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Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

Mayo Clinic proceedings, 2012-06, Vol.87 (6), p.524-539

2012

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Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young

Circulation. Cardiovascular genetics, 2016-06, Vol.9 (3), p.259-265

2016

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Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

Mayo Clinic proceedings, 2014-06, Vol.89 (6), p.727-737

2014

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Long QT syndrome-associated mutations in intrauterine fetal death

JAMA : the journal of the American Medical Association, 2013-04, Vol.309 (14), p.1473

2013

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Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

Journal of the American College of Cardiology, 2010-04, Vol.55 (14), p.1444-1453

2010

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Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series

Mayo Clinic proceedings, 2011-10, Vol.86 (10), p.941-947

2011

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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

Heart rhythm, 2005-05, Vol.2 (5), p.507-517

2005

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Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

Circulation (New York, N.Y.), 2006-01, Vol.113 (3), p.365-373

2006

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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

Journal of the American College of Cardiology, 2004-11, Vol.44 (9), p.1903-1910

2004

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Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing

Journal of the American College of Cardiology, 2006-02, Vol.47 (4), p.764-768

2006

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Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes

Circulation (New York, N.Y.), 2004-10, Vol.110 (15), p.2119-2124

2004

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Ethnic Differences in Cardiac Potassium Channel Variants: Implications for Genetic Susceptibility to Sudden Cardiac Death and Genetic Testing for Congenital Long QT Syndrome

Mayo Clinic proceedings, 2003-12, Vol.78 (12), p.1479-1487

2003

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Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

Heart rhythm, 2004-11, Vol.1 (5), p.600-607

2004

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Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome

Circulation (New York, N.Y.), 2015-06, Vol.131 (23), p.2051-2060

2015

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Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

American journal of physiology. Heart and circulatory physiology, 2004-06, Vol.286 (6), p.H2434-H2441

2004

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Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing

Journal of the American College of Cardiology, 2012-10, Vol.60 (15), p.1410-1418

2012

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Repeat long QT syndrome genetic testing of phenotype-positive cases: Prevalence and etiology of detection misses

Heart rhythm, 2012-12, Vol.9 (12), p.1977-1982

2012

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Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome

Heart rhythm, 2004-05, Vol.1 (1), p.60-64

2004

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Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing

Journal of the American College of Cardiology, 2012-10, Vol.60 (15), p.1410-1418

2012

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Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing

Heart rhythm, 2005-10, Vol.2 (10), p.1099-1105

2005

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Comprehensive Analysis of the Beta-Myosin Heavy Chain Gene in 389 Unrelated Patients With Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, 2004-08, Vol.44 (3), p.602-610

2004

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Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective

Journal of the American College of Cardiology, 2002-06, Vol.39 (12), p.2042-2048

2002

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Prevalence and severity of benign mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy

Circulation (New York, N.Y.), 2002-12, Vol.106 (24), p.3085-3090

2002

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Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

Biochemical and biophysical research communications, 2006-12, Vol.351 (4), p.896-902

2006

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Gene-specific modifying effects of pro-LVH polymorphisms involving the renin–angiotensin–aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy

European heart journal, 2005-11, Vol.26 (22), p.2457-2462

2005

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Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young

Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

Long QT syndrome-associated mutations in intrauterine fetal death

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing

Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes

Ethnic Differences in Cardiac Potassium Channel Variants: Implications for Genetic Susceptibility to Sudden Cardiac Death and Genetic Testing for Congenital Long QT Syndrome

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing

Repeat long QT syndrome genetic testing of phenotype-positive cases: Prevalence and etiology of detection misses

Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome

Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing

Comprehensive Analysis of the Beta-Myosin Heavy Chain Gene in 389 Unrelated Patients With Hypertrophic Cardiomyopathy

Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective

Prevalence and severity of benign mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

Gene-specific modifying effects of pro-LVH polymorphisms involving the renin–angiotensin–aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy

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