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![]() ![]() | I. Boothman, L. M. Clayton, M. McCormack, A. M. Driscoll, R. Stevelink, P. Moloney, R. KRAUSE et al. "Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin." Frontiers in Neuroscience, 17 (08 September 2023): 1156362. doi:10.3389/fnins.2023.1156362 ![]() |
![]() ![]() | R. Stevelink, C. Campbell, S. Chen, B. Abou-Khalil, O. M. Adesoji, Z. Afawi, E. Amadori et al. "GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture." Nature Genetics (2023). doi:10.1038/s41588-023-01485-w ![]() |
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P. Czarnewski, A. Mahfouz, R. A. Calogero, P. M. Palagi, L. Portell-Silva, A. Gonzalez-Uriarte, C. Soneson et al. "Community-driven ELIXIR activities in single-cell omics [version 1; peer review: awaiting peer review]." F1000Research, 11, no. 869 (2022). doi:10.12688/f1000research.122312.1 |
![]() ![]() | C. Campbell, M. McCormack, S. Patel, C. Stapleton, D. R. BOBBILI, R. KRAUSE, C. Depondt et al. "A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam." Epilepsia, 63, no. 6 (2022): 1563-1570. doi:10.1111/epi.17228 ![]() |
![]() ![]() | M. Koko, R. KRAUSE, T. Sander, D. R. BOBBILI, M. Nothnagel, P. MAY, H. Lerche, and Epi25 Collaborative. "Distinct gene-set burden patterns underlie common generalized and focal epilepsies." EBioMedicine, 72 (24 September 2021): 103588. doi:10.1016/j.ebiom.2021.103588 ![]() |
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![]() ![]() | R. Stevelink, J. J. Luykx, B. D. Lin, C. Leu, D. Lal, A. W. Smith, D. Schijven et al. "Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations." Epilepsia, 62, no. 7 (18 May 2021): 1518-1527. doi:10.1111/epi.16922 ![]() |
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![]() ![]() | K. Crawford, J. Xian, K. L. Helbig, P. D. Galer, S. Parthasarathy, D. Lewis-Smith, M. C. Kaufman et al. "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, no. 7 (2021): 1263-1272. doi:10.1038/s41436-021-01120-1 ![]() |
![]() ![]() | M. I. Gulcebi, E. Bartolini, O. Lee, C. P. Lisgaras, F. Onat, J. Mifsud, P. Striano et al. "Climate change and epilepsy: Insights from clinical and basic science studies." Epilepsy and Behavior, 116 (2021): 107791. doi:10.1016/j.yebeh.2021.107791 ![]() |
![]() ![]() | H. O. Heyne, D. Baez-Nieto, S. Iqbal, D. S. Palmer, A. Brunklaus, P. MAY, EPI25 Collaborative et al. "Predicting functional effects of missense variants in voltage-gated sodium and calcium channels." Science Translational Medicine, 12, no. 556 (12 August 2020): 6848. doi:10.1126/scitranslmed.aay6848 ![]() |
![]() ![]() | K. T. Gurwitz, P. Singh Gaur, L. J. Bellis, L. Larcombe, E. Alloza, B. L. Balint, A. Botzki et al. "A framework to assess the quality and impact of bioinformatics training across ELIXIR." PLoS Computational Biology, 16, no. 7 (23 July 2020): 1007976. doi:10.1371/journal.pcbi.1007976 ![]() |
![]() ![]() | S. Wolking, H. Schulz, A. T. Nies, M. McCormack, E. Schaeffeler, P. Auce, A. Avbersek et al. "Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study." Pharmacogenomics, 0, no. 0 (20 April 2020). doi:10.2217/pgs-2019-0179 ![]() |
![]() ![]() | D. Lal, P. MAY, E. Perez-Palma, K. E. Samocha, J. A. Kosmicki, E. B. Robinson, R. S. Møller et al. "Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders." Genome Medicine, 12, no. 28 (17 March 2020). doi:10.1186/s13073-020-00725-6 ![]() |
