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A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome

Heart rhythm, 2022-03, Vol.19 (3), p.435-442

2022

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B-PO04-169 ROLE OF CHRONIC, LONG TERM INTRAVENOUS LIDOCAINE IN THE CLINICAL MANAGEMENT OF PATIENTS WITH MALIGNANT TYPE 3 LONG QT SYNDROME

Heart rhythm, 2021-08, Vol.18 (8), p.S347-S347

2021

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PO-02-090 IMPLANTABLE CARDIOVERTER DEFIBRILLATOR THERAPY FOR CHANNELOPATHIES: A SINGLE CENTER EXPERIENCE

Heart rhythm, 2024-05, Vol.21 (5), p.S298-S298

2024

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PO-04-001 OUTCOMES OF PATIENTS SUBSEQUENTLY DIAGNOSED WITH CONGENITAL LONG QT SYNDROME AFTER PRESENTING WITH A SENTINEL EVENT OF SUDDEN CARDIAC ARREST

Heart rhythm, 2024-05, Vol.21 (5), p.S499-S499

2024

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Abstract 13568: Characterization of the Maladaptive QTc Response During the Treadmill Exercise Test in Untreated Patients With Long QT Syndrome

Circulation (New York, N.Y.), 2022-11, Vol.146 (Suppl_1)

2022

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Abstract 12069: Spectrum and Prevalence of Attention Deficit Hyperactivity Disorder (ADHD) and Intentional ADHD-Directed Pharmacotherapy in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

Circulation (New York, N.Y.), 2022-11, Vol.146 (Suppl_1)

2022

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Abstract 12044: Injectable Contraceptive, Medroxyprogesterone Acetate, Produces Erratic Beating Patterns in Patient-Specific Re-Engineered Heart Cells With Type 2 Long QT Syndrome

Circulation (New York, N.Y.), 2022-11, Vol.146 (Suppl_1)

2022

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Abstract 12083: Highly Caffeinated Energy Drinks and Genetic Heart Disease-Associated Sudden Cardiac Arrest

Circulation (New York, N.Y.), 2022-11, Vol.146 (Suppl_1)

2022

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State of Gene Therapy for Monogenic Cardiovascular Diseases

Mayo Clinic proceedings, 2024-04, Vol.99 (4), p.610-629

2024

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SPECTRUM AND PREVALENCE OF COMPLICATIONS IN CONTEMPORARY LONG QT SYNDROME

Journal of the American College of Cardiology, 2022-03, Vol.79 (9), p.1363

2022

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PRECISION THERAPY IN CONGENITAL LONG QT SYNDROME

Journal of the American College of Cardiology, 2022-03, Vol.79 (9), p.1375

2022

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Dimerization of Yeast Ste14 Isoprenylcysteine Carboxyl Methyltransferase

The FASEB journal, 2019-04, Vol.33 (S1), p.461.17-461.17

2019

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Phenotypes of Overdiagnosed Long QT Syndrome

Journal of the American College of Cardiology, 2023-02, Vol.81 (5), p.477-486

2023

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Abstract 12808: Genetic Heart Disease and Gender-Affirming Hormone Therapy in Transgender Individuals: Potential Pro-Arrhythmic Considerations

Circulation (New York, N.Y.), 2022-11, Vol.146 (Suppl_1)

2022

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BS-513-01 SUPPRESSION-REPLACEMENT GENE THERAPY FOR SCN5A-MEDIATED TYPE 3 LONG QT SYNDROME

Heart rhythm, 2022-05, Vol.19 (5), p.S23-S23

2022

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Sex differences in atrial electrophysiology: IK1 is a major factor that is modulated by sex hormones

Biophysical journal, 2024-02, Vol.123 (3), p.315a-315a

2024

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Fatal Cardiac Arrhythmias During Electronic Gaming in Patients With Genetically Mediated Heart Diseases

Journal of the American College of Cardiology, 2023-08, Vol.82 (7), p.603-611

2023

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Sudden cardiac arrest occurring in temporal proximity to consumption of energy drinks

Heart rhythm, 2024-07, Vol.21 (7), p.1083-1088

2024

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PO-04-105 ELUCIDATION OF THE PREVALENCE, SPECTRUM, AND OUTCOMES IN PATIENTS WITH NON-PENETRANT LONG QT SYNDROME

Heart rhythm, 2023-05, Vol.20 (5), p.S595-S596

2023

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PO-01-240 UTILITY OF FUNCTIONAL CHARACTERIZATION IN THE PROMOTION OR DEMOTION OF CLINICALLY ENCOUNTERED VARIANTS OF UNCERTAIN SIGNIFICANCE IN THE THREE MOST COMMON LONG QT SYNDROME-CAUSATIVE GENES: , KCNH, AND

