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 Peer Reviewed verified by ORBi * 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 Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi |
Stevelink, R., Campbell, C., Chen, S., Abou-Khalil, B., Adesoji, O. M., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D. M., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M. D., Balagura, G., Balestrini, S., Barba, C., Barboza, K., ... Epilepsies, I. L. A. E. C. O. C. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics. doi:10.1038/s41588-023-01485-w Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi |
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 Peer reviewed |
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 Peer reviewed |
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 Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi |
Campbell, C., McCormack, M., Patel, S., Stapleton, C., Bobbili, D. R., Krause, R., Depondt, C., Sills, G. J., Koeleman, B. P., Striano, P., Zara, F., Sander, J. W., Lerche, H., Kunz, W. S., Stefansson, K., Stefansson, H., Doherty, C. P., Heinzen, E. L., Scheffer, I. E., ... Cavalleri, G. L. (2022). A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. Epilepsia, 63 (6), 1563-1570. doi:10.1111/epi.17228 Peer Reviewed verified by ORBi |
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 Peer reviewed |
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 Peer Reviewed verified by ORBi |
Koko, M., Krause, R., Sander, T., Bobbili, D. R., Nothnagel, M., May, P., Lerche, H., & Epi25 Collaborative. (24 September 2021). Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine, 72, 103588. doi:10.1016/j.ebiom.2021.103588 Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi * 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 Peer Reviewed verified by ORBi |
Jabbari, K., Bobbili, D. R., Lal, D., Reinthaler, E. M., Schubert, J., Wolking, S., Sinha, V., Motameny, S., Thiele, H., Kawalla, A., Altmüller, J., Toliat, M. R., Kraaij, R., van Rooij, J., Uitterlinden, A. G., Ikram, M. A., EuroEPINOMICS CoGIE Consortium, Balling, R., Zara, F., ... Nürnberg, P. (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS ONE. doi:10.1371/journal.pone.0202022 Peer Reviewed verified by ORBi |
May, P., Girard, S., Harrer, M., Bobbili, D. R., Schubert, J., Wolking, S., Becker, F., Lachance-Touchette, P., Meloche, C., Gravel, M., Niturad, C. E., Knaus, J., De Kovel, C., Toliat, M., Polvi, A., Iacomino, M., Guerrero-López, R., Baulac, S., Marini, C., ... Lerche, H. (18 August 2018). Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. The Lancet Neurology, 17 (8), 699-708. doi:10.1016/S1474-4422(18)30215-1 Peer Reviewed verified by ORBi |
Bobbili, D. R. (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 Peer Reviewed verified by ORBi * 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 Peer Reviewed verified by ORBi |
Bobbili, D. R.* , Lal, D.* , May, P.* , Reinthaler, E. M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., EuroEPINOMICS COGIE Consortium, Balling, R., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., & Neubauer, B. A. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy. European Journal of Human Genetics. doi:10.1038/s41431-017-0034-x Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
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 Peer Reviewed verified by ORBi |
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 Peer Reviewed verified by ORBi |
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 Peer reviewed |
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 Peer Reviewed verified by ORBi |