Area of research
Cardiology and Cardiovascular Medicine · Molecular Biology
Research interest
Research interests include Cardiomyopathy and Myosin Studies, Cardiovascular Effects of Exercise, Congenital heart defects research, and Cardiac electrophysiology and arrhythmias.
Cardiac fibroblast BAG3 regulates TGFBR2 signaling and fibrosis in dilated cardiomyopathy
Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies
Damaging variants in FOXI3 cause microtia and craniofacial microsomia
Discordant clinical features of identical hypertrophic cardiomyopathy twins
Contribution of Noncanonical Splice Variants to <i>TTN</i> Truncating Variant Cardiomyopathy
Cells of the adult human heart
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy mutations in <i>MYBPC3</i> dysregulate myosin
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients
<i>THSD1</i>(Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage
5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy
Nationwide Study on Hypertrophic Cardiomyopathy in Iceland
<i>UBQLN2</i> mutation causing heterogeneous X‐linked dominant neurodegeneration
The Congenital Heart Disease Genetic Network Study
<scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss
Truncations of Titin Causing Dilated Cardiomyopathy
Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy