![]() ![]() | Montanucci, L., Brünger, T., Bhattarai, N., Boßelmann, C. M., Kim, S., Allen, J. P., Zhang, J., Klöckner, C., Krey, I., Fariselli, P., MAY, P., Lemke, J. R., Myers, S. J., Yuan, H., Traynelis, S. F., & Lal, D. (2024). Ligand distances as key predictors of pathogenicity and function in NMDA receptors. Human Molecular Genetics. doi:10.1093/hmg/ddae156 ![]() |
![]() ![]() | Demidov, G., Yaldiz, B., Garcia-Pelaez, J., de Boer, E., Schuermans, N., Van de Vondel, L., Paramonov, I., Johansson, L. F., Musacchia, F., Benetti, E., Bullich, G., Sablauskas, K., Beltran, S., Gilissen, C., Hoischen, A., Ossowski, S., de Voer, R., Lohmann, K., Oliveira, C., ... Laurie, S. (26 October 2024). Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. npj Genomic Medicine, 9 (1). doi:10.1038/s41525-024-00436-6 ![]() |
![]() ![]() | Khan, A., Muhammad, A., Ullah, H., Ambreen, H., Ullah, A., MAY, P., Lerche, H., Haack, T. B., Rehman, S. U., & Kegele, J. (2024). Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1. Clinical Genetics. doi:10.1111/cge.14627 ![]() |
![]() ![]() | Epi25 Collaborative, KRAUSE, R., FERREIRA DA SILVA, I., ZIZOVIC, M., & MAY, P. (October 2024). Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nature Neuroscience, 27 (10), 1864 - 1879. doi:10.1038/s41593-024-01747-8 ![]() |
![]() ![]() | Kwon, S., Safer, J., Nguyen, D. T., HOKSZA, D., MAY, P., Arbesfeld, J. A., Rubin, A. F., Campbell, A. J., Burgin, A., & Iqbal, S. (2024). Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures. Nature Methods. doi:10.1038/s41592-024-02409-0 ![]() |
![]() ![]() | Sosero, Y. L., Bandres-Ciga, S., Ferwerda, B., Tocino, M. T. P., Belloso, D. R., Gómez-Garre, P., Faouzi, J., Taba, P., PAVELKA, L., Marques, T. M., GOMES, C., KOLODKIN, A., MAY, P., Milanowski, L. M., Wszolek, Z. K., Uitti, R. J., Heutink, P., van Hilten, J. J., Simon, D. K., ... International Parkinson's Disease Genomic Consortium. (2024). Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia. Movement Disorders. doi:10.1002/mds.29960 ![]() |
![]() ![]() | ARENA, G., LANDOULSI, Z., GROSSMANN, D., Payne, T., VITALI, A., DELCAMBRE, S., BARON, A., ANTONY, P., BOUSSAAD, I., BOBBILI, D. R., Sreelatha, A. A. K., PAVELKA, L., J Diederich, N., Klein, C., Seibler, P., GLAAB, E., Foltynie, T., Bandmann, O., Sharma, M., ... COURAGE‐PD Consortium. (2024). Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease. Annals of Neurology. doi:10.1002/ana.26949 ![]() |
![]() ![]() | AHO, V., KLEE, M., LANDOULSI, Z., Heintz-Buschart, A., PAVELKA, L., LEIST, A., KRÜGER, R., MAY, P., WILMES, P., & NCER-PD Consortium. (06 April 2024). Gut microbiome is not associated with mild cognitive impairment in Parkinson's disease. NPJ Parkinson's Disease, 10 (1), 78. doi:10.1038/s41531-024-00687-1 ![]() |
![]() ![]() | Terrado-Ortuño, N., & MAY, P. (11 March 2024). Forensic DNA Phenotyping: a review on SNP Panels, Genotyping Techniques, and Prediction Models. Forensic Sciences Research, owae013. doi:10.1093/fsr/owae013 ![]() |
![]() ![]() | Bayram, E., Reho, P., Litvan, I., International LBD Genomics, C., KRÜGER, R., MAY, P., Ding, J., Gibbs, J. R., Dalgard, C. L., Traynor, B. J., Scholz, S. W., & Chia, R. (20 February 2024). Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci. NPJ Parkinson's Disease, 10 (1), 39. doi:10.1038/s41531-024-00649-7 ![]() |
![]() ![]() | Johansson, L. F., Laurie, S., Spalding, D., Gibson, S., Ruvolo, D., Thomas, C., Piscia, D., de Andrade, F., Been, G., Bijlsma, M., Brunner, H., Cimerman, S., Dizjikan, F. Y., Ellwanger, K., Fernandez, M., Freeberg, M., van de Geijn, G.-J., Kanninga, R., Maddi, V., ... Solve-RD Consortium. (02 January 2024). An interconnected data infrastructure to support large-scale rare disease research. GigaScience, 13. doi:10.1093/gigascience/giae058 ![]() |
![]() ![]() | KLEE, M., AHO, V., MAY, P., Heintz-Buschart, A., LANDOULSI, Z., JONSDOTTIR, S., PAULY, C., PAVELKA, L., DELACOUR, L., KAYSEN, A., Krüger, R., WILMES, P., LEIST, A., Acharya, G., Aguayo, G., Alexandre, M., ALI, M., Ammerlann, W., ARENA, G., ... ZELIMKHANOV, G. (2024). Education as Risk Factor of Mild Cognitive Impairment: The Link to the Gut Microbiome. Journal of Prevention of Alzheimer's Disease. doi:10.14283/jpad.2024.19 ![]() |
![]() ![]() | LANDOULSI, Z.* , PACHCHEK, S.* , BOBBILI, D. R., PAVELKA, L., MAY, P.* , KRÜGER, R.* , & NCER-PD consortium. (20 December 2023). Genetic landscape of Parkinson’s disease and related diseases in Luxembourg. Frontiers in Aging Neuroscience, 15. doi:10.3389/fnagi.2023.1282174 ![]() * These authors have contributed equally to this work. |
![]() ![]() | PAVELKA, L., RAWAL, R., GHOSH, S., PAULY, C., PAULY, L., HANFF, A.-M., KOLBER, P. L., JONSDOTTIR, S., MCINTYRE, D., AZAIZ, K., THIRY, E., Vilasboas, L., SOBOLEVA, E., GIRAITIS, M., TSURKALENKO, O., SAPIENZA, S., DIEDERICH, N., KLUCKEN, J., GLAAB, E., ... NCER-PD Consortium. (19 December 2023). Luxembourg Parkinson’s study -comprehensive baseline analysis of Parkinson’s disease and atypical parkinsonism. Frontiers in Neurology, 14. doi:10.3389/fneur.2023.1330321 ![]() |
![]() ![]() | Scholz, S. W., Moroz, B. E., Saez-Atienzar, S., Chia, R., Cahoon, E. K., Dalgard, C. L., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M., Black, S. E., Gan-Or, Z., ... Pfeiffer, R. M. (2023). Association of cardiovascular disease management drugs with Lewy body dementia: a case-control study. Brain Communications. doi:10.1093/braincomms/fcad346 ![]() |
![]() ![]() | Coppola, A., Krithika, S., Iacomino, M., BOBBILI, D. R., Balestrini, S., Bagnasco, I., Bilo, L., Buti, D., Casellato, S., Cuccurullo, C., Ferlazzo, E., Leu, C., Giordano, L., Gobbi, G., Hernandez-Hernandez, L., Lench, N., Martins, H., Meletti, S., Messana, T., ... Sisodiya, S. M. (2023). Dissecting the genetics of spectrum of Epilepsies with Eyelid Myoclonia by exome sequencing. Epilepsia. doi:10.1111/epi.17859 ![]() |
![]() ![]() | PACHCHEK, S.* , LANDOULSI, Z.* , PAVELKA, L., Schulte, C., Buena-Atienza, E., Gross, C., Hauser, A.-K., Reddy Bobbili, D., Casadei, N., MAY, P.* , KRÜGER, R.* , & NCER-PD Consortium. (23 November 2023). Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study. NPJ Parkinson's Disease, 9 (1), 156. doi:10.1038/s41531-023-00595-w ![]() * These authors have contributed equally to this work. |
![]() ![]() | HASSANIN, E. S. F. E., Lee, K.-H., Hsieh, T.-C., Aldisi, R., Lee, Y.-L., BOBBILI, D. R., Krawitz, P., MAY, P., Chen, C.-Y., & Maj, C. (23 November 2023). Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank. Frontiers in Genetics, 14. doi:10.3389/fgene.2023.1286561 ![]() ![]() |
![]() ![]() | Marcos-Zambrano, L. J., López-Molina, V. M., Bakir-Gungor, B., Frohme, M., Karaduzovic-Hadziabdic, K., Klammsteiner, T., Ibrahimi, E., Lahti, L., Loncar-Turukalo, T., Dhamo, X., Simeon, A., Nechyporenko, A., Pio, G., Przymus, P., Sampri, A., Trajkovik, V., Lacruz-Pleguezuelos, B., Aasmets, O., Araujo, R., ... Carrillo de Santa Pau, E. (22 November 2023). A toolbox of machine learning software to support microbiome analysis. Frontiers in Microbiology, 14. doi:10.3389/fmicb.2023.1250806 ![]() |
![]() ![]() | Capelle, C. M., Ciré, S., Hedin, F., HANSEN, M., PAVELKA, L., GRZYB, K., KYRIAKIS, D., Hunewald, O., Konstantinou, M., Revets, D., TSLAF, V., Marques, T. M., GOMES, C., BARON, A., Domingues, O., Gomez, M., Zeng, N., BETSOU, F., MAY, P., ... Hefeng, F. Q. (20 November 2023). Early-to-mid stage idiopathic Parkinson's disease shows enhanced cytotoxicity and differentiation in CD8 T-cells in females. Nature Communications, 14 (1), 7461. doi:10.1038/s41467-023-43053-0 ![]() |
![]() ![]() | DELOGU, F., Kunath, B. J., Queirós, P. M., HALDER, R., LEBRUN, L., Pope, P. B., MAY, P., Widder, S., MULLER, E., & WILMES, P. (2023). Forecasting the dynamics of a complex microbial community using integrated meta-omics. Nature Ecology and Evolution. doi:10.1038/s41559-023-02241-3 ![]() |
![]() ![]() | MULICA, P., Venegas, C., LANDOULSI, Z., BADANJAK, K., DELCAMBRE, S., TZIORTZIOU, M., HEZZAZ, S., Ghelfi, J., SMAJIC, S., SCHWAMBORN, J. C., Krüger, R., ANTONY, P., MAY, P., GLAAB, E., GRÜNEWALD, A.* , & Pereira, S. L.*. (20 September 2023). Comparison of two protocols for the generation of iPSC-derived human astrocytes. Biological Procedures Online, 25 (1), 26. doi:10.1186/s12575-023-00218-x ![]() * These authors have contributed equally to this work. |
