Gomez Ramos, B., Ohnmacht, J., de Lange, N., VALCESCHINI, E., GINOLHAC, A., CATILLON, M., FERRANTE, D., Rakovic, A., HALDER, R., Massart, F., ARENA, G., ANTONY, P., BOLOGNIN, S., Klein, C., KRAUSE, R., Schulz, M. H., SAUTER, T., Krüger, R., & SINKKONEN, L. (2023). Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation. EMBO Reports. doi:10.1038/s44319-023-00024-2 Peer Reviewed verified by ORBi |
Boothman, I., Clayton, L. M., McCormack, M., Driscoll, A. M., Stevelink, R., Moloney, P., KRAUSE, R., Kunz, W. S., Peter, S., O'Brien, T. J., Sills, G. J., de Haan, G.-J., Zara, F., Koeleman, B. P., Depondt, C., Marson, A. G., Stefansson, H., Stefansson, K., Craig, J., ... Cavalleri, G. L. (08 September 2023). Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin. Frontiers in Neuroscience, 17, 1156362. doi:10.3389/fnins.2023.1156362 Peer Reviewed verified by ORBi |
Stevelink, R., Campbell, C., Chen, S., Abou-Khalil, B., Adesoji, O. M., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D. M., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M. D., Balagura, G., Balestrini, S., Barba, C., Barboza, K., ... Epilepsies, I. L. A. E. C. O. C. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics. doi:10.1038/s41588-023-01485-w Peer Reviewed verified by ORBi |
Montanucci, L., Lewis-Smith, D., Collins, R. L., Niestroj, L.-M., Parthasarathy, S., Xian, J., Ganesan, S., Macnee, M., Brünger, T., Thomas, R. H., Talkowski, M., Krause, R., May, P., Helbig, I., Leu, C., & Lal, D. (20 July 2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14 (1), 4392. doi:10.1038/s41467-023-39539-6 Peer Reviewed verified by ORBi |
Campbell, C., Lewis-Smith, D., Leu, C., Martins, H., Wolking, S., KRAUSE, R., O’Brien, T., Sill, G., Zara, F., Koeleman, B., Depondt, C., Marson, A., Stefánnson, H., Stefánnson, K., Craig, J., Johnson, M., Striano, P., Jorgensen, A., Lerche, H., ... Cavalleri, G. L. (2023). Polygenic risk score analysis reveals shared genetic burden between epilepsy and psychiatric comorbidities. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/57188. doi:10.1101/2023.07.04.23292071 |
Bundalian, L., Su, Y.-Y., Chen, S., Velluva, A., Kirstein, A. S., Garten, A., Biskup, S., Battke, F., Lal, D., Heyne, H. O., Platzer, K., Lin, C.-C., Lemke, J. R., Duc, D. L., Krause, R., May, P., & Consortium, E. (2023). Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population. American Journal of Human Genetics. doi:10.1016/j.ajhg.2023.06.004 Peer Reviewed verified by ORBi |
Stevelink, R., Al-Toma, D., Jansen, F. E., Lamberink, H. J., Asadi-Pooya, A. A., Farazdaghi, M., Cação, G., Jayalakshmi, S., Patil, A., Özkara, Ç., Aydın, Ş., Gesche, J., Beier, C. P., Stephen, L. J., Brodie, M. J., Unnithan, G., Radhakrishnan, A., Höfler, J., Trinka, E., ... Braun, K. P. J. (2022). Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis. EClinicalMedicine, 101732. doi:10.1016/j.eclinm.2022.101732 Peer Reviewed verified by ORBi |
Krüger, J., Schubert, J., Kegele, J., Labalme, A., Mao, M., Heighway, J., Seebohm, G., Yan, P., Koko, M., Aslan-Kara, K., Caglayan, H., Steinhoff, B. J., Weber, Y. G., Keo-Kosal, P., Berkovic, S. F., Hildebrand, M. S., Petrou, S., Krause, R., May, P., ... Lerche, H. (08 September 2022). Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. EBioMedicine, 84, 104244. doi:10.1016/j.ebiom.2022.104244 Peer Reviewed verified by ORBi |
Adesoji, O. M., Schulz, H., May, P., Krause, R., Lerche, H., Nothnagel, M., & Epilepsies, I. C. O. C. (September 2022). Benchmarking of univariate pleiotropy detection methods applied to epilepsy. Human Mutation, 43 (9), 1314-1332. doi:10.1002/humu.24417 Peer Reviewed verified by ORBi |
