Ann‐Kathrin Ruppert
University of Cologne(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genetic Associations and Epidemiology, Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32(2012)149 cited
- → Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies(2015)101 cited
- → Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus(2017)93 cited
- → Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study(2018)93 cited
- → A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy(2014)69 cited
- → Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy(2017)41 cited
- → Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation(2019)6 cited
- → No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy(2019)6 cited
- Integrative functional genomic search for regulatory DNA sequence polymorphisms influencing DNA methylation and mRNA expression in hippocampal brain tissue(2015)