A5017629892- Genomics and Rare Diseases
- Cardiac electrophysiology and arrhythmias
- Genetic factors in colorectal cancer
- Cardiac pacing and defibrillation studies
- RNA Research and Splicing
- Endoplasmic Reticulum Stress and Disease
- Cardiac Valve Diseases and Treatments
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Cardiomyopathy and Myosin Studies
- ATP Synthase and ATPases Research
- Cardiac Arrhythmias and Treatments
- Mitochondrial Function and Pathology
Royal Brompton & Harefield NHS Foundation Trust
2017-2021
British Columbia Children's Hospital
2021
Royal Brompton Hospital
2017
Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic require disease-specific refinement. Here we developed CardioClassifier ( http://www.cardioclassifier.org ), a semiautomated decision-support tool for inherited cardiac conditions (ICCs).CardioClassifier integrates data retrieved multiple sources with user-input case-specific information, through an interactive interface, to support interpretation. Combining...
PurposeBiallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants.MethodsSynthesis of clinical and molecular data concerning 34 five previously reported 12 novel variants, 11 which were functionally characterized.ResultsAmong individuals, only 6 remain...
ABSTRACT Purpose Internationally-adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic require disease-specific refinement. Here we developed CardioClassifier ( www.cardioclassifier.org ), a semi-automated decision-support tool for inherited cardiac conditions (ICCs). Methods integrates data retrieved multiple sources with user-input case-specific information, through an interactive interface, to support varian interpretation....