Axel Schmidt
University of Bonn(DE)University Hospital Bonn(DE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Ion channel regulation and function, Ion Transport and Channel Regulation, SARS-CoV-2 and COVID-19 Research
Most-Cited Works
- → GestaltMatcher facilitates rare disease matching using facial phenotype descriptors(2022)196 cited
- → Detailed stratified GWAS analysis for severe COVID-19 in four European populations(2022)96 cited
- → The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins(2017)95 cited
- → Coronaviruses with Special Emphasis on First Insights Concerning SARS(2005)78 cited
- → Predicting the pathogenicity of missense variants using features derived from AlphaFold2(2023)64 cited
- → Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative(2022)63 cited
- → Diminazene Is a Slow Pore Blocker of Acid-Sensing Ion Channel 1a (ASIC1a)(2017)58 cited
- → TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19(2021)57 cited
- → Identification of a cono-RFamide from the venom of Conus textile that targets ASIC3 and enhances muscle pain(2017)55 cited
- → Dual signaling of Wamide myoinhibitory peptides through a peptide‐gated channel and a GPCR in Platynereis(2018)54 cited