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A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

Journal of the American College of Cardiology, 2014-01, Vol.63 (3), p.259-266

2014

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Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

Journal of the American College of Cardiology, 2011-05, Vol.57 (22), p.2244-2254

2011

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Left Cardiac Sympathetic Denervation for Catecholaminergic Polymorphic Ventricular Tachycardia

The New England journal of medicine, 2008-05, Vol.358 (19), p.2024-2029

2008

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Editorial: Monogenic vs. Oligogenic Reclassification

Frontiers in genetics, 2021-12, Vol.12, p.821591-821591

2021

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Novel calmodulin mutations associated with congenital long qt syndrome affect calcium current in human cardiomyocytes

Heart rhythm, 2016-10, Vol.13 (10), p.2012-2019

2016

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Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

Heart rhythm, 2009-03, Vol.6 (3), p.341-348

2009

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Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

Circulation (New York, N.Y.), 2006-04, Vol.113 (13), p.1650-1658

2006

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A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

Human mutation, 2016-02, Vol.37 (2), p.194-200

2016

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A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome

PloS one, 2013-06, Vol.8 (6), p.e67963

2013

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Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy

Medicina (Kaunas, Lithuania), 2019-01, Vol.55 (1), p.17

2019

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Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

Swiss medical weekly, 2015-06, Vol.145, p.w14129

2015

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ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy

HeartRhythm case reports, 2020-01, Vol.6 (1), p.15-19

2020

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Discordance Between Germline and Blood Mosaicism in Calmodulinopathy

Circulation. Genomic and precision medicine, 2022-08, Vol.15 (4), p.101161CIRCGEN121003695-e003695

2022

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Molecular insight into heart development and congenital heart disease: An update review from the Arab countries

Trends in cardiovascular medicine, 2015-05, Vol.25 (4), p.291-301

2015

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Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes

Heart rhythm, 2018-10, Vol.15 (10), p.1575-1576

Bhuiyan, Zahurul A.

2018

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Genetic Mosaicism in Calmodulinopathy

Circulation. Genomic and precision medicine, 2019-09, Vol.12 (9), p.375-385

2019

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Silent mutation in long QT syndrome: Pathogenicity prediction by computer simulation

Heart rhythm, 2012-02, Vol.9 (2), p.283-284

Bhuiyan, Zahurul A., MD, PhD

2012

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Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

European heart journal, 2019-09, Vol.40 (35), p.2964-2975

2019

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Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

Heart rhythm, 2008-04, Vol.5 (4), p.553-561

2008

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Genotype and clinical characteristics of congenital long QT syndrome in Thailand

Indian pacing and electrophysiology journal, 2018-09, Vol.18 (5), p.165-171

2018

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De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome

Clinical genetics, 2014-11, Vol.86 (5), p.492-495

2014

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A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22

Journal of cardiovascular electrophysiology, 2007-10, Vol.18 (10), p.1060-1066

2007

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SCN5A overlap syndromes: An open-minded approach

Heart rhythm, 2022-08, Vol.19 (8), p.1363-1368

2022

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SCN5A mutations in atrial fibrillation

Heart rhythm, 2010-12, Vol.7 (12), p.1870-1871

2010

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A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

Left Cardiac Sympathetic Denervation for Catecholaminergic Polymorphic Ventricular Tachycardia

Editorial: Monogenic vs. Oligogenic Reclassification

Novel calmodulin mutations associated with congenital long qt syndrome affect calcium current in human cardiomyocytes

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy

Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy

Discordance Between Germline and Blood Mosaicism in Calmodulinopathy

Molecular insight into heart development and congenital heart disease: An update review from the Arab countries

Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes

Genetic Mosaicism in Calmodulinopathy

Silent mutation in long QT syndrome: Pathogenicity prediction by computer simulation

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

Genotype and clinical characteristics of congenital long QT syndrome in Thailand

De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome

A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22

SCN5A overlap syndromes: An open-minded approach

SCN5A mutations in atrial fibrillation

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