A5014232652- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- Cardiac Arrhythmias and Treatments
- BRCA gene mutations in cancer
- Ion Transport and Channel Regulation
- Cystic Fibrosis Research Advances
- Receptor Mechanisms and Signaling
- Cardiac pacing and defibrillation studies
- Cardiovascular Effects of Exercise
- Pluripotent Stem Cells Research
- Lipoproteins and Cardiovascular Health
- 14-3-3 protein interactions
- Family and Disability Support Research
- Acute Myocardial Infarction Research
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Child Nutrition and Feeding Issues
- Prenatal Screening and Diagnostics
- Cardiac Fibrosis and Remodeling
- Liver Disease Diagnosis and Treatment
- Pharmaceutical industry and healthcare
- Healthcare Decision-Making and Restraints
- CRISPR and Genetic Engineering
University of Wisconsin–Madison
2015-2025
University Hospital Bonn
2021
University of Wisconsin System
2021
Highland Community College - Illinois
2012
Wisconsin Division of Public Health
2010
Health and Human Development (2HD) Research Network
2009
Care Resource
2009
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College Medical Genetics and Genomics/Association for Molecular Pathology classification framework specific genes diseases. Cardiomyopathy Expert Panel selected MYH7, a key contributor inherited cardiomyopathies, as pilot gene develop broadly applicable approach.MethodsExpert revisions were tested...
Genetic variants in calsequestrin-2 (
<h3>Importance</h3> Calcium-release deficiency syndrome (CRDS), which is caused by loss-of-function variants in cardiac ryanodine receptor 2 (RyR2), an emerging cause of ventricular fibrillation. However, the lack complex polymorphic/bidirectional tachyarrhythmias during exercise stress testing (EST) may distinguish it from catecholaminergic polymorphic tachycardia (CPVT). Recently, first clinical series describing condition, mouse and human studies showed that long-burst, long-pause,...
Objective The purpose of this study, which was part a larger investigation newborn screening (NBS) for cystic fibrosis (CF), to learn how parents were informed about NBS and obtain their suggestions improving the process educating NBS. Method Qualitative study using directed summative content analyses conducted on 100 interviews with 193 newborns recruited from 4 clinical populations including infants (1) CF diagnosis, (2) one mutation therefore carriers, (3) congenital hypothyroidism, (4)...
This study was designed to develop a framework for understanding parents' perspectives about the psychosocial consequences of false-positive newborn screening (NBS) results cystic fibrosis (CF). Through content analysis interviews with 87 parents 44 infants, we found that receipt genetic information through NBS affected on intrapersonal and interpersonal levels within relational family system. Repercussions included wondering test accuracy, child's health, future; gaining new strengthening...
Abstract We sought to delineate the genetic test review and interpretation practices of clinical cardiovascular counselors. A one‐time anonymous online survey was taken by 46 counselors recruited through National Society Genetic Counselors Cardiovascular Special Interest Group. Nearly all (95.7%) gather additional information on variants reported reports most (81.4%) assess classification such variants. Clinical typically (81.0%) classify in collaboration with cardiologist and/or geneticist...
Substantial data support a heritable basis for supraventricular tachycardias, but the genetic determinants and molecular mechanisms of these arrhythmias are poorly understood. We sought to identify loci associated with atrioventricular nodal reentrant tachycardia (AVNRT) accessory pathways or reciprocating (AVAPs/AVRT).
The hERG1 potassium channel conducts the cardiac repolarizing current, IKr. has emerged as a therapeutic target for diseases marked by prolonged actional potential duration (APD). Unfortunately, many activators display off-target and proarrhythmic effects that limit their potential. A Per-Arnt-Sim (PAS) domain in N-terminus reduces IKr slowing activation promoting inactivation. Disrupting PAS activity increases shortens APD human induced pluripotent stem cell-derived cardiomyocytes...
Background: Inherited long QT syndrome type 2 results from variants in the KCNH2 gene encoding human Ether-à-go-go related 1 (hERG1) potassium channel. Two main isoforms, hERG1a and hERG1b, assemble to form tetrameric The N-terminal PAS (Per/Arnt/Sim) domain, present only on subunits, is a hotspot for pathogenic variants, but it unknown whether domain impact hERG1b expression contribute phenotype. We aimed use patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs)...
SCN5A and SNTA1 are reported susceptible genes for long QT syndrome (LQTS). This study was designed to elucidate a plausible pathogenic arrhythmia mechanism the combined novel mutations R800L-SCN5A A261V-SNTA1 on cardiac sodium channels. A Caucasian family with syncope marginally prolonged interval screened LQTS-susceptibility found harbor R800L mutation in A261V SNTA1, those both had strongest clinical phenotype. The were engineered into most common splice variant of human cDNA,...
Objective: To examine effects of newborn screening and neonatal diagnosis on the quality mother-infant interactions in context feeding. Methods: Study compared feeding among 4 groups infants classified by severity diagnostic results: cystic fibrosis (CF), congenital hypothyroidism, heterozygote CF carrier, healthy with normal screening. The Parent-Child Early Relational Assessment a task-oriented item measured for 130 dyads, infant ages 3 to 19 weeks (M = 9.19, SD 3.28). Center Epidemiologic...
KCNJ2 encodes for the potassium inward rectifier channel protein Kir2.1, and mutations in are associated with various inherited arrhythmia syndromes, such as Andersen-Tawil syndrome type 1 (ATS1), short QT 3, familial atrial fibrillation, catecholaminergic polymorphic ventricular tachycardia 3.1–5 ATS1 is an autosomal dominant disease a multisystem phenotype consisting of periodic paralysis, arrhythmias, craniofacial dysmorphic features.6 Ventricular arrhythmias can include frequent ectopy,...
Long-QT syndrome (LQTS) is characterized by QT prolongation and increased risk for syncope, seizures, sudden cardiac death. The majority of LQTS stems from pathogenic mutations in
Atrial fibrillation (AF) is rare in the pediatric population; however, there increasing recognition that AF can be inherited. Long QT syndrome (LQTS), likewise, both acquired and inherited with mutations leading to abnormalities cardiac ion channel function. Mutations KCNQ1 are most common cause of LQTS. Although rare, also familial AF. This report describes a child missense mutation who uniquely expresses concomitant Due potential for increased morbidity mortality, young patients present...
Question Gastrointestinal bleedings (GIB) are frequent in cirrhotic patients and lead to high morbidity mortality. Lately, there have been conflicting reports on the role of bleeding type (variceal [VB] non-variceal [NVB]).