| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 119 | 2022 |
| The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins A Dreser, JT Vollrath, A Sechi, S Johann, A Roos, A Yamoah, I Katona, ... Cell Death & Differentiation 24 (10), 1655-1671, 2017 | 99 | 2017 |
| Detailed stratified GWAS analysis for severe COVID-19 in four European populations F Degenhardt, D Ellinghaus, S Juzenas, J Lerga-Jaso, M Wendorff, ... Human molecular genetics 31 (23), 3945-3966, 2022 | 62 | 2022 |
| TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 A Schmidt, S Peters, A Knaus, H Sabir, F Hamsen, C Maj, J Fazaal, ... NPJ genomic medicine 6 (1), 55, 2021 | 56 | 2021 |
| Diminazene is a slow pore blocker of acid-sensing ion channel 1a (ASIC1a) A Schmidt, G Rossetti, S Joussen, S Gründer Molecular pharmacology 92 (6), 665-675, 2017 | 53 | 2017 |
| Identification of a cono-RFamide from the venom of Conus textile that targets ASIC3 and enhances muscle pain C Reimers, CH Lee, H Kalbacher, Y Tian, CH Hung, A Schmidt, L Prokop, ... Proceedings of the National Academy of Sciences 114 (17), E3507-E3515, 2017 | 49 | 2017 |
| Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative G Butler-Laporte, G Povysil, JA Kosmicki, ET Cirulli, T Drivas, S Furini, ... PLoS genetics 18 (11), e1010367, 2022 | 41 | 2022 |
| Genomic analyses of hair from Ludwig van Beethoven TJA Begg, A Schmidt, A Kocher, MHD Larmuseau, G Runfeldt, PA Maier, ... Current Biology 33 (8), 1431-1447. e22, 2023 | 38 | 2023 |
| Predicting the pathogenicity of missense variants using features derived from AlphaFold2 A Schmidt, S Röner, K Mai, H Klinkhammer, M Kircher, KU Ludwig Bioinformatics 39 (5), btad280, 2023 | 36 | 2023 |
| Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity C Fallerini, N Picchiotti, M Baldassarri, K Zguro, S Daga, F Fava, E Benetti, ... Human genetics 141 (1), 147-173, 2022 | 34 | 2022 |
| De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies D Fritzen, A Kuechler, M Grimmel, J Becker, S Peters, M Sturm, ... Human genetics 137, 401-411, 2018 | 33 | 2018 |
| A second update on mapping the human genetic architecture of COVID-19 M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ... Nature 621 (7977), E7-E26, 2023 | 32 | 2023 |
| Dual signaling of Wamide myoinhibitory peptides through a peptide-gated channel and a GPCR in Platynereis A Schmidt, P Bauknecht, EA Williams, K Augustinowski, S Gründer, ... bioRxiv, 261990, 2018 | 28 | 2018 |
| The bile acid-sensitive ion channel (BASIC) is activated by alterations of its membrane environment A Schmidt, P Lenzig, A Oslender-Bujotzek, J Kusch, S Dias Lucas, ... PloS one 9 (10), e111549, 2014 | 24 | 2014 |
| Genome-wide association study of long COVID V Lammi, T Nakanishi, SE Jones, SJ Andrews, J Karjalainen, B Cortés, ... medRxiv, 2023.06. 29.23292056, 2023 | 18 | 2023 |
| The conorfamide RPRFa stabilizes the open conformation of acid-sensing ion channel 3 via the nonproton ligand–sensing domain M Reiners, MA Margreiter, A Oslender-Bujotzek, G Rossetti, S Gründer, ... Molecular pharmacology 94 (4), 1114-1124, 2018 | 18 | 2018 |
| Screening of 109 neuropeptides on ASICs reveals no direct agonists and dynorphin A, YFMRFamide and endomorphin-1 as modulators A Vyvers, A Schmidt, D Wiemuth, S Gründer Scientific reports 8 (1), 18000, 2018 | 17 | 2018 |
| Modulation of DEG/ENaCs by amphiphiles suggests sensitivity to membrane alterations A Schmidt, RJ Alsop, R Rimal, P Lenzig, S Joussen, NN Gervasi, ... Biophysical journal 114 (6), 1321-1335, 2018 | 16 | 2018 |
| New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations F Degenhardt, D Ellinghaus, S Juzenas, J Lerga-Jaso, M Wendorff, ... | 13 | 2021 |
| Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin I Cordts, D Önder, A Traschütz, X Kobeleva, I Karin, M Minnerop, ... Movement Disorders 37 (8), 1707-1718, 2022 | 12 | 2022 |