Heart rhythm, 2023-05, Vol.20 (5), p.S166

2023

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PO-03-231 BREAKTHROUGH CARDIAC EVENT RATE OF INITIALLY ASYMPTOMATIC LQTS PATIENTS

Heart rhythm, 2023-05, Vol.20 (5), p.S405-S405

2023

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PO-01-240 UTILITY OF IN VITRO FUNCTIONAL CHARACTERIZATION IN THE PROMOTION OR DEMOTION OF CLINICALLY ENCOUNTERED VARIANTS OF UNCERTAIN SIGNIFICANCE IN THE THREE MOST COMMON LONG QT SYNDROME-CAUSATIVE GENES: KCNQ1, KCNH2, AND SCN5A

Heart rhythm, 2023-05, Vol.20 (5), p.S166-S166

2023

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Abstract 14260: Suppression and Replacement Gene Therapy for Type 2 Long QT Syndrome

Circulation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1)

2021

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A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome

Mayo Clinic proceedings, 2019-05, Vol.94 (5), p.906-913

2019

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Precision therapy in congenital long QT syndrome

Trends in cardiovascular medicine, 2024-01, Vol.34 (1), p.39-47

2024

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A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome

B-PO04-169 ROLE OF CHRONIC, LONG TERM INTRAVENOUS LIDOCAINE IN THE CLINICAL MANAGEMENT OF PATIENTS WITH MALIGNANT TYPE 3 LONG QT SYNDROME

PO-02-090 IMPLANTABLE CARDIOVERTER DEFIBRILLATOR THERAPY FOR CHANNELOPATHIES: A SINGLE CENTER EXPERIENCE

PO-04-001 OUTCOMES OF PATIENTS SUBSEQUENTLY DIAGNOSED WITH CONGENITAL LONG QT SYNDROME AFTER PRESENTING WITH A SENTINEL EVENT OF SUDDEN CARDIAC ARREST

Abstract 13568: Characterization of the Maladaptive QTc Response During the Treadmill Exercise Test in Untreated Patients With Long QT Syndrome

Abstract 12069: Spectrum and Prevalence of Attention Deficit Hyperactivity Disorder (ADHD) and Intentional ADHD-Directed Pharmacotherapy in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

Abstract 12044: Injectable Contraceptive, Medroxyprogesterone Acetate, Produces Erratic Beating Patterns in Patient-Specific Re-Engineered Heart Cells With Type 2 Long QT Syndrome

Abstract 12083: Highly Caffeinated Energy Drinks and Genetic Heart Disease-Associated Sudden Cardiac Arrest

State of Gene Therapy for Monogenic Cardiovascular Diseases

SPECTRUM AND PREVALENCE OF COMPLICATIONS IN CONTEMPORARY LONG QT SYNDROME

PRECISION THERAPY IN CONGENITAL LONG QT SYNDROME

Dimerization of Yeast Ste14 Isoprenylcysteine Carboxyl Methyltransferase

Phenotypes of Overdiagnosed Long QT Syndrome

Abstract 12808: Genetic Heart Disease and Gender-Affirming Hormone Therapy in Transgender Individuals: Potential Pro-Arrhythmic Considerations

BS-513-01 SUPPRESSION-REPLACEMENT GENE THERAPY FOR SCN5A-MEDIATED TYPE 3 LONG QT SYNDROME

Sex differences in atrial electrophysiology: IK1 is a major factor that is modulated by sex hormones

Fatal Cardiac Arrhythmias During Electronic Gaming in Patients With Genetically Mediated Heart Diseases

Sudden cardiac arrest occurring in temporal proximity to consumption of energy drinks

PO-04-105 ELUCIDATION OF THE PREVALENCE, SPECTRUM, AND OUTCOMES IN PATIENTS WITH NON-PENETRANT LONG QT SYNDROME

PO-01-240 UTILITY OF FUNCTIONAL CHARACTERIZATION IN THE PROMOTION OR DEMOTION OF CLINICALLY ENCOUNTERED VARIANTS OF UNCERTAIN SIGNIFICANCE IN THE THREE MOST COMMON LONG QT SYNDROME-CAUSATIVE GENES: , KCNH, AND

PO-03-231 BREAKTHROUGH CARDIAC EVENT RATE OF INITIALLY ASYMPTOMATIC LQTS PATIENTS

PO-01-240 UTILITY OF IN VITRO FUNCTIONAL CHARACTERIZATION IN THE PROMOTION OR DEMOTION OF CLINICALLY ENCOUNTERED VARIANTS OF UNCERTAIN SIGNIFICANCE IN THE THREE MOST COMMON LONG QT SYNDROME-CAUSATIVE GENES: KCNQ1, KCNH2, AND SCN5A

Abstract 14260: Suppression and Replacement Gene Therapy for Type 2 Long QT Syndrome

A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome

Precision therapy in congenital long QT syndrome

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