Profil

BALLING Rudolf

Main Referenced Co-authors
MAY, Patrick  (30)
ANTONY, Paul  (20)
KRAUSE, Roland  (17)
GLAAB, Enrico  (16)
Hrabe de Angelis, M. (16)
Main Referenced Keywords
Animals (110); Mice (88); Humans (34); Female (33); Male (31);
Main Referenced Unit & Research Centers
Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) (62)
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) (35)
ULHPC - University of Luxembourg: High Performance Computing (14)
Luxembourg Centre for Systems Biomedicine (LCSB): Biomedical Data Science (Glaab Group) (8)
Luxembourg Centre for Systems Biomedicine (LCSB): Computational Biology (Del Sol Group) (4)
Main Referenced Disciplines
Genetics & genetic processes (165)
Human health sciences: Multidisciplinary, general & others (31)
Life sciences: Multidisciplinary, general & others (27)
Biochemistry, biophysics & molecular biology (23)
Neurology (15)

Publications (total 253)

The most downloaded
4371 downloads
Ballereau, S., Glaab, E., Kolodkin, A., Chaiboonchoe, A., Biryukov, M., Vlassis, N., Ahmed, H., Pellet, J., Baliga, N., Hood, L., Schneider, R., Balling, R., & Auffray, C. (2013). Functional Genomics, Proteomics, Metabolomics and Bioinformatics for Systems Biology. In A. Prokop & B. Csukás (Eds.), Systems Biology: Integrative Biology and Simulation Tools. Springer. doi:10.1007/978-94-007-6803-1_1 https://hdl.handle.net/10993/1247

The most cited

696 citations (Scopus®)

Peters, H., Neubuser, A., Kratochwil, K., & Balling, R. (1998). Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes and Development, 12 (17), 2735-47. doi:10.1101/gad.12.17.2735 https://hdl.handle.net/10993/1314

Garcia, P., Wemheuer, W., Uriarte, O., Michelucci, A., Masuch, A., Brioschi, S., Weihofen, A., Koncina, E., Coowar, D., Heurtaux, T., Glaab, E., Balling, R., Sousa, C., Kaoma, T., Nicot, N., Pfander, T., Schulz-Schaeffer, W., Allouche, A., Fischer, N., ... Buttini, M. (2022). Neurodegeneration and neuroinflammation are linked, but independent of a-synuclein inclusions, in a seeding/spreading mouse model of Parkinson's disease. Glia. doi:10.1002/glia.24149
Peer Reviewed verified by ORBi

Krüger, R., Kern, F., Fehlmann, T., Violich, I., Hutchins, E., Alsop, E., Kahraman, M., Grammes, N., Balling, R., Geffers, L., & Keller, A. (2021). Deep sequencing of sncRNAs reveals hallmarks and regulatory modules of the transcriptome during Parkinson’s disease progression. Nature Aging. doi:10.1038/s43587-021-00042-6
Peer Reviewed verified by ORBi

Priesemann, V., Balling, R., Bauer, S., Beutels, P., Valdez, A. C., Cuschieri, S., Czypionka, T., Dumpis, U., Glaab, E., Grill, E., Hotulainen, P., Iftekhar, E. N., Krutzinna, J., Lionis, C., Machado, H., Martins, C., McKee, M., Pavlakis, G. N., Perc, M., ... Willeit, P. (2021). The benefits of low COVID-19 incidence in Europe. The Lancet, 398 (10303), 838-839. doi:10.1016/S0140-6736(21)01808-0
Peer reviewed

Iftekhar, E. N., Priesemann, V., Balling, R., Bauer, S., Beutels, P., Valdez, A. C., Cuschieri, S., Czypionka, T., Dumpis, U., Glaab, E., Grill, E., Hanson, C., