Associated Papers
Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families.
Wawszczak-Kasza M et al.
International Journal of Molecular Sciences, 2025
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.
Guo L et al.
Reviews in Cardiovascular Medicine, 2025
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
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.
Gray B et al.
Circulation. Genomic and Precision Medicine, 2022
Genomic classification of benign adrenocortical lesions.
Faillot S et al.
Endocrine-related Cancer, 2021
A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.
Pourebrahim K et al.
The Journal of Cardiovascular Aging, 2021
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
Germer EL et al.
Frontiers in Neurology, 2019
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.
Broendberg AK et al.
European Journal of Human Genetics : Ejhg, 2018
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
Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.
Maltese PE et al.
International Heart Journal, 2017
Ankyrin-2 variants associated with idiopathic ventricular fibrillation storm in patients with intermittent early repolarization pattern.
Krogh Broendberg A et al.
Heartrhythm Case Reports, 2015