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GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes

Circulation. Arrhythmia and electrophysiology, 2022-04, Vol.15 (4), p.e010326-e010326

2022

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes

Journal of the American Heart Association, 2022-10, Vol.11 (19), p.e025257-e025257

2022

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The Association of Race and Ethnicity with Mortality in Pediatric Patients with Congenital Heart Disease: a Systematic Review

Journal of racial and ethnic health disparities, 2024-08, Vol.11 (4), p.2182-2196

2024

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Variant R94C in TNNT2 -Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

Journal of the American Heart Association, 2020-03, Vol.9 (5), p.e015111-e015111

2020

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Management of Pulmonary Arterial Hypertension in the Pediatric Patient

Current cardiology reports, 2019-12, Vol.21 (12), p.162-162, Article 162

2019

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Postnatal Outcomes of Fetal SVT: Can We Predict the Future?

JACC. Clinical electrophysiology, 2022-09, Vol.8 (9), p.1152-1154

2022

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Decline of increased risk donor offers increases waitlist mortality in paediatric heart transplantation

Cardiology in the young, 2021-08, Vol.31 (8), p.1228-1237

2021

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Preprocedural three‐dimensional planning aids in transcatheter ductal stent placement: A single‐center experience

Catheterization and cardiovascular interventions, 2020-05, Vol.95 (6), p.1141-1148

2020

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Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies

Circulation. Genomic and precision medicine, 2021-08, Vol.14 (4), p.e003200-e003200

2021

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TBX5‐encoded T‐box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.923-929

2021

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ATP1A3 -Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia

Journal of the American Heart Association, 2021-09, Vol.10 (17), p.e019887-e019887

2021

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Junctional Ectopic Tachycardia Caused by Junctophilin-2 Expression Silencing Is Selectively Sensitive to Ryanodine Receptor Blockade

JACC. Basic to translational science, 2023-12, Vol.8 (12), p.1577-1588

2023

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B-PO04-025 SIGNAL-TO-NOISE ANALYSIS OF MISSENSE VARIANTS WITHIN TBX5 SUGGESTS PRESENCE OF PHENOTYPE EXPRESSION-SPECIFIC VARIANT HOTSPOTS

Heart rhythm, 2021-08, Vol.18 (8), p.S289-S289

2021

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Postnatal Outcomes of Fetal SVT

JACC. Clinical electrophysiology, 2022-09, Vol.8 (9), p.1152-1154

2022

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Abstract 12942: The D801N Variant in ATP1A3 -Encoded Na/K-atpase Alpha 3 Shortens the Cardiac Myocyte Action Potential and Increases Risk for Calcium Mediated Arrhythmias

Circulation (New York, N.Y.), 2023-11, Vol.148 (Suppl_1)

2023

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Pre-procedural Three-dimensional Planning Aids in Transcatheter Ductal Stent Placement: A Single-Center Experience

Catheterization and cardiovascular interventions, 2019-12, Vol.95 (6), p.1141-1148

2019

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Abstract 13579: TAX1BP3 -Encoding TAX1-Binding Protein 3 is a Novel Genetic Cause of Autosomal Recessive Arrhythmogenic Cardiomyopathy and Causes Pro-Arrhythmic Ryanodine Receptor 2-Mediated Calcium Leak

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

2022

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Abstract 15039: International Multicenter Registry Study of Patients With Variants in ATP1A3 -Encoded Sodium-Potassium ATPase 3 Finds an Association With Short QT and Life-Threatening Ventricular Arrhythmias

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

2022

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B-PO04-191 ASSOCIATION BETWEEN SHORTENED QT INTERVAL AND BRADYCARDIA WITH THE D801N VARIANT OF ATP1A3 IN PATIENTS WITH ALTERNATING HEMIPLEGIA OF CHILDHOOD

Heart rhythm, 2021-08, Vol.18 (8), p.S356-S357

2021

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italic toggle="no">ATP1A3 /italic>‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia

Journal of the American Heart Association, 2021-09, Vol.10 (17)

2021

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Abstract 13168: Refusal of Increased Risk Donor Offers Increases Waitlist Mortality in Pediatric Heart Transplantation

Circulation (New York, N.Y.), 2018-11, Vol.138 (Suppl_1 Suppl 1), p.A13168-A13168

2018

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Abstract 12139: The Mutation R94C InTNNT2-encoded Troponin T Predisposes to Restrictive Cardiomyopathy and Pediatric Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

Circulation (New York, N.Y.), 2019-11, Vol.140 (Suppl_1 Suppl 1), p.A12139-A12139

2019

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TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death

American journal of medical genetics. Part A, 2021, Vol.185 (3), p.923-929

2021

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GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes

The Association of Race and Ethnicity with Mortality in Pediatric Patients with Congenital Heart Disease: a Systematic Review

Variant R94C in TNNT2 -Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

Management of Pulmonary Arterial Hypertension in the Pediatric Patient

Postnatal Outcomes of Fetal SVT: Can We Predict the Future?

Decline of increased risk donor offers increases waitlist mortality in paediatric heart transplantation

Preprocedural three‐dimensional planning aids in transcatheter ductal stent placement: A single‐center experience

Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies

TBX5‐encoded T‐box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death

ATP1A3 -Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia

Junctional Ectopic Tachycardia Caused by Junctophilin-2 Expression Silencing Is Selectively Sensitive to Ryanodine Receptor Blockade

B-PO04-025 SIGNAL-TO-NOISE ANALYSIS OF MISSENSE VARIANTS WITHIN TBX5 SUGGESTS PRESENCE OF PHENOTYPE EXPRESSION-SPECIFIC VARIANT HOTSPOTS

Postnatal Outcomes of Fetal SVT

Abstract 12942: The D801N Variant in ATP1A3 -Encoded Na/K-atpase Alpha 3 Shortens the Cardiac Myocyte Action Potential and Increases Risk for Calcium Mediated Arrhythmias

Pre-procedural Three-dimensional Planning Aids in Transcatheter Ductal Stent Placement: A Single-Center Experience

Abstract 13579: TAX1BP3 -Encoding TAX1-Binding Protein 3 is a Novel Genetic Cause of Autosomal Recessive Arrhythmogenic Cardiomyopathy and Causes Pro-Arrhythmic Ryanodine Receptor 2-Mediated Calcium Leak

Abstract 15039: International Multicenter Registry Study of Patients With Variants in ATP1A3 -Encoded Sodium-Potassium ATPase 3 Finds an Association With Short QT and Life-Threatening Ventricular Arrhythmias

B-PO04-191 ASSOCIATION BETWEEN SHORTENED QT INTERVAL AND BRADYCARDIA WITH THE D801N VARIANT OF ATP1A3 IN PATIENTS WITH ALTERNATING HEMIPLEGIA OF CHILDHOOD

italic toggle="no">ATP1A3 /italic>‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia

Abstract 13168: Refusal of Increased Risk Donor Offers Increases Waitlist Mortality in Pediatric Heart Transplantation

Abstract 12139: The Mutation R94C InTNNT2-encoded Troponin T Predisposes to Restrictive Cardiomyopathy and Pediatric Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death

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