Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.
Guo L et al.
Reviews in Cardiovascular Medicine, 2025
Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.
Aschner A et al.
Frontiers in Neurology, 2024
Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications.
Donato K et al.
European Review for Medical and Pharmacological Sciences, 2023
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
Bora E et al.
Molecular Syndromology, 2023
Recent advances in novel mutation genes of Parkinson's disease.
Yang J et al.
Journal of Neurology, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA et al.
Human Molecular Genetics, 2023
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans.
Giudicessi JR et al.
Circulation. Genomic and Precision Medicine, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Putative role of Brugada syndrome genes in familial atrial fibrillation.
Maltese PE et al.
European Review for Medical and Pharmacological Sciences, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E et al.
Plos One, 2019
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
Germer EL et al.
Frontiers in Neurology, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Candidate susceptibility variants for esophageal squamous cell carcinoma.
Donner I et al.
Genes, Chromosomes & Cancer, 2017
Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.
Ichikawa M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2016
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.
Tšuiko O et al.
Human Reproduction (oxford, England), 2016
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013