![]() ![]() | Stefanski, A., Pérez-Palma, E., Brünger, T., Montanucci, L., Gati, C., Klöckner, C., Johannesen, K. M., Goodspeed, K., Macnee, M., Deng, A. T., Aledo-Serrano, Á., Borovikov, A., Kava, M., Bouman, A. M., Hajianpour, M. J., Pal, D. K., Engelen, M., Hagebeuk, E. E. O., Shinawi, M., ... Lal, D. (2023). SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain: a Journal of Neurology, 292. doi:10.1093/brain/awad292 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Banas, I., Esser, S. P., Turzynski, V., Soares, A., NOVIKOVA, P., MAY, P., Moraru, C., Hasenberg, M., Rahlff, J., WILMES, P., Klingl, A., & Probst, A. J. (2023). Spatio-functional organization in virocells of small uncultivated archaea from the deep biosphere. ISME Journal. doi:10.1038/s41396-023-01474-1 ![]() |
![]() ![]() | HASSANIN, E. S. F. S., MAY, P., & BOBBILI, D. R. (2023). Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history. BMC Medical Genomics. doi:10.1186/s12920-023-01598-5 ![]() |
![]() ![]() | Yu, E., Krohn, L., Ruskey, J. A., Asayesh, F., Spiegelman, D., Shah, Z., Chia, R., Arnulf, I., Hu, M. T. M., Montplaisir, J. Y., Gagnon, J.-F., Desautels, A., Dauvilliers, Y., Gigli, G. L., Valente, M., Janes, F., Bernardini, A., Högl, B., Stefani, A., ... Gan-Or, Z. (04 July 2023). HLA in isolated REM sleep behavior disorder and Lewy body dementia. Annals of Clinical and Translational Neurology, 10 (9), 1682-1687. doi:10.1002/acn3.51841 ![]() |
![]() ![]() | Trinh, J., Hicks, A. A., König, I. R., DELCAMBRE, S., Lüth, T., Schaake, S., Wasner, K., GHELFI, J., Borsche, M., Vilariño-Güell, C., Hentati, F., Germer, E. L., Bauer, P., Takanashi, M., Kostić, V., Lang, A. E., Brüggemann, N., Pramstaller, P. P., Pichler, I., ... GRÜNEWALD, A. (July 2023). Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease. Brain, 146 (7), 2753–2765. doi:10.1093/brain/awac464 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Kaivola, K., Chia, R., Ding, J., Rasheed, M., Fujita, M., Menon, V., Walton, R. L., Collins, R. L., Billingsley, K., Brand, H., Talkowski, M., Zhao, X., Dewan, R., Stark, A., Ray, A., Solaiman, S., Alvarez Jerez, P., Malik, L., Dawson, T. M., ... Zinman, L. (2023). Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias. Cell Genomics, 100316. doi:10.1016/j.xgen.2023.100316 ![]() |
![]() ![]() | Yaldiz, B., Kucuk, E., Hampstead, J., Hofste, T., Pfundt, R., Corominas Galbany, J., Rinne, T., Yntema, H. G., Hoischen, A., Nelen, M., Gilissen, C., consortium, S.-R. D., Riess, O., Haack, T. B., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., ... MAY, P. (03 May 2023). Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Human Genomics, 17 (1), 39. doi:10.1186/s40246-023-00485-5 ![]() |
![]() ![]() | Macnee, M., Pérez-Palma, E., Brünger, T., Klöckner, C., Platzer, K., Stefanski, A., Montanucci, L., Bayat, A., Radtke, M., Collins, R. L., Talkowski, M., Blankenberg, D., Møller, R. S., Lemke, J. R., Nothnagel, M., MAY, P., & Lal, D. (2023). CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online. Bioinformatics. doi:10.1093/bioinformatics/btad290 ![]() |
![]() ![]() | HASSANIN, E. S. F. S., Spier, I., BOBBILI, D. R., Aldisi, R., Klinkhammer, H., David, F., Dueñas, N., Hüneburg, R., Perne, C., Brunet, J., Capella, G., Nöthen, M. M., Forstner, A. J., Mayr, A., Krawitz, P., MAY, P., Aretz, S., & Maj, C. (23 March 2023). Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence. BMC Medical Genomics, 16 (1), 42. doi:10.1186/s12920-023-01469-z ![]() |
![]() ![]() | de Nies, L., Galata, V., Martin-Gallausiaux, C., DESPOTOVIC, M., BUSI, S. B., Snoeck, C. J., DELACOUR, L., Budagavi, D. P., LACZNY, C. C., HABIER, J., Lupu, P.-C., HALDER, R., Fritz, J. V., MARQUES, T., Sandt, E., O'Sullivan, M. P., GHOSH, S., SATAGOPAM, V., Consortium, C.-V., ... WILMES, P. (09 March 2023). Altered infective competence of the human gut microbiome in COVID-19. Microbiome, 11 (1), 46. doi:10.1186/s40168-023-01472-7 ![]() |
![]() ![]() | Brünger, T., Pérez-Palma, E., Montanucci, L., Nothnagel, M., Møller, R. S., Schorge, S., Zuberi, S., Symonds, J., Lemke, J. R., Brunklaus, A., Traynelis, S. F., MAY, P., & Lal, D. (01 March 2023). Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain: a Journal of Neurology, 146 (3), 923-934. doi:10.1093/brain/awac305 ![]() |
![]() ![]() | Sugier, P.-E., Lucotte, E. A., Domenighetti, C., Law, M. H., Iles, M. M., Brown, K., Amos, C., McKay, J. D., Hung, R. J., Karimi, M., Bacq-Daian, D., Boland-Augé, A., Olaso, R., Deleuze, J.-F., Lesueur, F., Ostroumova, E., Kesminiene, A., de Vathaire, F., Guénel, P., ... Elbaz, A. (14 February 2023). Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers. Movement Disorders, n/a (n/a). doi:10.1002/mds.29337 ![]() |
![]() ![]() | Iqbal, S., Brünger, T., Pérez-Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., MAY, P., & Lal, D. (February 2023). Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain: a Journal of Neurology, 146 (2), 519-533. doi:10.1093/brain/awac381 ![]() |
![]() ![]() | Vollstedt, E.-J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Karen, M., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., ... Zimprich, A. (24 January 2023). Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Movement Disorders, 38 (2), 286--303. doi:10.1002/mds.29288 ![]() |
![]() ![]() | Denommé-Pichon, A.-S., Matalonga, L., de Boer, E., Jackson, A., Benetti, E., Banka, S., Bruel, A.-L., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., Duffourd, Y., Ellwanger, K., Fallerini, C., Gilissen, C., Graessner, H., Haack, T. B., Havlovicova, M., Hoischen, A., Jean-Marçais, N., ... Alembik, Y. (19 January 2023). A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genetics in Medicine, 25 (4), 100018. doi:10.1016/j.gim.2023.100018 ![]() |
![]() ![]() | Macnee, M., Perez-Palma, E., Lopez-Rivera, J. A., Ivaniuk, A., MAY, P., Møller, R. S., & Lal, D. (2022). Data-driven historical characterization of epilepsy-associated genes. European Journal of Paediatric Neurology. doi:10.1016/j.ejpn.2022.12.005 ![]() |
![]() ![]() | KUNATH, B., HICKL, O., TEIXEIRA QUEIROS, P., MARTIN-GALLAUSIAUX, C., LEBRUN, L., HALDER, R., LACZNY, C. C., Schmidt, T. S., Hayward, M., Becher, D., Heintz-Buschart, A., DE BEAUFORT, C., Bork, P., MAY, P., & WILMES, P. (2022). Alterations of oral microbiota and impact on the gut microbiome in type 1 diabetes mellitus revealed by integrated multi-omic analyses. Microbiome. doi:10.1186/s40168-022-01435-4 ![]() |
![]() ![]() | HICKL, O., Queirós, P., WILMES, P., MAY, P., & Heintz-Buschart, A. (2022). binny: an automated binning algorithm to recover high-quality genomes from complex metagenomic datasets. Briefings in Bioinformatics. doi:10.1093/bib/bbac431 ![]() |
![]() ![]() | DE NIES, L., BUSI, S. B., KUNATH, B., MAY, P., & WILMES, P. (16 September 2022). Mobilome-driven segregation of the resistome in biological wastewater treatment. eLife, 11, 81196. doi:10.7554/eLife.81196 ![]() |
![]() ![]() | Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., ... Møller, R. S. (2022). Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. doi:10.1093/brain/awab321 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Weiss, D., LANDOULSI, Z., MAY, P., Sharma, M., Schüpbach, M., You, H., Corvol, J. C., Paschen, S., Helmers, A.-K., Barbe, M., Fink, G., Kühn, A. A., Courbon, C. B., Wojtecki, L., Damier, P., Fraix, V., Houeto, J.-L., Regis, J., Sixel-Döring, F., ... KRÜGER, R. (2022). Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study. Parkinsonism and Related Disorders. doi:10.1016/J.PARKRELDIS.2022.08.025 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Ray, A., Reho, P., Shah, Z., International LBD Genomics Consortium, MAY, P., KRÜGER, R., & Scholz, S. W. (2022). Evaluation of SORL1 in Lewy Body Dementia Identifies No Significant Associations. Movement Disorders. doi:10.1002/mds.29207 ![]() |
![]() ![]() | Reho, P., Koga, S., Shah, Z., Chia, R., KRÜGER, R., MAY, P., Consortium, T. I. L. B. D. G., Center, T. A. G., Rademakers, R., Dalgard, C. L., Boeve, B. F., Beach, T. G., Dickson, D. W., Ross, O. A., & Scholz, S. W. (2022). GRN Mutations Are Associated with Lewy Body Dementia. Movement Disorders. doi:10.1002/mds.29144 ![]() |
![]() ![]() | Domenighetti, C., Douillard, V., Sugier, P.-E., Sreelatha, A. A. K., Schulte, C., Grover, S., MAY, P., BOBBILI, D. R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A. B., Hernandez, D. G., Edsall, C., Gourraud, P.-A., Mellick, G. D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A. E., ... Consortium, E. I. P. S. D. C.-P. D. (2022). The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited. Movement Disorders. doi:10.1002/mds.29133 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Grover, S., Ashwin, A. K. S., Pihlstrom, L., Domenighetti, C., Schulte, C., Sugier, P.-E., Radivojkov-Blagojevic, M., Lichtner, P., Mohamed, O., Portugal, B., LANDOULSI, Z., MAY, P., BOBBILI, D. R., Edsall, C., Bartusch, F., Hanussek, M., Krüger, J., Hernandez, D. G., Blauwendraat, C., ... consortium, E. I. P. T. D. C.-P. D. (2022). Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium 10.1212/WNL.0000000000200699. Neurology. doi:10.1212/WNL.0000000000200699 ![]() |
![]() ![]() | Liu, H., Dehestani, M., Blauwendraat, C., Makarious, M. B., Leonard, H., Kim, J. J., Schulte, C., Noyce, A., Jacobs, B. M., Foote, I., Sharma, M., International Parkinson's Disease Genomics Consortium, Comprehensive Unbiased Risk Factor Assessment For Environment in Parkinson's Disease Consortium, LANDOULSI, Z., KRÜGER, R., MAY, P., BOBBILI, D. R., PAVELKA, L., Nalls, M., Singleton, A., ... Bandres-Ciga, S. (2022). Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors. Annals of Neurology. doi:10.1002/ana.26416 ![]() |
![]() ![]() | Lüth, T., Schaake, S., GRÜNEWALD, A., MAY, P., Trinh, J., & Weissensteiner, H. (19 May 2022). Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA. Frontiers in Genetics, 13. doi:10.3389/fgene.2022.887644 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | SMAJIC, S., Prada-Medina, C. A., LANDOULSI, Z., GHELFI, J., DELCAMBRE, S., Dietrich, C., JARAZO, J., Henck, J., Balachandran, S., PACHCHEK, S., Morris, C. M., ANTONY, P., Timmermann, B., Sauer, S., Pereira, S. L., SCHWAMBORN, J. C., MAY, P., GRÜNEWALD, A., & Spielmann, M. (29 April 2022). Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain: a Journal of Neurology, 145 (3), 964-978. doi:10.1093/brain/awab446 ![]() |
![]() ![]() | Schwarz, N., Seiffert, S., Pendziwiat, M., Rademacher, A. V., BrÃ\textonequarternger, T., Hedrich, U. B. S., Augustijn, P. B., Baier, H., Bayat, A., Bisulli, F., Buono, R. J., Bruria, B. Z., Doyle, M. G., Guerrini, R., Heimer, G., Iacomino, M., Kearney, H., Klein, K. M., Kousiappa, I., ... Weber, Y. (2022). Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 10.1212/WNL.0000000000200660. Neurology. doi:10.1212/WNL.0000000000200660 ![]() |
![]() ![]() | Koko, M., Motelow, J. E., Stanley, K. E., BOBBILI, D. R., Dhindsa, R. S., MAY, P., Network, C. E., Consortium, E. K., Project, E. P. G., Consortium, E., & Consortium, E.-C. (2022). Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study. Epilepsia. doi:10.1111/epi.17166 ![]() |
![]() ![]() | Domenighetti, C., Sugier, P.-E., Ashok Kumar Sreelatha, A., Schulte, C., Grover, S., Mohamed, O., Portugal, B., MAY, P., BOBBILI, D. R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A. B., Hernandez, D. G., Edsall, C., Mellick, G. D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A. E., ... Consortium, E. I. P. S. D. C.-P. D. (2022). Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. Movement Disorders. doi:10.1002/mds.28902 ![]() |
![]() ![]() | Pavelka, L., RAUSCHENBERGER, A., LANDOULSI, Z., PACHCHEK, S., MARQUES, T., GOMES, C., GLAAB, E., MAY, P., KRÜGER, R., & NCER-PD, C. (2022). Body-First Subtype of Parkinson's Disease with Probable REM-Sleep Behavior Disorder Is Associated with Non-Motor Dominant Phenotype. Journal of Parkinson's Disease. doi:10.3233/JPD-223511 ![]() |
![]() ![]() | Pavelka, L., RAUSCHENBERGER, A., LANDOULSI, Z., PACHCHEK, S., MAY, P., GLAAB, E., NCER-PD, C., & KRÜGER, R. (Other coll.). (2022). Age at onset as stratifier in idiopathic Parkinson's disease - effect of ageing and polygenic risk score on clinical phenotypes. NPJ Parkinson's Disease, 9 (8), 102. doi:10.1038/s41531-022-00342-7 ![]() |
![]() ![]() | DE SAEDELEER, B., MALABIRADE, A., RAMIRO GARCIA, J., HABIER, J., TREZZI, J.-P., Peters, S., DAUJEUMONT, A., HALDER, R., Jäger, C., BUSI, S. B., MAY, P., Oertel, W., Mollenhauer, B., LACZNY, C. C., Hettich, R., & WILMES, P. (2021). Systematic characterization of human gut microbiome-secreted molecules by integrated multi-omics. ISME Communications. doi:10.1038/s43705-021-00078-0 ![]() |
![]() ![]() | Hassanin, E., MAY, P., Aldisi, R., Spier, I., Forstner, A. J., Nöthen, M. M., Aretz, S., Krawitz, P., BOBBILI, D. R., & Maj, C. (2021). Breast and prostate cancer risk: the interplay of polygenic risk, rare pathogenic germline variants, and family history. Genetics in Medicine. doi:10.1016/j.gim.2021.11.009 ![]() |
![]() ![]() | Herold, M., FOUQUIER D'HEROUËL, A., MAY, P., DELOGU, F., Wienecke-Baldacchino, A., Tapp, J., Walczak, C., WILMES, P., CAUCHIE, H.-M., Fournier, G., & OGORZALY, L. (27 October 2021). Genome Sequencing of SARS-CoV-2 Allows Monitoring of Variants of Concern through Wastewater. Water, 13 (21 3018). doi:10.3390/w13213018 ![]() |
![]() ![]() | Kaivola, K., Shah, Z., Chia, R., International LBD Genomics Consortium, MAY, P., KRÜGER, R., & Scholz, S. W. (25 October 2021). Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. Brain: a Journal of Neurology, awab402. doi:10.1093/brain/awab402 ![]() |
![]() ![]() | Domenighetti, C., Sugier, P. E., Sreelatha, A. A. K., Schulte, C., Grover, S., Mohamed, O., Portugal, B., MAY, P., BOBBILI, D. R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A. B., Hernandez, D. G., Edsall, C., Mellick, G. D., Zimprich, A., Pirker, W., Rogaieva, E., Lang, A. E., ... Elbaz, A. (2021). Mendelian randomization study of smoking, alcohol, and coffee drinking in relation to Parkinso's disease. Journal of Parkinson's Disease, 1-16. doi:10.3233/JPD-212851 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | GALATA, V., BUSI, S. B., KUNATH, B., DE NIES, L., CALUSINSKA, M., HALDER, R., MAY, P., WILMES, P., & LACZNY, C. C. (2021). Functional meta-omics provide critical insights into long- and short-read assemblies. Briefings in Bioinformatics. doi:10.1093/bib/bbab330 ![]() |
![]() ![]() | Kaczmarek, A. T., Bahlmann, N., Thaqi, B., MAY, P., & Schwarz, G. (2021). Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations. Molecular Genetics and Metabolism. doi:10.1016/j.ymgme.2021.07.011 ![]() |
![]() ![]() | MARTINEZ ARBAS, S., BUSI, S. B., TEIXEIRA QUEIRÓS, P., DE NIES, L., HEROLD, M., MAY, P., WILMES, P., MULLER, E., & NARAYANASAMY, S. (2021). Challenges, Strategies, and Perspectives for Reference-Independent Longitudinal Multi-Omic Microbiome Studies. Frontiers in Genetics. doi:10.3389/fgene.2021.666244 ![]() |
![]() ![]() | TEIXEIRA QUEIROS, P., DELOGU, F., HICKL, O., MAY, P., & WILMES, P. (June 2021). Mantis: flexible and consensus-driven genome annotation. GigaScience, 10 (6). doi:10.1093/gigascience/giab042 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | TEIXEIRA QUEIROS, P., NOVIKOVA, P., WILMES, P., & MAY, P. (2021). Unification of functional annotation descriptions using text mining. Biological Chemistry. doi:10.1515/hsz-2021-0125 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Amanat, S., Gallego-Martinez, A., Sollini, J., Perez-Carpena, P., Espinosa-Sanchez, J. M., Aran, I., Soto-Varela, A., Batuecas-Caletrio, A., Canlon, B., MAY, P., Cederroth, C. R., & Lopez-Escamez, J. A. (April 2021). Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine, 66 (103309). doi:10.1016/j.ebiom.2021.103309 ![]() |
![]() ![]() | BUSI, S. B.* , DE NIES, L.* , HABIER, J., Wampach, L., Heintz-Buschart, A., FRITZ, J., HALDER, R., MAY, P., de Beaufort, C., & WILMES, P. (2021). Persistence of birth mode-dependent effects on gut microbiome composition, immune system stimulation and antimicrobial resistance during the first year of life. ISME Communications. doi:10.1038/s43705-021-00003-5 ![]() * These authors have contributed equally to this work. |
![]() ![]() | Grover, S., Kumar-Sreelatha, A. A., Bobbili, D. R., MAY, P., Domenighetti, C., Sugier, P.-E., Schulte, C., COURAGE-PD Consortium, Elbaz, A., KRÜGER, R., Gasser, T., & Sharma, M. (2021). Replication of a Novel Parkinson's Locus in a European Ancestry Population. Movement Disorders. doi:10.1002/mds.28546 ![]() |
![]() ![]() | Moreno-Indias, I., Lahti, L., Nedyalkova, M., Elbere, I., Roshchupkin, G., Adilovic, M., Aydemir, O., Bakir-Gungor, B., Santa Pau, E. C.-D., D’Elia, D., DESAI, M., Falquet, L., Gundogdu, A., Hron, K., Klammsteiner, T., Lopes, M. B., Marcos-Zambrano, L. J., Marques, C., Mason, M., ... Claesson, M. J. (22 February 2021). Statistical and Machine Learning Techniques in Human Microbiome Studies: Contemporary Challenges and Solutions. Frontiers in Microbiology, 12, 277. doi:10.3389/fmicb.2021.635781 ![]() |
![]() ![]() | DE NIES, L., Lopes, S., BUSI, S. B., GALATA, V., Heintz-Buschart, A., LACZNY, C. C., MAY, P., & WILMES, P. (2021). PathoFact: a pipeline for the prediction of virulence factors and antimicrobial resistance genes in metagenomic data. Microbiome. doi:10.1186/s40168-020-00993-9 ![]() |
