Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias

Arrhythmia genetics: Not dark and lite, but 50 shades of gray

Distinct developmental genetic mechanisms underlie convergently evolved tooth gain in sticklebacks

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