![]() ![]() | S. Wolking, C. Moreau, A. T. Nies, E. Schaeffeler, M. McCormack, P. Auce, A. Avbersek et al. "Testing association of rare genetic variants with resistance to three common antiseizure medications." Epilepsia, 61, n/a (2020): 657-666. doi:10.1111/epi.16467 ![]() |
![]() ![]() | P. D. Galer, S. Ganesan, D. Lewis-Smith, S. E. McKeown, M. Pendziwiat, K. L. Helbig, C. A. Ellis et al. "Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies." The American Journal of Human Genetics, 107, no. 4 (2020): 683 - 697. doi:10.1016/j.ajhg.2020.08.003 ![]() |
![]() ![]() | L. Garcia, B. Batut, M. L. Burke, M. Kuzak, F. Psomopoulos, R. Arcila, T. K. Attwood et al. "Ten simple rules for making training materials FAIR." PLoS Computational Biology, 16, no. 5 (2020): 1007854. doi:10.1371/journal.pcbi.1007854 ![]() |
![]() ![]() | S. Köhler, M. Gargano, N. Matentzoglu, L. C. Carmody, D. Lewis-Smith, N. A. Vasilevsky, D. Danis et al. "The Human Phenotype Ontology in 2021." Nucleic Acids Research (2020). doi:10.1093/nar/gkaa1043 ![]() |
![]() ![]() | J. Tanevski, T. Nguyen, B. Truong, N. Karaiskos, M. Eren, X. Zhang, C. Shu et al. "Gene selection for optimal prediction of cell position in tissues from single-cell transcriptomics." Life Science Alliance, 3, no. 11 (2020): 202000867. doi:10.26508/LSA.202000867 ![]() |
![]() ![]() | Y.-C. A. Feng, D. P. Howrigan, L. E. Abbott, K. Tashman, F. Cerrato, T. Singh, H. Heyne et al. "Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals." American Journal of Human Genetics (2019). doi:10.1016/j.ajhg.2019.05.020 ![]() |
![]() ![]() | I. Helbig, T. Lopez-Hernandez, O. Shor, P. Galer, S. Ganesan, M. Pendziwiat, A. Rademacher et al. "A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy." American Journal of Human Genetics (2019). doi:10.1016/j.ajhg.2019.04.001 ![]() |
![]() ![]() | H. Lerche, S. F. Berkovic, D. H. Lowenstein, EuroEPINOMICS-CoGIE, P. MAY, D. R. BOBBILI, R. KRAUSE et al. "Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy." New England Journal of Medicine, 380, no. 16 (18 April 2019): 24. doi:10.1056/NEJMc1805100 ![]() |
![]() ![]() | B. Berghuis, C. Stapleton, A. Sonsma, J. Hulst, G. de Haan, D. Lindhout, R. Demurtas et al. "A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine." Epilepsia Open (2019). doi:10.1002/epi4.12297 ![]() |
![]() ![]() | K. Silvennoinen, N. M. DE LANGE, S. Zagaglia, S. Balestrini, G. Androsova, M. Wassenaar, P. Auce et al. "Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy." Epilepsia Open, 0, no. 0 (2019). doi:10.1002/epi4.12349 ![]() |
![]() ![]() | S. B. Heavin, M. McCormack, S. Wolking, L. Slattery, N. Walley, A. Avbersek, J. Novy et al. "Genomic and clinical predictors of lacosamide response in refractory epilepsies." Epilepsia Open, 0, no. 0 (2019). doi:10.1002/epi4.12360 ![]() |
![]() ![]() | The International League Against Epilepsy Consortium on Complex Epilepsies and R. KRAUSE. "Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies." Nature Communications (2018). doi:10.1038/s41467-018-07524-z ![]() |
![]() ![]() | K. Jabbari, D. R. BOBBILI, D. Lal, E. M. Reinthaler, J. Schubert, S. Wolking, V. Sinha et al. "Rare gene deletions in genetic generalized and Rolandic epilepsies." PLoS ONE (2018). doi:10.1371/journal.pone.0202022 ![]() |