![]() ![]() | Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., Makarious, M. B., Diez-Fairen, M., Portley, M. K., Shah, Z., Abramzon, Y., Hernandez, D. G., Blauwendraat, C., Stone, D. J., Eicher, J., ... Scholz, S. W. (2021). Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics. doi:10.1038/s41588-021-00785-3 ![]() |
![]() ![]() | Dewan, R., Chia, R., Ding, J., Hickman, R. A., Stein, T. D., Abramzon, Y., Ahmed, S., Sabir, M. S., Portley, M. K., Tucci, A., Ibáñez, K., Shankaracharya, F. N. U., Keagle, P., Rossi, G., Caroppo, P., Tagliavini, F., Waldo, M. L., Johansson, P. M., Nilsson, C. F., ... Traynor, B. J. (03 February 2021). Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron, 109 (3), 448-460. doi:10.1016/j.neuron.2020.11.005 ![]() |
![]() ![]() | Van Den Bossche, T., KUNATH, B., Schallert, K., Schäpe, S. S., Abraham, P. E., Armengaud, J., Arntzen, M. Ø., Bassignani, A., Benndorf, D., Fuchs, S., Giannone, R. J., Griffin, T. J., Hagen, L. H., HALDER, R., Henry, C., Hettich, R. L., Heyer, R., Jagtap, P., Jehmlich, N., ... Muth, T. (2021). Critical Assessment of MetaProteome Investigation (CAMPI): a multi-laboratory comparison of established workflows. Nature Communications, 12 (1), 7305. doi:10.1038/s41467-021-27542-8 ![]() |
![]() ![]() | MARTINEZ ARBAS, S., NARAYANASAMY, S., Herold, M., LEBRUN, L., Hoopmann, M. R., Li, S., Lam, T. J., Kunath, B. J., Hicks, N. D., Liu, C. M., Price, L. B., LACZNY, C. C., Gillece, J. D., Schupp, J. M., Keim, P. S., Moritz, R. L., Faust, K., Tang, H., Ye, Y., ... WILMES, P. (2021). Roles of bacteriophages, plasmids and CRISPR immunity in microbial community dynamics revealed using time-series integrated meta-omics. Nature Microbiology, 6 (1), 123--135. doi:10.1038/s41564-020-00794-8 ![]() |
![]() ![]() | Schote, A. B., Schiel, F., Schmitt, B., Winnikes, U., Frank, N., Gross, K., Croyé, M.-A., Tarragon, E., Bekhit, A., Bobbili, D. R., MAY, P., Schick, C., & Meyer, J. (2020). Genome-wide linkage analysis of families with primary hyperhidrosis. PLoS ONE. doi:10.1371/journal.pone.0244565 ![]() |
![]() ![]() | MARTINEZ ARBAS, S.* , Narayanasamy, S.* , Herold, M., LEBRUN, L., Hoopmann, M. R., Li, S., Lam, T. J., KUNATH, B., Hicks, N. D., Liu, C. M., Price, L. B., LACZNY, C. C., Gillece, J. D., Schupp, J. M., Keim, P. S., Moritz, R. L., Faust, K., Tang, H., Ye, Y., ... WILMES, P. (2020). Roles of bacteriophages, plasmids and CRISPR immunity in microbial community dynamics revealed using time-series integrated meta-omics. Nature Microbiology. ![]() * These authors have contributed equally to this work. |
![]() ![]() | iqbal, S., Perez-Palma, E., Jespersen, J. B., MAY, P., HOKSZA, D., Heyne, H. O., Ahmed, S. S., Rifat, Z. T., Rahman, M. S., Lage, K., Palotie, A., Cottrell, J. R., Wagner, F. F., Daly, M. J., Camphell, A. J., & Lal, D. (2020). Comprehensive characterization of amino acidpositions in protein structures reveals moleculareffect of missense variants. Proceedings of the National Academy of Sciences of the United States of America. doi:10.1073/pnas.2002660117 ![]() |
![]() ![]() | Herold, M., MARTINEZ ARBAS, S., Narayanasamy, S., Sheik, A. R., Kleine-Borgmann, L. A. K., LEBRUN, L., KUNATH, B., Roume, H., Bessarab, I., Williams, R. B. H., Gillece, J. D., Schupp, J. M., Keim, P. S., Jäger, C., Hoopman, M. R., Moritz, R. L., Ye, Y., Li, S., Tang, H., ... WILMES, P. (2020). Integration of time-series meta-omics data reveals how microbial ecosystems respond to disturbance. Nature Communications. doi:10.1038/s41467-020-19006-2 ![]() |
![]() ![]() | GOLEBIEWSKA, A., Hau, A.-C., Oudin, A., Stieber, D., Yabo, Y. A., Baus, V., Barthelemy, V., Klein, E., Bougnaud, S., Keunen, O., Wantz, M., MICHELUCCI, A., Neirinckx, V., Muller, A., Kaoma, T., Nazarov, P. V., AZUAJE, F., De Falco, A., Flies, B., ... NICLOU, S. (2020). Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology. Acta Neuropathologica. doi:10.1007/s00401-020-02226-7 ![]() |
![]() ![]() | Acharya, S., Salgado-Somoza, A., Stefanizzi, F. M., Lumley, A. I., Zhang, L., GLAAB, E., MAY, P., & Devaux, Y. (06 September 2020). Non-Coding RNAs in the Brain-Heart Axis: The Case of Parkinson’s Disease. International Journal of Molecular Sciences, 21 (18), 6513. doi:10.3390/ijms21186513 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Hartl, D.* , MAY, P.* , GU, W.* , Mayhaus, M., Pichler, S., Spaniol, C., GLAAB, E., BOBBILI, D. R., ANTONY, P., Köglsberger, S., Kurz, A., Grimmer, T., Morgan, K., Vardarajan, B. N., Reitz, C., Hardy, J., Bras, J., Guerreiro, R., AESG, ... Riemenschneider, M. (09 July 2020). A rare loss-of function variant of ADAM17 is associated with late-onset familial Alzheimer disease. Molecular Psychiatry, 25 (3), 629-639. doi:10.1038/s41380-018-0091-8 ![]() * These authors have contributed equally to this work. |
![]() ![]() | Iqbal, S., HOKSZA, D., Pérez-Palma, E., MAY, P., Jespersen, J. B., Ahmed, S. S., Rifat, Z. T., Heyne, H. H., Rahman, M. S., Cottrell, J. R., Wagner, F. F., Daly, M. J., Campbell, A. J., & Lal, D. (2020). MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. Nucleic Acids Research. doi:10.1093/nar/gkaa361 ![]() |
![]() ![]() | Chatron, N., Becker, F., Morsy, H., Schmidts, M., Hardies, K., Tuysuz, B., Roselli, S., Najafi, M., Alkaya, D. U., Ashrafzadeh, F., Nabil, A., Omar, T., Maroofian, R., Karimiani, E. G., Hussein, H., Kok, F., Ramos, L., Gunes, N., Bilguvar, K., ... Tajsharghi, H. (2020). Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain: a Journal of Neurology. doi:10.1093/brain/awaa085 ![]() |
![]() ![]() | OHNMACHT, J., MAY, P., SINKKONEN, L., & KRÜGER, R. (2020). Missing heritability in Parkinson’s disease: the emerging role of non‑coding genetic variation. Journal of Neural Transmission. doi:10.1007/s00702-020-02184-0 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Bobbili, D. R., BANDA, P., KRÜGER, R., & MAY, P. (2020). Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk. Journal of Medical Genetics. doi:10.1136/jmedgenet-2019-106316 ![]() |
![]() ![]() | Perez-Palma, E., MAY, P., Iqbal, S., Niestroj, L.-M., Du, J., Heyne, H. O., Castrillon, J. A., O'Donnell-Luna, A., Nürnberg, P., Palotie, A., Daly, M., & Lal, D. (January 2020). Identification of pathogenic variant enriched regions across genes and gene families. Genome Research, 30 (1), 62-71. doi:10.1101/gr.252601.119 ![]() |
![]() ![]() | BOUSSAAD, I., Obermaier, C. D., Hanss, Z., Bobbili, D. R., BOLOGNIN, S., GLAAB, E., Wołyńska, K., Weisschuh, N., De Conti, L., May, C., Giesert, F., Grossmann, D., Lambert, A., Kirchen, S., BIRYUKOV, M., Burbulla, L. F., Massart, F., Bohler, J., Cruciani, G., ... KRÜGER, R. (2020). A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease. Science Translational Medicine, 12 (560). doi:10.1126/scitranslmed.aau3960 ![]() |
![]() ![]() | Gallego-Martinez, A., Requena, T., Roman-Naranjo, P., MAY, P., & Lopez-Escamez, J. A. (2019). Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease. Journal of Medical Genetics. doi:10.1136/jmedgenet-2019-106159 ![]() |
![]() ![]() | Niestroj, L.-M., MAY, P., Artomov, M., Kobow, K., Coras, R., Pérez-Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M. J., Klein, K.-M., Beschorner, R., Weber, Y. G., Blümcke, I., & Lal, D. (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. European Journal of Human Genetics. doi:10.1038/s41431-019-0484-4 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | GROSSMANN, D., BERENGUER, C., Bellet, M. E., Scheibner, D., Bohler, J., MASSART, F., Rapaport, D., SKUPIN, A., FOUQUIER D'HÉROUËL, A., Sharma, M., GHELFI, J., Rakovic, A., Lichtner, P., ANTONY, P., GLAAB, E., MAY, P., Dimmer, K. S., Fitzgerald, J. C., GRÜNEWALD, A., & KRÜGER, R. (2019). Mutations in RHOT1 disrupt ER-mitochondria contact sites interfering with calcium homeostasis and mitochondrial dynamics in Parkinson's disease. Antioxidants & redox signaling. doi:10.1089/ars.2018.7718 ![]() |
![]() ![]() | Pérez-Palma, E., Gramm, M., Nürnberg, P., MAY, P., & Lal, D. (2019). Simple ClinVar:an interactive web server to explore and retrieve gene and disease variants 1 aggregated in ClinVar database. Nucleic Acids Research. doi:10.1093/nar/gkz411 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Du, J., Sudarsanam, M., Pérez-Palma, E., Ganna, A., Francioli, L., Iqbal, S., Niestroj, L.-M., Leu, C., Weisburd, B., Poterba, B., Nürnberg, P., Daly, M. J., Palotie, A., MAY, P., & Lal, D. (2019). Variant Score Ranker - a web application for intuitive missense variant prioritization. Bioinformatics. doi:10.1093/bioinformatics/btz252 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Pölönen, P., Mehtonen, J., Lin, J., Liuksiala, T., Häyrynen, S., Teppo, S., Mäkinen, A., Kumar, A., Malani, D., Pohjolainen, V., Porkka, K., Heckman, C. A., MAY, P., Hautamäki, V., Granberg, K., Lohi, O., Nykter, M., & Heinäniemi, M. (2019). Hemap: An nteractive online resource for characterizing molecular phenotypes across hematologic malignancies. Cancer Research. doi:10.1158/0008-5472.CAN-18-2970 ![]() |
![]() ![]() | Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S. N., Partoens, M. L., Sourbron, J., Zhang, Y., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J.-S., Giong, H.-K., Distelmaier, F., Elpeleg, O., Helbig, K. L., Hersh, J., Isikay, S., Jordan, E., ... De Jonghe, P. (12 February 2019). Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nature Communications, 10 (1), 708. doi:10.1038/s41467-018-07953-w ![]() |
![]() ![]() | Wolking, S., MAY, P., Mei, D., Møller, R. S., Balestrini, S., Helbig, K. L., Altuzurra, C. D., Chatron, N., Kaiwar, C., Stöhr, K., Widdess-Walsh, P., Mendelsohn, B. A., Numis, A., Cilio, M. R., Van Paesschen, W., Svendsen, L. L., Oates, S., Hughes, E., Goyal, S., ... Schubert, J. (08 February 2019). Clinical spectrum of STX1B-related epileptic disorders. Neurology, 92, 1-12. doi:10.1212/WNL.0000000000007089 ![]() |
![]() ![]() | Maljevic, S., Møller, R. S., Reid, C. A., Pérez-Palma, E., Lal, D., MAY, P., & Lerche, H. (2019). Spectrum of GABAA receptor variants in epilepsy. Current Opinion in Neurology. doi:10.1097/WCO.0000000000000657 ![]() |
![]() ![]() | Zhang, Z., Jung, P., GROUES, V., MAY, P., LINSTER, C., & GLAAB, E. (2019). BSA4Yeast: Web-based quantitative trait locus linkage analysis and bulk segregant analysis of yeast sequencing data. GigaScience, 8 (6), 060. doi:10.1093/gigascience/giz060 ![]() |
![]() ![]() | Niestroj, L.-M., Du, J., Nothnagel, M., MAY, P., Palotie, A., Daly, M. J., Nürnberg, P., Blümcke, I., & Lal, D. (2018). Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. doi:10.1111/epi.14579 ![]() |
![]() ![]() | Gutbier, S., MAY, P., Berthelot, S., Krishna, A., Trefzer, T., Behbehani, M., Effremova, L., Delp, J., Gstraunthaler, G., Waldmann, T., & Leist, M. (2018). Major changes of cell function and toxicant sensitivity in cultured cells undergoing mild, quasi-natural genetic drift. Archives of Toxicology. doi:10.1007/s00204-018-2326-5 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | MALABIRADE, A., HABIER, J., Heintz-Buschart, A., MAY, P., Godet, J., HALDER, R., Etheridge, A., Galas, D., WILMES, P., & FRITZ, J. (30 July 2018). The RNA Complement of Outer Membrane Vesicles From Salmonella enterica Serovar Typhimurium Under Distinct Culture Conditions. Frontiers in Microbiology, 9, 2015. doi:10.3389/fmicb.2018.02015 ![]() |
![]() ![]() | Heyne, H. O., Singh, T., Stamberger, H., Jamra, R. A., Caglayan, H., Craiu, D., De Jonghe, P., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T., MAY, P., Muhle, H., Møller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., ... Lemke, J. R. (2018). De novo Variants in Neurodevelopmental Disorders with Epilepsy. Nature Genetics. doi:10.1038/s41588-018-0143-7 ![]() |
![]() ![]() | Heintz-Buschart, A., Yusuf, D., KAYSEN, A., Etheridge, A., FRITZ, J., MAY, P., de Beaufort, C., Upadhyaya, B. B., Ghosal, A., Galas, D. J., & WILMES, P. (14 May 2018). Small RNA profiling of low biomass samples: identification and removal of contaminants. BMC Biology, 16 (52). doi:10.1186/s12915-018-0522-7 ![]() |
![]() ![]() | MAY, P.* , Pichler, S.* , Hartl, D., BOBBILI, D. R., Mayhaus, M., Spaniol, C., Kurz, A., BALLING, R., SCHNEIDER, J., & Riemenschneider, M. (01 April 2018). Rare ABCA7 variants in 2 German families with Alzheimer disease. Neurology. Genetics, 4 (2). doi:10.1212/NXG.0000000000000224 ![]() * These authors have contributed equally to this work. |
![]() ![]() | JUNG, P., ZHANG, Z., PACZIA, N., Jäger, C., Ignac, T., MAY, P., & LINSTER, C. (12 March 2018). Natural variation of chronological aging in the Saccharomyces cerevisiae species reveals diet-dependent mechanisms of life span control. npj Aging and Mechanisms of Disease, 4 (3). doi:10.1038/s41514-018-0022-6 ![]() |
![]() ![]() | Fitzgerald, J. C., Zimprich, A., BOBBILI, D. R., Sharma, M., MAY, P., & KRÜGER, R. (2018). Reply: No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease. Brain: a Journal of Neurology. doi:10.1093/brain/awx380 ![]() |
![]() ![]() | 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 ![]() * These authors have contributed equally to this work. |
![]() ![]() | WAMPACH, L., HEINTZ, A., FRITZ, J., RAMIRO GARCIA, J., HABIER, J., HEROLD, M., NARAYANASAMY, S., KAYSEN, A., Hogan, A., Bindl, L., Bottu, J., HALDER, R., Sjöqvist, C., MAY, P., Andersson, A., DE BEAUFORT, C., & WILMES, P. (2018). Birth mode is associated with earliest strain-conferred gut microbiome functions and immunostimulatory potential. Nature Communications. doi:10.1038/s41467-018-07631-x ![]() |
![]() ![]() | Ellens, K. W., Christian, N., SATAGOPAM, V., MAY, P., & LINSTER, C. (16 November 2017). Confronting the catalytic dark matter encoded by sequenced genomes. Nucleic Acids Research, 45 (20), 11495-11514. doi:10.1093/nar/gkx937 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Fitzgerald, J. C., Zimprich, A., Carvajal-Berrio, D. A., Schindler, K. M., Maurer, B., Schulte, C., Bus, C., Hauser, A.-K., Kübler, M., Lewin, R., BOBBILI, D. R., Schwarz, L. M., Vartholomaiou, E., Brockmann, K., Wüst, R., Madlung, J., Nordheim, A., Riess, O., Martins, L. M., ... KRÜGER, R. (24 August 2017). Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease. Brain: a Journal of Neurology, 140 (9), 2444-2459. doi:10.1093/brain/awx202 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Blauwendraat, C., Faghri, F., Pihlstrom, L., Geiger, J. T., Elbaz, A., Lesage, S., MAY, P., Aude, N., Abramzon, Y., Murphy, N. A., Gibbs, J. R., Ryten, M., Ferrari, R., Bras, J., Guerreiro, R., Williams, J., Sims, R., Lubbe, S., Hernandez, D. G., ... Scholz, S. W. (2017). NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging. doi:10.1016/j.neurobiolaging.2017.05.009 ![]() |
![]() ![]() | Santiago-Sim, T., Burrage, L. C., Ebstein, F., Tokita, M. J., Miller, M., Bi, W., Braxton, A. A., Rosenfeld, J. A., Shahrour, M., Lehmann, A., Cogne, B., Küry, S., Besnard, T., Isidor, B., Bézieau, S., Hazert, I., Nagakura, H., Immken, L. L., Littlejohn, R. O., ... Walkiewicz, M. A. (06 April 2017). Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. American Journal of Human Genetics, 100 (4), 676-688. doi:10.1016/j.ajhg.2017.03.001 ![]() |
![]() ![]() | Marini, C., Hardies, K., Pisano, T., MAY, P., Weckhuysen, S., Cellini, E., Suls, A., Mei, D., BALLING, R., De Jonghe, P., Helbig, I., Garozzo, D., EuroEPINOMICS consortium AR working group, & Guerrini, R. (April 2017). Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. American Journal of Medical Genetics. Part A, 173 (4), 1119-1123. doi:10.1002/ajmg.a.38112 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | NARAYANASAMY, S., JAROSZ, Y., MULLER, E., BUSCHART, A., HEROLD, M., KAYSEN, A., LACZNY, C. C., Pinel, N., MAY, P., & WILMES, P. (December 2016). IMP: a pipeline for reproducible referenceindependent integrated metagenomic and metatranscriptomic analyses. Genome Biology, 17, 260. doi:10.1186/s13059-016-1116-8 ![]() |
![]() ![]() | de Kovel, C. G. F., Brilstra, E. H., van Kempen J.A., van't Slot, R., Nijman, I. J., Afawi, Z., De Jonghe, P., Djemie, T., Guerrini, R., Hardies, K., Helbig, I., Hendrickx, R., Kanaan, M., Kramer, U., Lehesjoki, A.-E. E., Lemke, J. R., Marini, C., Mei, D., Moller, R. S., ... Koeleman, B. P. C. (30 July 2016). Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Molecular Genetics and Genomic Medicine, 4 (5), 568-80. doi:10.1002/mgg3.235 ![]() |
![]() ![]() | Hardies, K., Cai, Y., Jardel, C., Jansen, A. C., Cao, M., MAY, P., Djémié, T., Hachon Le Camus, C., Keymolen, K., Deconinck, T., Bhambhani, V., Long, C., Sajan, S. A., Helbig, K. L., Suls, A., BALLING, R., Helbig, I., De Jonghe, P., Depienne, C., ... Weckhuysen, S. (2016). Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain: a Journal of Neurology. doi:10.1093/brain/aww180 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Schäfer, T., Bruneß, D., Scheck, A., MAY, P., & Koch, I. (01 February 2016). The new Protein Topology Graph Library web server. Bioinformatics, 32 (3), 474-6. doi:10.1093/bioinformatics/btv563 ![]() |
![]() ![]() | LACZNY, C. C., MULLER, E., HEINTZ, A., HEROLD, M., LEBRUN, L., Hogan, A., MAY, P., DE BEAUFORT, C., & WILMES, P. (2016). Identification, recovery, and refinement of hitherto undescribed population-level genomes from the human gastrointestinal tract. Frontiers in Microbiology, 7 (884). doi:10.3389/fmicb.2016.00884 ![]() |
![]() ![]() | HEINTZ, A., MAY, P., Laczny, C. C., LEBRUN, L., Bellora, C., Krishna, A., WAMPACH, L., SCHNEIDER, J., Hogan, A., DE BEAUFORT, C., & WILMES, P. (2016). Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes. Nature Microbiology, 2, 16180. doi:10.1038/NMICROBIOL.2016.180 ![]() |
![]() ![]() | HEINTZ, A., MAY, P., Laczny, C. C., LEBRUN, L., Bellora, C., Krishna, A., WAMPACH, L., SCHNEIDER, J., Hogan, A., Beaufort, C. D., & WILMES, P. (2016). Erratum: Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes. Nature Microbiology, 2, 16227. doi:10.1038/nmicrobiol.2016.227 ![]() |
![]() ![]() | Ameziane, N., MAY, P., Van de Vrugt, H. J., Van Rossum-Fikkert, S. E., Ristic, D., Williams, G. J., Balk, J., Rockx, D., Li, H., Rooimans, M. A., Oostra, A. B., Velleuer, E., Dietrich, R., Bleijerveld, O. B., Altelaar, A. F. M., Meijers-Heijboer, H., Joenje, H., Glusman, G., Roach, J. C., ... Dorsman, J. C. (18 December 2015). A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51. Nature Communications, 6 (8829). doi:10.1038/ncomms9829 ![]() |
![]() ![]() | Cary, G. A., Vinh, D. B. H., MAY, P., Kuestner, R., & Dudley, A. M. (2015). Proteomic analysis of Dhh1 complexes reveals a role for Hsp40 chaperone Ydj1 in yeast P-body assembly. G3. doi:10.1534/g3.115.021444 ![]() |
![]() ![]() | Hardies, K., de Kovel, C. G. F., Weckhuysen, S., Asselbergh, B., Geuens, T., Deconnick, T., Azmi, A., MAY, P., Brilstra, E., Becker, F., Barisic, N., Craiu, D., Braun, K., Lal, D., Thiele, H., Schubert, J., Weber, Y., van't Slot, R., Autosomal recessive working group of the EuroEPINOMICS RES Consortium, ... De Jonghe, P. (2015). Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain: a Journal of Neurology. doi:10.1093/brain/awv263 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Hardies, K., MAY, P., Djémié, T., Tarta-Arsene, O., Deconinck, T., Craiu, D., EuroEPINOMICS RES Consortium, Helbig, I., Suls, A., BALLING, R., Weckhuysen, S., De Jonghe, P., & Hirst, J. (2015). Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Human Molecular Genetics, 24 (8), 2218-2227. doi:10.1093/hmg/ddu740 ![]() |
![]() ![]() | ROUME, H., BUSCHART, A., MULLER, E., MAY, P., SATAGOPAM, V., LACZNY, C. C., NARAYANASAMY, S., LEBRUN, L., Hoopmann, M., Schupp, J., Gillece, J., Hicks, N., Engelthaler, D., SAUTER, T., Keim, P., Moritz, R., & WILMES, P. (2015). Comparative integrated omics: identification of key functionalities in microbial community-wide metabolic networks. Biofilms and Microbiomes, 1 (15007). doi:10.1038/npjbiofilms.2015.7 ![]() |
![]() ![]() | KRISHNA, A., BIRYUKOV, M., TREFOIS, C., ANTONY, P., Hussong, R., LIN, J., Heinäniemi, M., Glusman, G., Köglsberger, S., BOYD, O., van den Berg, B. H. J., Linke, D., Huang, D., Wang, K., Hood, L., Tholey, A., SCHNEIDER, R., GALAS, D. J., BALLING, R., & MAY, P. (20 December 2014). Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson’s disease. BMC Genomics, 15 (1154). doi:10.1186/1471-2164-15-1154 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | MULLER, E., Pinel, N., LACZNY, C. C., Hoopmann, M., NARAYANASAMY, S., LEBRUN, L., ROUME, H., LIN, J., MAY, P., Hicks, N., BUSCHART, A., WAMPACH, L., Liu, C., Price, L., Gillece, J., Guignard, C., Schupp, J., VLASSIS, N., Baliga, ... WILMES, P. (2014). Community-integrated omics links dominance of a microbial generalist to fine-tuned resource usage. Nature Communications. doi:10.1038/ncomms6603 ![]() |
![]() ![]() | Eibelt, U., Trovato, A., Kloth, M., Gentz, E., Finke, R., Spranger, J., GALAS, D. J., Weber, S., WOLF, C.-A., König, K., Arlt, W., Büttner, R., MAY, P., Allolio, B., & SCHNEIDER, J. (2014). Molecular and Clinical Evidence for an ARMC5 Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations are Associated with both Primary Macronodular Adrenal Hyperplasia and Meningioma. Journal of Clinical Endocrinology and Metabolism. doi:10.1210/jc.2014-2648 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Lohse, M., Nagel, A., Herter, T., MAY, P., Schroda, M., Zrenner, R., Tohge, T., Fernie, A. R., Stitt, M., & Usadel, B. (2014). Mercator: A fast and simple web server for genome scale functional annotation of plant sequence data. Plant, Cell and Environment, 37 (5), 1250-8. doi:10.1111/pce.12231 ![]() |
![]() ![]() | LIN, J., Kreisberg, R., Kallio, A., Dudley, A. M., Nykter, M., Shmulevich, I., MAY, P., & Autio, R. (24 December 2013). POMO - Plotting Omics analysis results for Multiple Organisms. BMC Genomics, 14 (918). doi:10.1186/1471-2164-14-918 ![]() |
![]() ![]() | Cromie, G. A., Hyma, K. E., Ludlow, C. L., Garmendia-Torres, C., Gilbert, T. L., MAY, P., Huang, A. A., Dudley, A. M., & Fay, J. C. (01 December 2013). Genomic Sequence Diversity and Population Structure of Saccharomyces cerevisiae Assessed by RAD-seq. Genes, Genomes and Genomics, 3 (12), 2163-2171. doi:10.1534/g3.113.007492 ![]() |
![]() ![]() | MAY, P., Liao, W., Wu, Y., Shuai, B., McCombie, W. R., Zhang, M., & Liu, Q. (31 July 2013). The Effects of Carbon Dioxide and Temperature on microRNA Expression in Arabidopsis Development. Nature Communications, 4 (2145). doi:10.1038/ncomms3145 ![]() |
![]() ![]() | Ludlow, C. L., Scott, A. C., Cromie, G. A., Jeffery, E. W., Sirr, A., MAY, P., Lin, J., Gilbert, T. L., Hays, M., & Dudley, A. M. (12 April 2013). High-throughput tetrad analysis. Nature Methods, 10, 671-675. doi:10.1038/nmeth.2479 ![]() |
![]() ![]() | Toepel, J., Illmer-Kephalides, M., Jaenicke, S., Straube, J., MAY, P., Goesmann, A., & Kruse, O. (2013). New insights into Chlamydomonas reinhardtii hydrogen production processes by combined microarray/RNA-seq transcriptomics. Plant Biotechnology Journal. doi:10.1111/pbi.12062 ![]() |
![]() ![]() | Haitjema, A., Brandt, B. W., Ameziane, N., MAY, P., Heringa, J., de Winter, J. P. J., & Dorsman, J. C. (2013). A Protein Prioritization Approach Tailored for the FA/BRCA Pathway. PLoS ONE, 8 (4), 62017. doi:10.1371/journal.pone.0062017 ![]() |
![]() ![]() | MULLER, E., GLAAB, E., MAY, P., VLASSIS, N., & WILMES, P. (2013). Condensing the omics fog of microbial communities. Trends in Microbiology, 21 (7), 325–333. doi:10.1016/j.tim.2013.04.009 ![]() |
![]() ![]() | Koch, I., Kreuchwig, A., & MAY, P. (2013). Hierarchical representation of supersecondary structures using a graph-theoretical approach. Methods in Molecular Biology, 932, 7-33. doi:10.1007/978-1-62703-065-6_2 ![]() |
![]() ![]() | Thieme, C. J., Schudoma, C., MAY, P., & Walther, D. (2012). Give It AGO: The Search for miRNA-Argonaute Sorting Signals in Arabidopsis thaliana Indicates a Relevance of Sequence Positions Other than the 5'-Position Alone. Frontiers in Plant Science, 3, 272. doi:10.3389/fpls.2012.00272 ![]() |
![]() ![]() | Devers, E. A.* , Branscheid, A.* , MAY, P.* , & Krajinski, F. (2011). Stars and symbiosis: microRNA- and microRNA*-mediated transcript cleavage involved in arbuscular mycorrhizal symbiosis. Plant Physiology, 156 (4), 1990-2010. doi:10.1104/pp.111.172627 ![]() * These authors have contributed equally to this work. |
![]() ![]() | Lenz, D., MAY, P., & Walther, D. (2011). Comparative analysis of miRNAs and their targets across four plant species. BMC Research Notes, 4, 483. doi:10.1186/1756-0500-4-483 ![]() |
![]() ![]() | Branscheid, A.* , Devers, E. A.* , MAY, P.* , & Krajinski, F. (2011). Distribution pattern of small RNA and degradome reads provides information on miRNA gene structure and regulation. Plant Signaling and Behavior, 6 (10), 1609-11. doi:10.4161/psb.6.10.17305 ![]() * These authors have contributed equally to this work. |
![]() ![]() | MAY, P., CHRISTIAN, N., Ebenhoh, O., Weckwerth, W., & Walther, D. (2011). Integration of proteomic and metabolomic profiling as well as metabolic modeling for the functional analysis of metabolic networks. Methods in Molecular Biology, 694, 341-63. doi:10.1007/978-1-60761-977-2_21 ![]() |
![]() ![]() | Wienkoop, S., Weiss, J., MAY, P., Kempa, S., Irgang, S., Recuenco-Munoz, L., Pietzke, M., Schwemmer, T., Rupprecht, J., Egelhofer, V., & Weckwerth, W. (2010). Targeted proteomics for Chlamydomonas reinhardtii combined with rapid subcellular protein fractionation, metabolomics and metabolic flux analyses. Molecular Biosystems, 6 (6), 1018-31. doi:10.1039/b920913a ![]() |
