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Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

Annals of neurology, 2016-04, Vol.79 (4), p.522-534

2016

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Post-Mortem Review and Genetic Analysis of Sudden Unexpected Death in Epilepsy (SUDEP) Cases

Brain pathology (Zurich, Switzerland), 2011-03, Vol.21 (2), p.201-208

2011

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Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

Journal of molecular and cellular cardiology, 2012-08, Vol.53 (2), p.277-281

2012

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Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Genetics in medicine, 2019-03, Vol.21 (3), p.650-662

2019

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Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

Genetics in medicine, 2014-04, Vol.16 (4), p.286-293

2014

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A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

Heart rhythm, 2016-08, Vol.13 (8), p.1652-1660

2016

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Genetic Analysis of Hyperpolarization-Activated Cyclic Nucleotide-Gated Cation Channels in Sudden Unexpected Death in Epilepsy Cases

Brain pathology (Zurich, Switzerland), 2011-11, Vol.21 (6), p.692-698

2011

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Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy

Stem cell research, 2017-04, Vol.20 (C), p.76-79

2017

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Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing

Circulation. Cardiovascular genetics, 2017-08, Vol.10 (4)

2017

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Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, 2018-07, Vol.72 (4), p.419-429

2018

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Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications

Circulation. Cardiovascular genetics, 2017-04, Vol.10 (2)

2017

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Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A Genome-Wide Analysis

Journal of the American College of Cardiology, 2010-03, Vol.55 (11), p.1127-1135

2010

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Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Circulation. Genomic and precision medicine, 2019-01, Vol.12 (1), p.e002368-e002368

2019

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Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.512-520

2023

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Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing

Physiological genomics, 2015-03, Vol.47 (3), p.75-87

2015

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Some Vocal Consequences of Sleep Deprivation and the Possibility of “Fatigue Proofing” the Voice With Voicecraft® Voice Training

Journal of voice, 2011-07, Vol.25 (4), p.447-461

2011

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Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

Neurology, 2014-09, Vol.83 (11), p.1018

2014

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No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort

European journal of heart failure, 2013-07, Vol.15 (7), p.730-733

2013

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Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy

Circulation. Cardiovascular genetics, 2017-06, Vol.10 (3)

2017

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Efficacy and economic assessment of conventional ventilatory support versus extracorporeal membrane oxygenation for severe adult respiratory failure (CESAR): a multicentre randomised controlled trial

The Lancet (British edition), 2009-10, Vol.374 (9698), p.1351-1363

2009

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NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy

Journal of cardiovascular electrophysiology, 2015-12, Vol.26 (12), p.1346-1351

2015

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Health care providers' attitudes and beliefs about functional impairments and chronic back pain

The Clinical journal of pain, 1995-12, Vol.11 (4), p.287-295

1995

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The Impact of Specific Exertion on the Efficiency and Ease of the Voice: A Pilot Study

Journal of voice, 2005-09, Vol.19 (3), p.384-390

2005

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Loss-of-function variants in K v 11.1 cardiac channels as a biomarker for SUDEP

Annals of clinical and translational neurology, 2021-07, Vol.8 (7), p.1422-1432

2021

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Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population

Circulation. Genomic and precision medicine, 2020-04, Vol.13 (2), p.e002731-e002731

2020

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Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

Post-Mortem Review and Genetic Analysis of Sudden Unexpected Death in Epilepsy (SUDEP) Cases

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

Genetic Analysis of Hyperpolarization-Activated Cyclic Nucleotide-Gated Cation Channels in Sudden Unexpected Death in Epilepsy Cases

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A Genome-Wide Analysis

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing

Some Vocal Consequences of Sleep Deprivation and the Possibility of “Fatigue Proofing” the Voice With Voicecraft® Voice Training

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy

Efficacy and economic assessment of conventional ventilatory support versus extracorporeal membrane oxygenation for severe adult respiratory failure (CESAR): a multicentre randomised controlled trial

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy

Health care providers' attitudes and beliefs about functional impairments and chronic back pain

The Impact of Specific Exertion on the Efficiency and Ease of the Voice: A Pilot Study

Loss-of-function variants in K v 11.1 cardiac channels as a biomarker for SUDEP

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population

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