Campbell, C., Leu, C., Feng, Y.-C. A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., Benson, K., Molloy, A., Brody, L., Michaud, J. L., Hamdan, F. F., Minassian, B. A., Lerche, H., Scheffer, I. E., Sisodiya, S., ... Krause, R. (July 2022). The role of common genetic variation in presumed monogenic epilepsies. EBioMedicine, 81, 104098. doi:10.1016/j.ebiom.2022.104098 Peer Reviewed verified by ORBi |
International League Against Epilepsy Consortium on Complex Epilepsies Krause, R., Landoulsi, Z., May, P., Krause, R., Berkovic, S. F., Cavalleri, G. L., & Koeleman, B. P. (2022). Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/51794. doi:10.1101/2022.06.08.22276120 |
Celli, R., Striano, P., Citraro, R., Di Menna, L., Cannella, M., Imbriglio, T., Koko, M., Consortium, E.-C., May, P., Krause, R., De Sarro, G., Monn, J. A., Battaglia, G., van Luitjelaar, G., Nicoletti, F., Russo, E., & Leo, A. (2022). mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data. Current Neuropharmacology. doi:10.2174/1570159X20666220509160511 Peer Reviewed verified by ORBi |
Campbell, C., McCormack, M., Patel, S., Stapleton, C., Bobbili, D. R., Krause, R., Depondt, C., Sills, G. J., Koeleman, B. P., Striano, P., Zara, F., Sander, J. W., Lerche, H., Kunz, W. S., Stefansson, K., Stefansson, H., Doherty, C. P., Heinzen, E. L., Scheffer, I. E., ... Cavalleri, G. L. (2022). A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. Epilepsia, 63 (6), 1563-1570. doi:10.1111/epi.17228 Peer Reviewed verified by ORBi |
Czarnewski, P., Mahfouz, A., Calogero, R. A., Palagi, P. M., Portell-Silva, L., Gonzalez-Uriarte, A., Soneson, C., Burdett, T., Szomolay, B., Videm, P., Hotz, H. R., Papatheodorou, I., Hancock, J. M., Gruening, B., Haerty, W., Krause, R., Capella-Gutierrez, S., Lesko?ek, B., Alessandri, L., ... Korpelainen, E. (2022). Community-driven ELIXIR activities in single-cell omics [version 1; peer review: awaiting peer review]. F1000Research, 11 (869). doi:10.12688/f1000research.122312.1 |
Koko, M., Krause, R., Sander, T., Bobbili, D. R., Nothnagel, M., May, P., Lerche, H., & Epi25 Collaborative. (24 September 2021). Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine, 72, 103588. doi:10.1016/j.ebiom.2021.103588 Peer Reviewed verified by ORBi |
Wolking, S., Campbell, C., Stapleton, C., McCormack, M., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Krause, R., Kunz, W. S., Marson, A. G., Sander, J. W., Sills, G. J., Striano, P., Zara, F., Sisodiya, S. M., Cavalleri, G. L., Lerche, H., & Epipgx Consortium. (09 June 2021). Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications. Frontiers in Pharmacology, 12, 1291. doi:10.3389/fphar.2021.688386 Peer Reviewed verified by ORBi |
Wolking, S., Moreau, C., McCormack, M., Krause, R., Krenn, M., Consortium, E., Berkovic, S., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O’Brien, T. J., Petrovski, S., Sander, J. W., Sills, G. J., ... Cossette, P. (21 May 2021). Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. Annals of Clinical and Translational Neurology, n/a (n/a). doi:10.1002/acn3.51374 Peer reviewed |
Stevelink, R., Luykx, J. J., Lin, B. D., Leu, C., Lal, D., Smith, A. W., Schijven, D., Carpay, J. A., Rademaker, K., Rodrigues Baldez, R. A., Devinsky, O., Braun, K. P. J., Jansen, F. E., Smit, D. J. A., Koeleman, B. P. C., International League Against Epilepsy Consortium On ComplexEpilepsies, Epi25 Collaborative, May, P., & Krause, R. (18 May 2021). Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations. Epilepsia, 62 (7), 1518-1527. doi:10.1111/epi.16922 Peer reviewed |
Lewis-Smith, D., Galer, P. D., Balagura, G., Kearney, H., Ganesan, S., Cosico, M., O'Brien, M., Vaidiswaran, P., Krause, R., Ellis, C. A., Thomas, R. H., Robinson, P. N., & Helbig, I. (05 May 2021). Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable. Epilepsia, n/a (n/a). doi:10.1111/epi.16908 Peer reviewed |
Motelow, J. E., Povysil, G., Dhindsa, R. S., Stanley, K. E., Allen, A. S., Feng, Y.-C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Cusick, C., Singh, T., Heyne, H., Byrnes, A. E., Churchhouse, C., Watts, N., Solomonson, M., Lal, D., Gupta, N., ... Goldstein, D. B. (2021). Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. The American Journal of Human Genetics. doi:10.1016/j.ajhg.2021.04.009 Peer reviewed |
Krueger, J., Schubert, J., Kegele, J., Labalme, A., Mao, M., Heighway, J., Seebohm, G., Yan, P., Koko, M., Aslan, K., Caglayan, H., Steinhoff, B. J., Weber, Y. G., Keo-Kosal, P., Berkovic, S. F., Hildebrand, M. S., Petrou, S., Krause, R., May, P., ... Lerche, H. (2021). Loss of function variants in the KCNQ5 gene are associated with genetic generalized epilepsies. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/46849. doi:10.1101/2021.04.20.21255696 |
Koko, M., Krause, R., Sander, T., Bobbili, D. R., Nothnagel, M., May, P., Lerche, H., & ???. (2021). Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets 2021.04.18.440264. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/46851. doi:10.1101/2021.04.18.440264 |
Gulcebi, M. I., Bartolini, E., Lee, O., Lisgaras, C. P., Onat, F., Mifsud, J., Striano, P., Vezzani, A., Hildebrand, M. S., Jimenez-Jimenez, D., Junck, L., Lewis-Smith, D., Scheffer, I. E., Thijs, R. D., Zuberi, S. M., Blenkinsop, S., Fowler, H. J., Foley, A., Balestrini, S., ... Sisodiya, S. M. (2021). Climate change and epilepsy: Insights from clinical and basic science studies. Epilepsy and Behavior, 116, 107791. doi:10.1016/j.yebeh.2021.107791 Peer reviewed |
Crawford, K., Xian, J., Helbig, K. L., Galer, P. D., Parthasarathy, S., Lewis-Smith, D., Kaufman, M. C., Fitch, E., Ganesan, S., O'Brien, M., Codoni, V., Ellis, C. A., Conway, L. J., Taylor, D., Krause, R., & Helbig, I. (2021). Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders. Genetics in medicine : official journal of the American College of Medical Genetics, 23 (7), 1263-1272. doi:10.1038/s41436-021-01120-1 Peer reviewed |
Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., EPI25 Collaborative, Krause, R., Johannesen, K. M., Lauxmann, S., Lemke, J. R., Møller, R. S., Pérez-Palma, E., Scholl, U. I., Syrbe, S., Lerche, H., Lal, D., Campbell, A. J., Wang, H.-R., ... Daly, M. J. (12 August 2020). Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science Translational Medicine, 12 (556), 6848. doi:10.1126/scitranslmed.aay6848 Peer Reviewed verified by ORBi |
Gurwitz, K. T., Singh Gaur, P., Bellis, L. J., Larcombe, L., Alloza, E., Balint, B. L., Botzki, A., Dimec, J., Dominguez Del Angel, V., Fernandes, P. L., Korpelainen, E., Krause, R., Kuzak, M., Le Pera, L., Leskošek, B., Lindvall, J. M., Marek, D., Martinez, P. A., Muyldermans, T., ... Rustici, G. (23 July 2020). A framework to assess the quality and impact of bioinformatics training across ELIXIR. PLoS Computational Biology, 16 (7), 1007976. doi:10.1371/journal.pcbi.1007976 Peer Reviewed verified by ORBi |
Wolking, S., Schulz, H., Nies, A. T., McCormack, M., Schaeffeler, E., Auce, P., Avbersek, A., Becker, F., Klein, K. M., Krenn, M., Møller, R. S., Nikanorova, M., Weckhuysen, S., Consortium, E., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., ... Lerche, H. (20 April 2020). Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics, 0 (0). doi:10.2217/pgs-2019-0179 Peer Reviewed verified by ORBi |
Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Møller, R. S., Krause, R., Nürnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., EuroEPINOMICS-RES Consortium, Ware, J. S., Kurki, M., Gormley, P., ... Daly, M. J. (17 March 2020). Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Medicine, 12 (28). doi:10.1186/s13073-020-00725-6 Peer Reviewed verified by ORBi |
Wolking, S., Moreau, C., Nies, A. T., Schaeffeler, E., McCormack, M., Auce, P., Avbersek, A., Becker, F., Krenn, M., Møller, R. S., Nikanorova, M., Weber, Y. G., Weckhuysen, S., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., ... EpiPGX Consortium. (2020). Testing association of rare genetic variants with resistance to three common antiseizure medications. Epilepsia, 61 (n/a), 657-666. doi:10.1111/epi.16467 Peer reviewed |
Galer, P. D., Ganesan, S., Lewis-Smith, D., McKeown, S. E., Pendziwiat, M., Helbig, K. L., Ellis, C. A., Rademacher, A., Smith, L., Poduri, A., Seiffert, S., Spiczak, S. V., Muhle, H., Baalen, A. V., Thomas, R. H., Krause, R., Weber, Y., & Helbig, I. (2020). Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. The American Journal of Human Genetics, 107 (4), 683 - 697. doi:10.1016/j.ajhg.2020.08.003 Peer reviewed |
Garcia, L., Batut, B., Burke, M. L., Kuzak, M., Psomopoulos, F., Arcila, R., Attwood, T. K., Beard, N., Carvalho-Silva, D., Dimopoulos, A. C., Del Angel, V. D., Dumontier, M., Gurwitz, K. T., Krause, R., McQuilton, P., Le Pera, L., Morgan, S. L., Rauste, P., Via, A., ... Palagi, P. M. (2020). Ten simple rules for making training materials FAIR. PLoS Computational Biology, 16 (5), 1007854. doi:10.1371/journal.pcbi.1007854 Peer Reviewed verified by ORBi |
Köhler, S., Gargano, M., Matentzoglu, N., Carmody, L. C., Lewis-Smith, D., Vasilevsky, N. A., Danis, D., Balagura, G., Baynam, G., Brower, A. M., Callahan, T. J., Chute, C. G., Est, J. L., Galer, P. D., Ganesan, S., Griese, M., Haimel, M., Pazmandi, J., Hanauer, M., ... Robinson, P. N. (2020). The Human Phenotype Ontology in 2021. Nucleic Acids Research. doi:10.1093/nar/gkaa1043 Peer Reviewed verified by ORBi |
Tanevski, J., Nguyen, T., Truong, B., Karaiskos, N., Eren, M., Zhang, X., Shu, C., Hu, Y., Pham, H. V. V., Li, X., Le, T., Tarca, A., Bhatti, G., Romero, R., Karathanasis, N., Loher, P., Chen, Y., Ouyang, Z., Mao, D., ... Saez-Rodriguez, J. (2020). Gene selection for optimal prediction of cell position in tissues from single-cell transcriptomics. Life Science Alliance, 3 (11), 202000867. doi:10.26508/LSA.202000867 Peer Reviewed verified by ORBi |
Feng, Y.-C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Singh, T., Heyne, H., Byrnes, A., Churchhouse, C., Watts, N., Solomonson, M., Lal, D., Heinzen, E. L., Dhindsa, R. S., Stanley, K. E., Cavalleri, G. L., Hakonarson, H., Helbig, I., Krause, R., ... Neale, B. M. (2019). Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. American Journal of Human Genetics. doi:10.1016/j.ajhg.2019.05.020 Peer Reviewed verified by ORBi |
Helbig, I., Lopez-Hernandez, T., Shor, O., Galer, P., Ganesan, S., Pendziwiat, M., Rademacher, A., Ellis, C. A., Humpfer, N., Schwarz, N., Seiffert, S., Peeden, J., Shen, J., Sterbova, K., Hammer, T. B., Moller, R. S., Shinde, D. N., Tang, S., Smith, L., ... GRIN consortium. (2019). A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. American Journal of Human Genetics. doi:10.1016/j.ajhg.2019.04.001 Peer Reviewed verified by ORBi |
Lerche, H., Berkovic, S. F., Lowenstein, D. H., EuroEPINOMICS-CoGIE, May, P., Bobbili, D. R., Krause, R., Balling, R., EpiPGX consortium, Peter, S., & Epi4K Consortium/Epilepsy Phenome/Genome. (18 April 2019). Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy [letter to the editor]. New England Journal of Medicine, 380 (16), 24. doi:10.1056/NEJMc1805100 Peer Reviewed verified by ORBi |
Berghuis, B., Stapleton, C., Sonsma, A., Hulst, J., de Haan, G., Lindhout, D., Demurtas, R., Balling, R., Schneider, R., EpiPGX Consortium, & Krause, R. (2019). A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. Epilepsia Open. doi:10.1002/epi4.12297 Peer reviewed |
Silvennoinen, K., de Lange, N. M., Zagaglia, S., Balestrini, S., Androsova, G., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., Cavalleri, G. L., Craig, J., Delanty, N., Johnson, M. R., Koeleman, B. P. C., ... Consortium, T. E. (2019). Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open, 0 (0). doi:10.1002/epi4.12349 Peer reviewed |
Heavin, S. B., McCormack, M., Wolking, S., Slattery, L., Walley, N., Avbersek, A., Novy, J., Sinha, S. R., Radtke, R., Doherty, C., Auce, P., Craig, J., Johnson, M. R., Koeleman, B. P. C., Krause, R., Kunz, W. S., Marson, A. G., O'Brien, T. J., Sander, J. W., ... Delanty, N. (2019). Genomic and clinical predictors of lacosamide response in refractory epilepsies. Epilepsia Open, 0 (0). doi:10.1002/epi4.12360 Peer Reviewed verified by ORBi |
The International League Against Epilepsy Consortium on Complex Epilepsies, & Krause, R. (2018). Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nature Communications. doi:10.1038/s41467-018-07524-z Peer Reviewed verified by ORBi |
Jabbari, K., Bobbili, D. R., Lal, D., Reinthaler, E. M., Schubert, J., Wolking, S., Sinha, V., Motameny, S., Thiele, H., Kawalla, A., Altmüller, J., Toliat, M. R., Kraaij, R., van Rooij, J., Uitterlinden, A. G., Ikram, M. A., EuroEPINOMICS CoGIE Consortium, Balling, R., Zara, F., ... Nürnberg, P. (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS ONE. doi:10.1371/journal.pone.0202022 Peer Reviewed verified by ORBi |
May, P., Girard, S., Harrer, M., Bobbili, D. R., Schubert, J., Wolking, S., Becker, F., Lachance-Touchette, P., Meloche, C., Gravel, M., Niturad, C. E., Knaus, J., De Kovel, C., Toliat, M., Polvi, A., Iacomino, M., Guerrero-López, R., Baulac, S., Marini, C., ... Lerche, H. (18 August 2018). Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. The Lancet Neurology, 17 (8), 699-708. doi:10.1016/S1474-4422(18)30215-1 Peer Reviewed verified by ORBi |
Bobbili, D. R.* , Lal, D.* , May, P.* , Reinthaler, E. M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., EuroEPINOMICS COGIE Consortium, Balling, R., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., & Neubauer, B. A. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy. European Journal of Human Genetics. doi:10.1038/s41431-017-0034-x Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
Winterer, G., Androsova, G., Bender, O., Boraschi, D., Borchers, F., Dschietzig, T. B., Feinkohl, I., Fletcher, P., Gallinat, J., Hadzidiakos, D., Haynes, J. D., Heppner, F., Hetzer, S., Hendrikse, J., Ittermann, B., Kant, I. M. J., Kraft, A., Krannich, A., Krause, R., ... Zacharias, N. (2018). Personalized risk prediction of postoperative cognitive impairment - rationale for the EU-funded BioCog project. European Psychiatry, 50, 34-39. doi:10.1016/j.eurpsy.2017.10.004 Peer Reviewed verified by ORBi |
McCormack, M., Gui, H., Ingason, A., Speed, D., Wright, G. E. B., Zhang, E. J., Secolin, R., Yasuda, C., Kwok, M., Wolking, S., Becker, F., Rau, S., Avbersek, A., Heggeli, K., Leu, C., Depondt, C., Sills, G. J., Marson, A. G., Auce, P., ... Cavalleri, G. L. (2017). Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients. Neurology. doi:10.1212/WNL.0000000000004853 Peer Reviewed verified by ORBi |
Niturad, E. C., Lev, D., Kalscheuer, V. M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H. Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., ... Leshinsky-Silver, E. (01 November 2017). Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain: a Journal of Neurology, 140 (11), 2879-2894. doi:10.1093/brain/awx236 Peer Reviewed verified by ORBi |
Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., EuroEPINOMICS CoGIE Consortium, May, P., Krause, R., Balling, R., Genetic Commission of Italian League Against Epilepsy (LICE), Moyanova, S., Ngomba, R. T., van Luijtellar, G., Battaglia, G., ... Nicoletti, F. (2017). Alterations in the α2δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies. Epilepsia. doi:10.1111/epi.13898 Peer Reviewed verified by ORBi |
Androsova, G.* , Krause, R.* , Borghei, M., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., Cavalleri, G. L., Craig, J., Delanty, N., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., ... the EpiPGX Consortium. (2017). Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsia, 1-8. doi:10.1111/epi.13871 Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
Keck, M., Androsova, G., Gualtieri, F., Walker, A., von Ruden, E.-L., Russmann, V., Deeg, C. A., Hauck, S. M., Krause, R., & Potschka, H. (30 May 2017). A systems level analysis of epileptogenesis-associated proteome alterations. Neurobiology of Disease, 105, 164-178. doi:10.1016/j.nbd.2017.05.017 Peer Reviewed verified by ORBi |
Allen, A. S., Berkovic, S. F., Bridgers, J., Cossette, P., Dlugos, D., Epstein, M. P., Glauser, T., Goldstein, D. B., Heinzen, E. L., Jiang, Y., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., ... Winawer, M. R. (2017). Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. European Journal of Human Genetics. doi:10.1038/ejhg.2017.61 Peer Reviewed verified by ORBi |
Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., Jonghe, P. D., Depienne, C., Dimova, P., Djémié, T., Gormley, P., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., ... Sherr, E. (05 January 2017). De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. American Journal of Human Genetics, 100 (1), 179. doi:10.1016/j.ajhg.2016.12.012 Peer Reviewed verified by ORBi |
Lal, D., Reinthaler, E., Dejanovic, May, P., Thiele, H., Lehesjoki, A.-E., Schwarz, G., Riesch, E., Ikram, A., van Duijn, C., Uitterlinden, A., Steinböck, H., Gruber-Sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Balling, R., ... Neubauer, B. (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS ONE. doi:10.1371/journal.pone.0150426 Peer Reviewed verified by ORBi |
Yamamoto, H., Wittek, D., Gupta, R., Qin, B., Ueda, T., Krause, R., Yamamoto, K., Albrecht, R., Pech, M., & Nierhaus, K. H. (2016). 70S-scanning initiation is a novel and frequent initiation mode of ribosomal translation in bacteria. Proceedings of the National Academy of Sciences of the United States of America, 113 (9), 1180-9. doi:10.1073/pnas.1524554113 Peer Reviewed verified by ORBi |
Köhler, S., Vasilevsky, N. A., Engelstad, M., Foster, E., McMurry, J., Aymé, S., Baynam, G., Bello, S. M., Boerkoel, C. F., Boycott, K. M., Brudno, M., Buske, O. J., Chinnery, P. F., Cipriani, V., Connell, L. E., Dawkins, H. J. S., DeMare, L. E., Devereau, A. D., de Vries, B. B. A., ... Robinson, P. N. (2016). The Human Phenotype Ontology in 2017. Nucleic Acids Research. doi:10.1093/nar/gkw1039 Peer reviewed |
Allen, G., Amoroso, N., Anghel, C., Balagurusamy, V., Bare, C., Beaton, D., Bellotti, R., Bennett, D., Boehme, K., Caberlotto, L., Campbell, F., Chang, Y.-C., Chen, B., Chen, C.-Y., Chien, T.-Y., Clark, T., Das, S., Davatzikos, C., Deng, J., ... Alzheimer's Disease Neuroimaging Initiative. (2016). Crowdsourced estimation of cognitive decline and resilience in Alzheimer's disease. Alzheimer's and Dementia: the Journal of the Alzheimer's Association, 12 (6), 645-653. doi:10.1016/j.jalz.2016.02.006 Peer reviewed |
Syrbe, S., Hedrich, U. B. S., Riesch, E., Djémié, T., Müller, S., Møller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H. S., Arslan, M., Serratosa, J. M., Nothnagel, M., May, P., Krause, R., Löffler, H., Detert, K., Dorn, T., Vogt, H., ... Lemke, J. R. (09 March 2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature Genetics, 47 (4), 393-9. doi:10.1038/ng.3239 Peer Reviewed verified by ORBi |
Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., Scheffer, I. E., Paalotie, A., Lehesjoki, A.-E., Koeleman, B., Marini, C., Depienne, C., Pal, D., Hoffman-Zacharska, D., Leguern, E., ... Weber, Y. (03 March 2015). CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology, 84 (9), 951-958. doi:10.1212/WNL.0000000000001305 Peer Reviewed verified by ORBi |
Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., Kirkpatrick, M., Goudie, D., Goldman, R., Jähn, J. A., Jepsen, B., Gill, D., Döcker, M., Biskup, S., McMahon, J. M., ... EuroEPINOMICS RES Consortium CRP. (03 February 2015). The phenotypic spectrum of SCN8A encephalopathy. Neurology, 84 (5), 480-489. doi:10.1212/WNL.0000000000001211 Peer Reviewed verified by ORBi |
Lal, D., Steinbrucker, S., Schubert, J., Sander, T., Becker, F., Weber, Y., Lerche, H., Thiele, H., Krause, R., Lehesjoki, A.-E., Nurnberg, P., Palotie, A., Neubauer, B. A., Muhle, H., Stephani, U., Helbig, I., Becker, A. J., Schoch, S., Hansen, J., ... Lemke, J. R. (2015). Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Research, 115, 95-9. doi:10.1016/j.eplepsyres.2015.05.010 Peer Reviewed verified by ORBi |
Androsova, G., Krause, R., Winterer, G., & Schneider, R. (2015). Biomarkers of postoperative delirium and cognitive dysfunction. Frontiers in Aging Neuroscience, 7 (112). doi:10.3389/fnagi.2015.00112 Peer Reviewed verified by ORBi |
Galizia, E. C., Myers, C. T., Leu, C., de Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T., Jacmin, M., Drury, S., Krishna Chinthapalli, V., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A.-K., Møller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A.-E., ... Sisodiya, S. M. (2015). CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain: a Journal of Neurology. doi:10.1093/brain/awv052 Peer reviewed |
Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., Kawalia, A., Toliat, M. R., Sander, T., Ruschendorf, F., Caliebe, A., Nagel, I., Kohl, B., ... Lerche, H. (02 November 2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature Genetics, 46 (12), 1327-32. doi:10.1038/ng.3130 Peer Reviewed verified by ORBi |
Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djemie, T., Gormly, P., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, Klein, K. M., Koeleman, B., Komarek, V., ... Epi4K Consortium. (25 September 2014). De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. American Journal of Human Genetics, 4, 360-370. doi:10.1016/j.ajhg.2014.08.013 Peer Reviewed verified by ORBi |
Nava, C., Dalle, C., Rastetter, A., Striano, P., de Kovel, C. G. F., Nabbout, R., Cancès, C., Ville, D., Brilstra, E. H., Gobbi, G., Raffo, E., Bouteiller, D., Marie, Y., Trouillard, O., Robbiano, A., Keren, B., Agher, D., Roze, E., Lesage, S., ... Zara, F. (Other coll.). (2014). De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nature Genetics. doi:10.1038/ng.2952 Peer reviewed |
Chang, W.-C., Vakati, S., Krause, R., & Eulenstein, O. (2012). Exploring biological interaction networks with tailored weighted quasi-bicliques. BMC Bioinformatics, 13 Suppl 10, 16. doi:10.1186/1471-2105-13-S10-S16 Peer Reviewed verified by ORBi |
Hafemeister, C., Krause, R., & Schliep, A. (2011). Selecting oligonucleotide probes for whole-genome tiling arrays with a cross-hybridization potential. IEEE/ACM Transactions on Computational Biology and Bioinformatics, 8 (6), 1642-52. doi:10.1109/TCBB.2011.39 Peer Reviewed verified by ORBi |
Wiedenhoeft, J., Krause, R., & Eulenstein, O. (2011). The plexus model for the inference of ancestral multidomain proteins. IEEE/ACM Transactions on Computational Biology and Bioinformatics, 8 (4), 890-901. doi:10.1109/TCBB.2011.22 Peer Reviewed verified by ORBi |
Homilius, M., Wiedenhoeft, J., Thieme, S., Standfuss, C., Kel, I., & Krause, R. (2011). Cocos: Constructing multi-domain protein phylogenies. PLOS Currents, 3, 1240. doi:10.1371/currents.RRN1240 Peer Reviewed verified by ORBi |
Lister, A. L., Datta, R. S., Hofmann, O., Krause, R., Kuhn, M., Roth, B., & Schneider, R. (2010). Live Coverage of Scientific Conferences Using Web Technologies. PLoS Computational Biology, 6 (1), 1-2. doi:10.1371/journal.pcbi.1000563 Peer Reviewed verified by ORBi |
Lister, A. L., Datta, R. S., Hofmann, O., Krause, R., Kuhn, M., Roth, B., & Schneider, R. (2010). Live Coverage of Intelligent Systems for Molecular Biology. PLoS Computational Biology, 6. doi:10.1371/journal.pcbi.1000640 Peer Reviewed verified by ORBi |
Lee, J. S., Krause, R., Schreiber, J., Mollenkopf, H.-J., Kowall, J., Stein, R., Jeon, B.-Y., Kwak, J.-Y., Song, M.-K., Patron, J. P., Jorg, S., Roh, K., Cho, S.-N., & Kaufmann, S. H. E. (2008). Mutation in the transcriptional regulator PhoP contributes to avirulence of Mycobacterium tuberculosis H37Ra strain. Cell Host and Microbe, 3 (2), 97-103. doi:10.1016/j.chom.2008.01.002 Peer Reviewed verified by ORBi |
Rungsarityotin, W., Krause, R., Schodl, A., & Schliep, A. (2007). Identifying protein complexes directly from high-throughput TAP data with Markov random fields. BMC Bioinformatics, 8, 482. doi:10.1186/1471-2105-8-482 Peer Reviewed verified by ORBi |
Chu, W., Ghahramani, Z., Krause, R., & Wild, D. L. (2006). Identifying protein complexes in high-throughput protein interaction screens using an infinite latent feature model. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 231-42. Peer reviewed |
von Mering, C., Bork, P., Dandekar, T., & Krause, R. (2004). Shared components of protein complexes--versatile building blocks or biochemical artefacts? BioEssays, 26 (12), 1333-43. doi:10.1002/bies.20141 Peer reviewed |
Krause, R., von Mering, C., & Bork, P. (2003). A comprehensive set of protein complexes in yeast: mining large scale protein-protein interaction screens. Bioinformatics, 19 (15), 1901-8. doi:10.1093/bioinformatics/btg344 Peer reviewed |
Gavin, A.-C., Bosche, M., Krause, R., Grandi, P., Marzioch, M., Bauer, A., Schultz, J., Rick, J. M., Michon, A.-M., Cruciat, C.-M., Remor, M., Hofert, C., Schelder, M., Brajenovic, M., Ruffner, H., Merino, A., Klein, K., Hudak, M., Dickson, D., ... Superti-Furga, G. (2002). Functional organization of the yeast proteome by systematic analysis of protein complexes. Nature, 415 (6868), 141-7. doi:10.1038/415141a Peer reviewed |