![]() ![]() | Schudoma, C., MAY, P., Nikiforova, V., & Walther, D. (2010). Sequence-structure relationships in RNA loops: establishing the basis for loop homology modeling. Nucleic Acids Research, 38 (3), 970-80. doi:10.1093/nar/gkp1010 ![]() |
![]() ![]() | Nikoloski, Z., MAY, P., & Selbig, J. (2010). Algebraic connectivity may explain the evolution of gene regulatory networks. Journal of Theoretical Biology, 267 (1), 7-14. doi:10.1016/j.jtbi.2010.07.028 ![]() |
![]() ![]() | MAY, P., Kreuchwig, A., Steinke, T., & Koch, I. (2010). PTGL: a database for secondary structure-based protein topologies. Nucleic Acids Research, 38 (Database issue), 326-30. doi:10.1093/nar/gkp980 ![]() |
![]() ![]() | Schudoma, C., MAY, P., & Walther, D. (2010). Modeling RNA loops using sequence homology and geometric constraints. Bioinformatics, 26 (13), 1671-2. doi:10.1093/bioinformatics/btq236 ![]() |
![]() ![]() | Branscheid, A., Sieh, D., Pant, B. D., MAY, P., Devers, E. A., Elkrog, A., Schauser, L., Scheible, W.-R., & Krajinski, F. (2010). Expression pattern suggests a role of MiR399 in the regulation of the cellular response to local Pi increase during arbuscular mycorrhizal symbiosis. Molecular Plant-Microbe Interactions, 23 (7), 915-26. doi:10.1094/MPMI-23-7-0915 ![]() |
![]() ![]() | Pant, B. D.* , Musialak-Lange, M.* , Nuc, P.* , MAY, P.* , Buhtz, A., Kehr, J., Walther, D., & Scheible, W.-R. (2009). Identification of nutrient-responsive Arabidopsis and rapeseed microRNAs by comprehensive real-time polymerase chain reaction profiling and small RNA sequencing. Plant Physiology, 150 (3), 1541-55. doi:10.1104/pp.109.139139 ![]() * These authors have contributed equally to this work. |
![]() ![]() | CHRISTIAN, N., MAY, P., Kempa, S., Handorf, T., & Ebenhoh, O. (2009). An integrative approach towards completing genome-scale metabolic networks. Molecular Biosystems, 5 (12), 1889-903. doi:10.1039/B915913b ![]() |
![]() ![]() | Childs, L., Nikoloski, Z., MAY, P., & Walther, D. (2009). Identification and classification of ncRNA molecules using graph properties. Nucleic Acids Research, 37 (9), 66. doi:10.1093/nar/gkp206 ![]() |
![]() ![]() | Gunther, S., von Eichborn, J., MAY, P., & Preissner, R. (2009). JAIL: a structure-based interface library for macromolecules. Nucleic Acids Research, 37 (Database issue), 338-41. doi:10.1093/nar/gkn599 ![]() |
![]() ![]() | MAY, P., Christian, J.-O., Kempa, S., & Walther, D. (2009). ChlamyCyc: an integrative systems biology database and web-portal for Chlamydomonas reinhardtii. BMC Genomics, 10, 209. doi:10.1186/1471-2164-10-209 ![]() |
![]() ![]() | Nikoloski, Z., Grimbs, S., MAY, P., & Selbig, J. (2008). Metabolic networks are NP-hard to reconstruct. Journal of Theoretical Biology, 254 (4), 807-16. doi:10.1016/j.jtbi.2008.07.015 ![]() |
![]() ![]() | MAY, P.* , Wienkoop, S.* , Kempa, S.* , Usadel, B.* , CHRISTIAN, N.* , Rupprecht, J., Weiss, J., Recuenco-Munoz, L., Ebenhoh, O., Weckwerth, W., & Walther, D. (2008). Metabolomics- and proteomics-assisted genome annotation and analysis of the draft metabolic network of Chlamydomonas reinhardtii. Genetics, 179 (1), 157-66. doi:10.1534/genetics.108.088336 ![]() * These authors have contributed equally to this work. |
Gunther, S.* , MAY, P.* , Hoppe, A., Frommel, C., & Preissner, R. (2007). Docking without docking: ISEARCH--prediction of interactions using known interfaces. Proteins, 69 (4), 839-44. doi:10.1002/prot.21746 ![]() * These authors have contributed equally to this work. |
Kolbeck, B.* , MAY, P.* , Schmidt-Goenner, T., Steinke, T., & Knapp, E.-W. (2006). Connectivity independent protein-structure alignment: a hierarchical approach. BMC Bioinformatics, 7, 510. doi:10.1186/1471-2105-7-510 ![]() * These authors have contributed equally to this work. |
![]() ![]() | MAY, P., Barthel, S., & Koch, I. (2004). PTGL--a web-based database application for protein topologies. Bioinformatics, 20 (17), 3277-9. doi:10.1093/bioinformatics/bth367 ![]() |
![]() ![]() | KLEE, M., AHO, V., MAY, P., KRÜGER, R., WILMES, P., & LEIST, A. (2023). EDUCATION AS A RISK FACTOR OF MILD COGNITIVE IMPAIRMENT—THE ROLE OF THE GUT MICROBIOME. Innovation in Aging. doi:10.1093/geroni/igad104.0228 ![]() |
![]() ![]() | NEININGER, K., MAY, P., Altieri, B., Lippert, J. L., ROOMP, K., Dalmazi, G. D., Canu, L., Ceccato, F., Riester, A., Herterich, S. L., Fassnacht, M., SCHNEIDER, J., & Ronchi, C. L. (03 May 2021). Evaluation of the Molecular Pathogenesis of Adrenocortical Tumors by Whole-Genome Sequencing. Journal of the Endocrine Society, 5 (Issue Supplement_1), 68. doi:10.1210/jendso/bvab048.137 ![]() |
![]() ![]() | Iqbal, S., Jespersen, J. B., Perez-Palma, E., MAY, P., Palotie, A., Cottrell, J. R., Wagner, F. F., Daly, M. J., Campbell, A. J., & Lal, D. (15 February 2019). Functional Interpretation of Single Amino Acid Substitutions in 1,330 Disease-Associated Genes. Biophysical Journal, 116 (3), 420a-421. doi:10.1016/j.bpj.2018.11.2266 ![]() |
![]() ![]() | Iqbal, S., Berg Jespersen, J., Perez-Palma, E., MAY, P., Heyne, H., Lage, K., Steensbjerre Møller, R., Wagner, F. F., Daly, M., Campbell, A. J., & Lal, D. (02 February 2018). Identification and Characterization of Variant Intolerant Sites across Human Protein 3-Dimensional Structures. Biophysical Journal, 114 (3, Suppl. 1), 664. doi:10.1016/j.bpj.2017.11.3583 ![]() |
![]() ![]() | Neupert, L.-M., MAY, P., Kobow, K., Nothnagel, M., Nürnberg, P., Freiman, T., Harter, P., Klein, K.-M., Weber, Y., Blümcke, I., & Lal, D. (08 December 2017). Discovery and pathogenicity assessment of neuropathology-associated gene variants. Epilepsia, 58 (Suppl.5), 174. doi:10.1111/epi.13944 ![]() |
![]() ![]() | KUTZERA, J., & MAY, P. (2017). Variant-DB: A Tool for Efficiently Exploring Millions of Human Genetic Variants and Their Annotations. In M. Da Silveira, C. Pruski, ... R. SCHNEIDER, DILS 2017: Data Integration in the Life Sciences (pp. 22-28). Springer. doi:10.1007/978-3-319-69751-2_3 ![]() |
![]() ![]() | Scalais, E., de Meurichy, A., Amrom, A., De Meirleir, L., Lederer, D., MAY, P., Jansens, A., Stouffs, K., Caberg, J., Löfgren, A., Van Houwe, J., Stambacher H, & Van Rijckevorsel, K. (October 2017). Early Onset Epileptic Encephalopathy: Genetic Analysis and Further Delineation of Genotype-phenotype Correlation. Annals of Neurology, 82 (SI), 295-296. doi:10.1002/ana.25022 ![]() |
![]() ![]() | BOBBILI, D. R., MAY, P., & KRÜGER, R. (02 June 2017). Rare variant analysis of the PPMI dataset to uncover the complex genetic architecture of Parkinson’s disease. Movement Disorders, 322 (Supplement S2), 405. doi:10.1002/mds.27087 ![]() |
![]() ![]() | Hartl, D., MAY, P., GU, W., Mayhaus, M., GLAAB, E., ANTONY, P., BOBBILI, D. R., Köglsberger, S., Pichler, S., Spaniol, C., Kurz, A., BALLING, R., SCHNEIDER, J., & Riemenschneider, M. (2017). IDENTIFICATION OF A RARE GENE VARIANT THAT IS ASSOCIATED WITH FAMILIAL ALZHEIMER DISEASE AND REGULATES APP EXPRESSION. Alzheimer's and Dementia: the Journal of the Alzheimer's Association, 13 (7, Supplement), 648. doi:10.1016/j.jalz.2017.06.758 ![]() |
Reinsbach, S., WIENECKE, A., GINOLHAC, A., Vallar, L., Krishna, Krishna, A., Nazarov, P., MAY, P., & KREIS, S. (2016). “Melanomics”: analysis and integration of whole genomes, transcriptomes and miRNomes of primary melanoma patients. European Journal of Cancer, 61 (Suppl.1), 32. doi:10.1016/S0959-8049(16)61101-2 |
![]() ![]() | BIRYUKOV, M., ANTONY, P., KRISHNA, A., MAY, P., & TREFOIS, C. (2015). Evaluation of Cell Line Suitability for Disease Specific Perturbation Experiments. In B. Lausen, S. KROLAK-SCHWERDT, ... M. Böhmer (Eds.), Data Science, Learning by Latent Structures, and Knowledge Discovery. Luxembourg, Luxembourg: Springer. doi:10.1007/978-3-662-44983-7_26 ![]() |
![]() ![]() | Schäfer, T., MAY, P., & Koch, I. (2012). Computation and Visualization of Protein Topology Graphs Including Ligand Information. In S. Böcker, F. Hufsky, K. Scheubert, J. Schleicher, ... S. Schuster (Eds.), German Conference on Bioinformatics 2012 (pp. 108--118). Dagstuhl, Germany: Schloss Dagstuhl--Leibniz-Zentrum fuer Informatik. doi:10.4230/OASIcs.GCB.2012.108 ![]() |
MAY, P., Klau, G. W., Bauer, M., & Steinke, T. (2007). Accelerated microRNA-Precursor Detection Using the Smith-Waterman Algorithm on FPGAs. In W. Dubitzky, A. Schuster, P. A. Sloot, M. Schroeder, ... M. Romberg (Eds.), Distributed, High-Performance and Grid Computing in Computational Biology (pp. 19-32). Berlin, Heidelberg, Germany: Springer Berlin Heidelberg. doi:10.1007/978-3-540-69968-2_3 ![]() |
