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| Formation of new chromatin domains determines pathogenicity of genomic duplications M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ... Nature 538 (7624), 265-269, 2016 | 702 | 2016 |
| Swarm learning for decentralized and confidential clinical machine learning S Warnat-Herresthal, H Schultze, KL Shastry, S Manamohan, ... Nature 594 (7862), 265-270, 2021 | 654 | 2021 |
| Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ... Nature genetics 48 (9), 1043-1048, 2016 | 614 | 2016 |
| Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome HG Kim, I Kurth, F Lan, I Meliciani, W Wenzel, SH Eom, GB Kang, ... The American Journal of Human Genetics 83 (4), 511-519, 2008 | 387 | 2008 |
| A de novo gain-of-function mutation in SCN11A causes loss of pain perception E Leipold, L Liebmann, GC Korenke, T Heinrich, S Gießelmann, J Baets, ... Nature genetics 45 (11), 1399-1404, 2013 | 330 | 2013 |
| Longitudinal multi-omics analyses identify responses of megakaryocytes, erythroid cells, and plasmablasts as hallmarks of severe COVID-19 JP Bernardes, N Mishra, F Tran, T Bahmer, L Best, JI Blase, D Bordoni, ... Immunity 53 (6), 1296-1314. e9, 2020 | 313 | 2020 |
| The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice F Leviel, CA Hübner, P Houillier, L Morla, S El Moghrabi, G Brideau, ... The Journal of clinical investigation 120 (5), 1627-1635, 2010 | 311 | 2010 |
| Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy I Kurth, T Pamminger, JC Hennings, D Soehendra, AK Huebner, ... Nature genetics 41 (11), 1179-1181, 2009 | 254 | 2009 |
| WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome HG Kim, JW Ahn, I Kurth, R Ullmann, HT Kim, A Kulharya, KS Ha, ... The American Journal of Human Genetics 87 (4), 465-479, 2010 | 242 | 2010 |
| Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19 B Krämer, R Knoll, L Bonaguro, M ToVinh, J Raabe, ... Immunity 54 (11), 2650-2669. e14, 2021 | 188 | 2021 |
| Transcriptional regulator PRDM12 is essential for human pain perception YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ... Nature genetics 47 (7), 803-808, 2015 | 187 | 2015 |
| Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability S Jacobs, E Ruusuvuori, ST Sipilä, A Haapanen, HH Damkier, I Kurth, ... Proceedings of the National Academy of Sciences 105 (1), 311-316, 2008 | 176 | 2008 |
| Mice with a Targeted Disruption of the Cl−/HCO3− Exchanger AE3 Display a Reduced Seizure Threshold M Hentschke, M Wiemann, S Hentschke, I Kurth, I Hermans-Borgmeyer, ... Molecular and Cellular Biology 26 (1), 182-191, 2006 | 140 | 2006 |
| Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 RT Florian, F Kraft, E Leitão, S Kaya, S Klebe, E Magnin, ... Nature communications 10 (1), 4919, 2019 | 139 | 2019 |
| Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia I Kurth, E Klopocki, S Stricker, J van Oosterwijk, S Vanek, J Altmann, ... Nature genetics 41 (8), 862-863, 2009 | 135 | 2009 |
| In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 RE Varga, M Khundadze, M Damme, S Nietzsche, B Hoffmann, T Stauber, ... PLoS genetics 11 (8), e1005454, 2015 | 133 | 2015 |
| Activation of the signal transducer glycoprotein 130 by both IL-6 and IL-11 requires two distinct binding epitopes I Kurth, U Horsten, S Pflanz, H Dahmen, A Küster, J Grötzinger, ... The Journal of Immunology 162 (3), 1480-1487, 1999 | 131 | 1999 |
| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion E Klopocki, S Lohan, SC Doelken, S Stricker, CW Ockeloen, ... Journal of medical genetics 49 (2), 119-125, 2012 | 111 | 2012 |