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Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in The Netherlands

Heart rhythm, 2010-10, Vol.7 (10), p.1383-1389

2010

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene

Circulation (New York, N.Y.), 2007-05, Vol.115 (19), p.2481-2489

2007

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Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

Journal of the American College of Cardiology, 2009-11, Vol.54 (22), p.2052-2062

2009

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Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up

Heart rhythm, 2014-10, Vol.11 (10), p.1728-1732

2014

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Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

International journal of cardiology, 2017-06, Vol.236, p.187-193

2017

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Diagnostic Accuracy of the Standing Test in Adults Suspected for Congenital Long-QT Syndrome

Journal of the American Heart Association, 2023-07, Vol.12 (14), p.e026419-e026419

2023

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Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1160-1166

2016

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Diagnostic Value of Flecainide Testing in Unmasking SCN5A-Related Brugada Syndrome

Journal of cardiovascular electrophysiology, 2006-08, Vol.17 (8), p.857-864

2006

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Contribution of inherited heart disease to sudden cardiac death in childhood

Pediatrics (Evanston), 2007-10, Vol.120 (4), p.e967-e973

2007

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Role of Genetic Testing in Patients with Ventricular Arrhythmias in Apparently Normal Hearts

Cardiac electrophysiology clinics, 2016-09, Vol.8 (3), p.515-523

2016

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Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study

Circulation (New York, N.Y.), 2016-09, Vol.134 (12), p.872-882

2016

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The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

Pediatric cardiology, 2010-05, Vol.31 (4), p.462-468

2010

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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis

Journal of the American College of Cardiology, 2009-11, Vol.54 (22), p.2065-2074

2009

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Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events: Implications for Mutation-Specific Response to β-Blocker Therapy in Type 1 Long-QT Syndrome

Circulation (New York, N.Y.), 2012-04, Vol.125 (16), p.1988-1996

2012

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Yield of Molecular and Clinical Testing for Arrhythmia Syndromes: Report of 15 Years’ Experience

Circulation (New York, N.Y.), 2013-10, Vol.128 (14), p.1513-1521

2013

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Active Cascade Screening in Primary Inherited Arrhythmia Syndromes: Does It Lead to Prophylactic Treatment?

Journal of the American College of Cardiology, 2010-06, Vol.55 (23), p.2570-2576

2010

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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

European heart journal, 2012-03, Vol.33 (6), p.714-723

2012

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Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia: Disease Penetrance and Expression in Cardiac Ryanodine Receptor Mutation–Carrying Relatives

Circulation. Arrhythmia and electrophysiology, 2012-08, Vol.5 (4), p.748-756

2012

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Effect of Age and Sex on the QTc Interval in Children and Adolescents With Type 1 and 2 Long-QT Syndrome

Circulation. Arrhythmia and electrophysiology, 2017-04, Vol.10 (4), p.e004645-e004645

2017

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Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

Circulation. Cardiovascular genetics, 2015-06, Vol.8 (3), p.447-456

2015

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Journal of medical genetics, 2013-09, Vol.50 (9), p.614-626

2013

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Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?

European heart journal, 2007-03, Vol.28 (5), p.575-580

2007

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Sodium Channelopathies: Do We Really Understand What's Going On?

Journal of cardiovascular electrophysiology, 2011-05, Vol.22 (5), p.590-593

2011

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Phenotypic Variability in Caucasian and Japanese Patients with Matched LQT1 Mutations

Annals of noninvasive electrocardiology, 2008-07, Vol.13 (3), p.234-241

2008

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Premature sudden death--consider serious familial heart rhythm disturbances

Nederlands tijdschrift voor geneeskunde, 2011, Vol.155 (39), p.A3391

2011

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Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in The Netherlands

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene

Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

Diagnostic Accuracy of the Standing Test in Adults Suspected for Congenital Long-QT Syndrome

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

Diagnostic Value of Flecainide Testing in Unmasking SCN5A-Related Brugada Syndrome

Contribution of inherited heart disease to sudden cardiac death in childhood

Role of Genetic Testing in Patients with Ventricular Arrhythmias in Apparently Normal Hearts

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study

The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events: Implications for Mutation-Specific Response to β-Blocker Therapy in Type 1 Long-QT Syndrome

Yield of Molecular and Clinical Testing for Arrhythmia Syndromes: Report of 15 Years’ Experience

Active Cascade Screening in Primary Inherited Arrhythmia Syndromes: Does It Lead to Prophylactic Treatment?

Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia: Disease Penetrance and Expression in Cardiac Ryanodine Receptor Mutation–Carrying Relatives

Effect of Age and Sex on the QTc Interval in Children and Adolescents With Type 1 and 2 Long-QT Syndrome

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?

Sodium Channelopathies: Do We Really Understand What's Going On?

Phenotypic Variability in Caucasian and Japanese Patients with Matched LQT1 Mutations

Premature sudden death--consider serious familial heart rhythm disturbances

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