MAY, P., Ehrlich, H.-C., & Steinke, T. (2006). ZIB Structure Prediction Pipeline: Composing a Complex Biological Workflow through Web Services. In W. E. Nagel, W. V. Walter, ... W. Lehner (Eds.), Euro-Par 2006 Parallel Processing (pp. 1148--1158). Springer. doi:10.1007/11823285_121 ![]() |
KLEE, M., AHO, V., MAY, P., Heintz-Buschart, A., LANDOULSI, Z., JONSDOTTIR, S., PAULY, C., PAVELKA, L., DELACOUR, L., KAYSEN, A., KRÜGER, R., WILMES, P., LEIST, A., & NCER-PD Consortium. (November 2023). Education as risk factor of Mild Cognitive Impairment - the role of the gut microbiome. Presentation in symposium: Social determinants of brain health: From the search for mechanisms to recommendations to increase equity [Paper presentation]. Annual Meeting of the Gerontological Society of America. |
KLEE, M., AHO, V., MAY, P., Heintz-Buschart, A., LANDOULSI, Z., JONSDOTTIR, S., PAULY, C., PAVELKA, L., DELACOUR, L., KAYSEN, A., KRÜGER, R., WILMES, P., LEIST, A., & NCER-PD Consortium, (Other coll.). (July 2023). Education as risk factor of Mild Cognitive Impairment - the role of the gut microbiome [Poster presentation]. Alzheimer’s Association (AAIC) Conference. |
KLEE, M., AHO, V., MAY, P., KRÜGER, R., WILMES, P., LEIST, A., & NCER-PD Consortium (Other coll.). (January 2023). Education as risk factor of Mild Cognitive Impairment - the role of the gut microbiome [Poster presentation]. Conference Precision Medicine in Parkinson’s: Past lessons and conquering new frontiers. |
![]() ![]() | MARTINEZ ARBAS, S., Narayanasamy, S., HEROLD, M., LEBRUN, L., Hicks, N. D., Price, L. B., Gillece, J. D., Schupp, J. M., Lam, T., LACZNY, C. C., Ye, Y., Keim, P. S., Muller, E. E. L., MAY, P., & WILMES, P. (19 October 2018). Critical transitions in microbial communities: mobile genetic elements as drivers of the microbial community dynamics within activated sludge of wastewater treatment [Poster presentation]. PhD days 2018, Belval, Luxembourg. |
![]() ![]() | MARTINEZ ARBAS, S., Narayanasamy, S., Herold, M., LEBRUN, L., Hicks, N. D., Price, L. B., Gillece, J. D., Schupp, J. M., LACZNY, C. C., Keim, P. S., Muller, E. E. L., MAY, P., & WILMES, P. (11 September 2018). A multi-omic view of invasive genetic elements and their linked prokaryotic population dynamics within a mixed microbial community [Poster presentation]. ECCB Athens, Athens, Greece. |
![]() ![]() | HEROLD, M., NARAYANASAMY, S., MARTINEZ ARBAS, S., MULLER, E., KLEINE-BORGMANN, A. L., LEBRUN, L., ROUME, H., SHEIK, A., Bessarab, I., Williams, R., Gillece, J., Schupp, J., Keim, P., Jäger, C., Hoopmann, M., Li, S., Tang, H., HEINTZ, A., MAY, P., ... WILMES, P. (August 2018). Integrated time-resolved multi-omics for understanding microbial niche ecology [Poster presentation]. 17th International Symposium on Microbial Ecology, Leipzig, Germany. |
![]() ![]() | TREZZI, J.-P., HEINTZ, A., MULLER, E., NARAYANASAMY, S., JAROSZ, Y., HEROLD, M., KAYSEN, A., LACZNY, C. C., MAY, P., & WILMES, P. (August 2018). Microbiome-derived Multi-omicBiomarkers for Early-stage Detection and Stratification of Parkinson's Disease [Poster presentation]. 17th International Symposium on Microbial Ecology. |
![]() ![]() | MARTINEZ ARBAS, S., Narayanasamy, S., HEROLD, M., MAY, P., & WILMES, P. (21 July 2017). Comparative integrated-omic analyses of phage-host interactions within natural and engineered microbial communities [Poster presentation]. ISCB student council symposium, Prague, Czechia. |
KAYSEN, A., BUSCHART, A., MAY, P., LACZNY, C. C., NARAYANASAMY, S., Graf, N., Simon, A., Bittenbring, J., KREIS, S., SCHNEIDER, J., & WILMES, P. (June 2015). Dynamic change of host gastrointestinal microbiome and immune status in relation to mucosal barrier effects during chemotherapy and immune ablative intervention in humans [Poster presentation]. The Human Microbiome, Heidelberg, Germany. |
BUSCHART, A., MAY, P., LACZNY, C. C., LEBRUN, L., WAMPACH, L., Hogan, A., SCHNEIDER, J., DE BEAUFORT, C., & WILMES, P. (March 2015). Integrated omics analyses of the human gut microbiome in a multiplex family study of type 1 diabetes mellitus [Poster presentation]. 5th International Human Microbiome Congress, Luxembourg-City, Luxembourg. |
HEINTZ, A., MAY, P., LACZNY, C. C., LEBRUN, L., WAMPACH, L., Hogan, A., SCHNEIDER, J., WILMES, P., & DE BEAUFORT, C. (30 April 2014). Integrated Omic Analyses of the Human Gut Microbiome in a Multiplex Family Study of Type 1 Diabetes Mellitus [Poster presentation]. EMBO|EMBL Symposium: Translating Diabetes. |
![]() ![]() | LACZNY, C. C., MAY, P., VLASSIS, N., & WILMES, P. (March 2014). Identification of condition-specific microbial populations from human metagenomic data [Poster presentation]. VizBi - Visualizing biological data 2014, Heidelberg, Germany. |
MULLER, E., Pinel, N., LACZNY, C. C., Hoopmann, M., LEBRUN, L., ROUME, H., MAY, P., Hicks, N., Liu, C., Price, L., Gillece, J., Guignard, C., Schupp, J., VLASSIS, N., Moritz, R., Baliga, N., Keim, P., & WILMES, P. (2014). Community integrated omics links the dominance of a microbial generalist to fine-tuned resource usage [Paper presentation]. 15th International Symposium on Microbial Ecology. |
MULLER, E., Pinel, N., LACZNY, C. C., Hoopmann, M., LEBRUN, L., ROUME, H., MAY, P., Hicks, N., Liu, C., Price, L., Gillece, J., Guignard, C., Schupp, J., VLASSIS, N., Moritz, R., Baliga, N., Keim, P., & WILMES, P. (2014). Community integrated omics links the dominance of a microbial generalist to fine-tuned resource usage [Poster presentation]. Phenotypic heterogeneity and sociobiology of bacterial populations. |
HEINTZ, A., MAY, P., LEBRUN, L., Ferrand, J., TREZZI, J.-P., Collignon, S., WAMPACH, L., GLAAB, E., LACZNY, C. C., MARTINS CONDE, P., KAYSEN, A., SCHNEIDER, J., HILLER, K., Hogan, A., WILMES, P., & DE BEAUFORT, C. (October 2013). Meta-omic Analyses of the Microbiome in a Family Study of Diabetes Mellitus [Poster presentation]. 2nd International Systems Biomedicine Symposium, Belval, Luxembourg. |
DILIMULATI, Y., HEINTZ, A., GHOSAL, A., UPADHYAYA, B. B., FRITZ, J., LACZNY, C. C., MAY, P., MULLER, E., SHAH, P., DESAI, M., ROUME, H., Huang, D., Wang, K., GALAS, D. J., & WILMES, P. (October 2013). The exogenous RNA spectrum in human plasma and the gastrointestinal tract [Poster presentation]. 2nd International Systems Biomedicine Symposium, Belval, Luxembourg. |
ANTONY, P., KRISHNA, A., MAY, P., TREFOIS, C., BOYD, O., Köglsberger, S., BAUMURATOV, A., GALAS, D. J., & BALLING, R. (2013). Differentiated SH-SY5Y Cells as PD Model for Mitochondrial Dysfunction: From Whole Genome Sequencing to an Educated Design of High-Throughput Experiments [Poster presentation]. The 11th International Conference on Alzheimer's & Parkinson's Diseases, Florence, Italy. |
MULLER, E., Pinel, N., MAY, P., ROUME, H., & WILMES, P. (2013). Linking mixed microbial community phenotype to individual genotypes [Poster presentation]. 14th International Symposium on Microbial Ecology. |
MULLER, E., Pinel, N., MAY, P., HUSSONG, R., ROUME, H., LEBRUN, L., liu, C., Aziz, M., Price, L., Moritz, R., Schupp, J., Keim, P., & WILMES, P. (2013). Systematic molecular measurements reveal key microbial populations driving community-wide phenotype [Poster presentation]. 12th Symposium on Bacterial Genetics and Ecology (BAGECO). |
ROUME, H., SATAGOPAM, V., MULLER, E., MAY, P., HUSSONG, R., & WILMES, P. (2013). Integrated omics highlights keystone genes in community-wide metabolic networks [Poster presentation]. 2013 International Conference on Genomics in Europe. |
ROUME, H., SATAGOPAM, V., MULLER, E., MAY, P., HUSSONG, R., & WILMES, P. (2013). Integrated omics highlights keystone genes in community-wide metabolic networks [Poster presentation]. 5th congress of European Microbiologists (FEMS). |
MULLER, E., ROUME, H., BUSCHART, A., Pinel, N., LACZNY, C. C., SATAGOPAM, V., MAY, P., LEBRUN, L., & WILMES, P. (2013). A model microbial community for Eco-Systems Biology [Poster presentation]. 2nd International Systems Biomedicine Symposium. |
Christian, J.-O., MAY, P., Kempa, S., & Walther, D. (2009). ChlamyCyc--a comprehensive database and web-portal centered on Chlamydomonas reinhardtii [Poster presentation]. 3rd International Biocuration Conference. doi:10.1038/npre.2009.3108.1 |
HABIER, J., MAY, P., Heintz-Buschart, A., Ghosal, A., WIENECKE-BALDACCHINO, A., Nolte-'t Hoen, E. N. M., WILMES, P., & FRITZ, J. (2018). Extraction and Analysis of RNA Isolated from Pure Bacteria-Derived Outer Membrane Vesicles. In V. Arluison & C. V. Valverde, Bacterial Regulatory RNA (Methods in Molecular Biology, pp. 213-230). New York, United States: Humana Press. doi:10.1007/978-1-4939-7634-8_13 ![]() |
![]() ![]() | 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 ![]() |