Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome

Gene therapy for inherited arrhythmias

(2020) Vassilios J Bezzerides et al.   CARDIOVASCULAR RESEARCH

Impact of age and motor function in a phase 1/2A study of infants with SMA Type 1 receiving single-dose gene replacement therapy

(2019) Linda P. Lowes et al.   PEDIATRIC NEUROLOGY

The genetic architecture of long QT syndrome: A critical reappraisal

(2018) John R. Giudicessi et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Human Induced Pluripotent Stem Cell-Derived Cardiac Cell Sheets Expressing Genetically Encoded Voltage Indicator for Pharmacological and Arrhythmia Studies

(2018) Naim Shaheen et al.   Stem Cell Reports

Contemporary Outcomes in Patients With Long QT Syndrome

(2017) Ram K. Rohatgi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Allele-Specific Quantitative PCR for Accurate, Rapid, and Cost-Effective Genotyping

(2016) Han B. Lee et al.   HUMAN GENE THERAPY

Mechanism and regulation of the nonsense-mediated decay pathway

(2016) Nele Hug et al.   NUCLEIC ACIDS RESEARCH

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: Disease mechanisms and pharmacological rescue

(2014) Miao Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes

(2013) Elena Matsa et al.   EUROPEAN HEART JOURNAL

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

Disease characterization using LQTS-specific induced pluripotent stem cells

(2012) Toru Egashira et al.   CARDIOVASCULAR RESEARCH

Differentiation of Human Embryonic Stem Cells and Induced Pluripotent Stem Cells to Cardiomyocytes

(2012) Christine L. Mummery et al.   CIRCULATION RESEARCH

Mutation-independent rescue of a novel mouse model of Retinitis Pigmentosa

(2012) D L Greenwald et al.   GENE THERAPY

RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties

(2012) Xiaoli Lu et al.   HEART RHYTHM

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Implantable cardioverter defibrillator therapy for congenital long QT syndrome: A single-center experience

(2010) Justin M. Horner et al.   HEART RHYTHM

Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome

(2010) Alessandra Moretti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation

(2009) Saumya Das et al.   HEART RHYTHM

Adeno-Associated Virus Vector Genomes Persist as Episomal Chromatin in Primate Muscle

(2008) M. Penaud-Budloo et al.   JOURNAL OF VIROLOGY

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome

(2008) Zahurul A. Bhuiyan et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY