![]() ![]() | 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 ![]() |
![]() ![]() | 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. |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | ARENA, G., LANDOULSI, Z., Grossmann, D., Vitali, A., DELCAMBRE, S., BARON, A., ANTONY, P., BOUSSAAD, I., BOBBILI, D. R., Sreelatha, A. A. K., PAVELKA, L., Klein, C., Seibler, P., GLAAB, E., Sharma, M., KRÜGER, R., MAY, P., & GRÜNEWALD, A. (2023). Polygenic risk scores validated in patient-derived cells stratify for mitochondrial subtypes of Parkinson\textquoterights disease 2023.05.12.23289877. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/55367. doi:10.1101/2023.05.12.23289877 |
![]() ![]() | PEIRIS, S., LANDOULSI, Z., PAVELKA, L., Schulte, C., Buena-Atienza, E., Gross, C., Hauser, A.-K., BOBBILI, D. R., Casadei, N., MAY, P., KRÜGER, R., & Consortium, T. N.-P. (2023). Accurate long-read sequencing identified GBA variants as a major genetic risk factor in the Luxembourg Parkinson\textquoterights study 2023.03.29.23287880. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/55244. doi:10.1101/2023.03.29.23287880 |
![]() ![]() | 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 ![]() |
![]() ![]() | HASSANIN, E. S. F. S., Maj, C., Krawitz, P., MAY, P., & BOBBILI, D. R. (2023). Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history 2023.03.20.23287470. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/55242. doi:10.1101/2023.03.20.23287470 |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Hassanin, E., 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. (2022). Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence 2022.01.20.22269585. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/50410. doi:10.1101/2022.01.20.22269585 |
![]() ![]() | 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 ![]() |
![]() ![]() | Campbell, C., McCormack, M., Patel, S., Stapleton, C., BOBBILI, D. R., KRAUSE, R., Depondt, C., Sills, G. J., Koeleman, B. P., Striano, P., Zara, F., Sander, J. W., Lerche, H., Kunz, W. S., Stefansson, K., Stefansson, H., Doherty, C. P., Heinzen, E. L., Scheffer, I. E., ... Cavalleri, G. L. (2022). A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. Epilepsia, 63 (6), 1563-1570. doi:10.1111/epi.17228 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | Hassanin, E., MAY, P., Aldisi, R., Krawitz, P., Maj, C., & BOBBILI, D. R. (2021). Assessing the role of polygenic background on the penetrance of monogenic forms in Parkinson\textquoterights disease. 2021.06.06.21253270. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/47448. doi:10.1101/2021.06.06.21253270 |
![]() ![]() | Hassanin, E., MAY, P., Aldisi, R., Spier, I., Forstner, A. J., Nothen, M. M., Aretz, S., Krawitz, P., BOBBILI, D. R., & Maj, C. (2021). Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history 2021.06.04.21258277. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/47445. doi:10.1101/2021.06.04.21258277 |
![]() ![]() | 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. |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | BOBBILI, D. R. (2018). UNRAVELING THE COMPLEX GENETICS OF NEUROLOGICAL DISORDERS [Doctoral thesis, University du Luxembourg]. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/35577 |
![]() ![]() | 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. |
![]() ![]() | 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. |
![]() ![]() | 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 ![]() |
![]() ![]() | 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 ![]() |
![]() ![]() | ALEX NAMASIVAYAM, A., Morales, A. F., Lacave, A. M. F., Tallam, A., Simovic, B., Alfaro, D. G., BOBBILI, D. R., Martin, F., ANDROSOVA, G., Shvydchenko, I., Park, J., Calvo, J. V., Hoeng, J., Peitsch, M. C., Racero, M. G. V., BIRYUKOV, M., Talikka, M., Perez, M. B., Rohatgi, N., ... Xiang, Y. (2016). Community-Reviewed Biological Network Models for Toxicology and Drug Discovery Applications. Gene Regulation and Systems Biology, 10, 51-66. doi:10.4137/GRSB.S39076 ![]() |