![]() ![]() | P. MAY, S. Girard, M. Harrer, D. R. BOBBILI, J. Schubert, S. Wolking, F. Becker et al. "Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study." The Lancet Neurology, 17, no. 8 (18 August 2018): 699-708. doi:10.1016/S1474-4422(18)30215-1 ![]() |
![]() ![]() | D. R. BOBBILI* , D. Lal* , P. MAY* , E. M. Reinthaler, K. Jabbari, H. Thiele, M. Nothnagel et al. "Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy." European Journal of Human Genetics (2018). doi:10.1038/s41431-017-0034-x ![]() * These authors have contributed equally to this work. |
![]() ![]() | G. Winterer, G. ANDROSOVA, O. Bender, D. Boraschi, F. Borchers, T. B. Dschietzig, I. Feinkohl et al. "Personalized risk prediction of postoperative cognitive impairment - rationale for the EU-funded BioCog project." European Psychiatry, 50 (2018): 34-39. doi:10.1016/j.eurpsy.2017.10.004 ![]() |
![]() ![]() | M. McCormack, H. Gui, A. Ingason, D. Speed, G. E. B. Wright, E. J. Zhang, R. Secolin et al. "Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients." Neurology (2017). doi:10.1212/WNL.0000000000004853 ![]() |
![]() ![]() | E. C. Niturad, D. Lev, V. M. Kalscheuer, A. Charzewska, J. Schubert, T. Lerman-Sagie, H. Y. Kroes et al. "Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features." Brain: a Journal of Neurology, 140, no. 11 (01 November 2017): 2879-2894. doi:10.1093/brain/awx236 ![]() |
![]() ![]() | I. Santolini, R. Celli, M. Cannella, T. Imbriglio, M. Guiducci, P. Parisi, J. Schubert et al. "Alterations in the α2δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies." Epilepsia (2017). doi:10.1111/epi.13898 ![]() |
![]() ![]() | G. ANDROSOVA* , R. KRAUSE* , M. Borghei, M. Wassenaar, P. Auce, A. Avbersek, F. Becker et al. "Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis." Epilepsia (2017): 1-8. doi:10.1111/epi.13871 ![]() * These authors have contributed equally to this work. |
![]() ![]() | M. Keck, G. ANDROSOVA, F. Gualtieri, A. Walker, E.-L. von Ruden, V. Russmann, C. A. Deeg, S. M. Hauck, R. KRAUSE, and H. Potschka. "A systems level analysis of epileptogenesis-associated proteome alterations." Neurobiology of Disease, 105 (30 May 2017): 164-178. doi:10.1016/j.nbd.2017.05.017 ![]() |
![]() ![]() | A. S. Allen, S. F. Berkovic, J. Bridgers, P. Cossette, D. Dlugos, M. P. Epstein, T. Glauser et al. "Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data." European Journal of Human Genetics (2017). doi:10.1038/ejhg.2017.61 ![]() |
![]() ![]() | S. Appenzeller, R. BALLING, N. Barisic, S. Baulac, H. Caglayan, D. Craiu, P. D. Jonghe et al. "De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies." American Journal of Human Genetics, 100, no. 1 (05 January 2017): 179. doi:10.1016/j.ajhg.2016.12.012 ![]() |
![]() ![]() | D. Lal, E. Reinthaler, Dejanovic, P. MAY, H. Thiele, A.-E. Lehesjoki, G. Schwarz et al. "Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes." PLoS ONE (2016). doi:10.1371/journal.pone.0150426 ![]() |
![]() ![]() | S. Köhler, N. A. Vasilevsky, M. Engelstad, E. Foster, J. McMurry, S. Aymé, G. Baynam et al. "The Human Phenotype Ontology in 2017." Nucleic Acids Research (2016). doi:10.1093/nar/gkw1039 ![]() |
![]() ![]() | H. Yamamoto, D. Wittek, R. Gupta, B. Qin, T. Ueda, R. KRAUSE, K. Yamamoto, R. Albrecht, M. Pech, and K. H. Nierhaus. "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, no. 9 (2016): 1180-9. doi:10.1073/pnas.1524554113 ![]() |
![]() ![]() | G. Allen, N. Amoroso, C. Anghel, V. Balagurusamy, C. Bare, D. Beaton, R. Bellotti et al. "Crowdsourced estimation of cognitive decline and resilience in Alzheimer's disease." Alzheimer's and Dementia: the Journal of the Alzheimer's Association, 12, no. 6 (2016): 645-653. doi:10.1016/j.jalz.2016.02.006 ![]() |
![]() ![]() | S. Syrbe, U. B. S. Hedrich, E. Riesch, T. Djémié, S. Müller, R. S. Møller, B. Maher et al. "De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy." Nature Genetics, 47, no. 4 (09 March 2015): 393-9. doi:10.1038/ng.3239 ![]() |
![]() ![]() | R. H. Thomas, L. M. Zhang, G. L. Carvill, J. S. Archer, S. B. Heavin, S. A. Mandelstam, D. Craiu et al. "CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures." Neurology, 84, no. 9 (03 March 2015): 951-958. doi:10.1212/WNL.0000000000001305 ![]() |
![]() ![]() | J. Larsen, G. L. Carvill, E. Gardella, G. Kluger, G. Schmiedel, N. Barisic, C. Depienne et al. "The phenotypic spectrum of SCN8A encephalopathy." Neurology, 84, no. 5 (03 February 2015): 480-489. doi:10.1212/WNL.0000000000001211 ![]() |
![]() ![]() | D. Lal, S. Steinbrucker, J. Schubert, T. Sander, F. Becker, Y. Weber, H. Lerche et al. "Investigation of GRIN2A in common epilepsy phenotypes." Epilepsy Research, 115 (2015): 95-9. doi:10.1016/j.eplepsyres.2015.05.010 ![]() |
![]() ![]() | G. ANDROSOVA, R. KRAUSE, G. Winterer, and R. SCHNEIDER. "Biomarkers of postoperative delirium and cognitive dysfunction." Frontiers in Aging Neuroscience, 7, no. 112 (2015). doi:10.3389/fnagi.2015.00112 ![]() |
![]() ![]() | E. C. Galizia, C. T. Myers, C. Leu, C. G. F. de Kovel, T. Afrikanova, M. L. Cordero-Maldonado, T. MARTINS et al. "CHD2 variants are a risk factor for photosensitivity in epilepsy." Brain: a Journal of Neurology (2015). doi:10.1093/brain/awv052 ![]() |
![]() ![]() | J. Schubert, A. Siekierska, M. LANGLOIS, P. MAY, C. Huneau, F. Becker, H. Muhle et al. "Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes." Nature Genetics, 46, no. 12 (02 November 2014): 1327-32. doi:10.1038/ng.3130 ![]() |
![]() ![]() | S. Appenzeller, R. BALLING, N. Barisic, S. Baulac, H. Caglayan, D. Craiu, P. De Jonghe et al. "De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies." American Journal of Human Genetics, 4 (25 September 2014): 360-370. doi:10.1016/j.ajhg.2014.08.013 ![]() |
![]() ![]() | C. Nava, C. Dalle, A. Rastetter, P. Striano, C. G. F. de Kovel, R. Nabbout, C. Cancès et al. "De novo mutations in HCN1 cause early infantile epileptic encephalopathy.". . Nature Genetics (2014). doi:10.1038/ng.2952 ![]() |
![]() ![]() | W.-C. Chang, S. Vakati, R. KRAUSE, and O. Eulenstein. "Exploring biological interaction networks with tailored weighted quasi-bicliques." BMC Bioinformatics, 13 Suppl 10 (2012): 16. doi:10.1186/1471-2105-13-S10-S16 ![]() |
![]() ![]() | M. Homilius, J. Wiedenhoeft, S. Thieme, C. Standfuss, I. Kel, and R. KRAUSE. "Cocos: Constructing multi-domain protein phylogenies." PLOS Currents, 3 (2011): 1240. doi:10.1371/currents.RRN1240 ![]() |
![]() ![]() | J. Wiedenhoeft, R. KRAUSE, and O. Eulenstein. "The plexus model for the inference of ancestral multidomain proteins." IEEE/ACM Transactions on Computational Biology and Bioinformatics, 8, no. 4 (2011): 890-901. doi:10.1109/TCBB.2011.22 ![]() |
![]() ![]() | C. Hafemeister, R. KRAUSE, and A. Schliep. "Selecting oligonucleotide probes for whole-genome tiling arrays with a cross-hybridization potential." IEEE/ACM Transactions on Computational Biology and Bioinformatics, 8, no. 6 (2011): 1642-52. doi:10.1109/TCBB.2011.39 ![]() |
![]() ![]() | A. L. Lister, R. S. Datta, O. Hofmann, R. KRAUSE, M. Kuhn, B. Roth, and R. SCHNEIDER. "Live Coverage of Scientific Conferences Using Web Technologies." PLoS Computational Biology, 6, no. 1 (2010): 1-2. doi:10.1371/journal.pcbi.1000563 ![]() |
![]() ![]() | A. L. Lister, R. S. Datta, O. Hofmann, R. KRAUSE, M. Kuhn, B. Roth, and R. SCHNEIDER. "Live Coverage of Intelligent Systems for Molecular Biology." PLoS Computational Biology, 6 (2010). doi:10.1371/journal.pcbi.1000640 ![]() |
J. S. Lee, R. KRAUSE, J. Schreiber, H.-J. Mollenkopf, J. Kowall, R. Stein, B.-Y. Jeon et al. "Mutation in the transcriptional regulator PhoP contributes to avirulence of Mycobacterium tuberculosis H37Ra strain." Cell Host and Microbe, 3, no. 2 (2008): 97-103. doi:10.1016/j.chom.2008.01.002 ![]() |
![]() ![]() | W. Rungsarityotin, R. KRAUSE, A. Schodl, and A. Schliep. "Identifying protein complexes directly from high-throughput TAP data with Markov random fields." BMC Bioinformatics, 8 (2007): 482. doi:10.1186/1471-2105-8-482 ![]() |
C. von Mering, P. Bork, T. Dandekar, and R. KRAUSE. "Shared components of protein complexes--versatile building blocks or biochemical artefacts?." BioEssays, 26, no. 12 (2004): 1333-43. doi:10.1002/bies.20141 ![]() |
![]() ![]() | R. KRAUSE, C. von Mering, and P. Bork. "A comprehensive set of protein complexes in yeast: mining large scale protein-protein interaction screens." Bioinformatics, 19, no. 15 (2003): 1901-8. doi:10.1093/bioinformatics/btg344 ![]() |
A.-C. Gavin, M. Bosche, R. KRAUSE, P. Grandi, M. Marzioch, A. Bauer, J. Schultz et al. "Functional organization of the yeast proteome by systematic analysis of protein complexes." Nature, 415, no. 6868 (2002): 141-7. doi:10.1038/415141a ![]() |
W. Chu, Z. Ghahramani, R. KRAUSE, and D. L. Wild. "Identifying protein complexes in high-throughput protein interaction screens using an infinite latent feature model." Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing (2006): 231-42. ![]() |
![]() ![]() | C. Campbell, D. Lewis-Smith, C. Leu, H. Martins, S. Wolking, R. KRAUSE, T. O’Brien et al. "Polygenic risk score analysis reveals shared genetic burden between epilepsy and psychiatric comorbidities." Eprint/Working Paper, 2023. https://orbilu.uni.lu10993/57188. doi:10.1101/2023.07.04.23292071 |
![]() ![]() | R. International League Against Epilepsy Consortium on Complex Epilepsies Krause, Z. LANDOULSI, P. MAY, R. KRAUSE, S. F. Berkovic, G. L. Cavalleri, and B. P. Koeleman. "Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture." Eprint/Working Paper, Cold Spring Harbor Laboratory Press, 2022. https://orbilu.uni.lu10993/51794. doi:10.1101/2022.06.08.22276120 |
![]() ![]() | J. Krueger, J. Schubert, J. Kegele, A. Labalme, M. Mao, J. Heighway, G. Seebohm et al. "Loss of function variants in the KCNQ5 gene are associated with genetic generalized epilepsies." Eprint/Working Paper, Cold Spring Harbor Laboratory Press, 2021. https://orbilu.uni.lu10993/46849. doi:10.1101/2021.04.20.21255696 |
![]() ![]() | M. Koko, R. KRAUSE, T. Sander, D. R. Bobbili, M. Nothnagel, P. MAY, H. Lerche, and ???. "Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets 2021.04.18.440264." Eprint/Working Paper, Cold Spring Harbor Laboratory, 2021. https://orbilu.uni.lu10993/46851. doi:10.1101/2021.04.18.440264 |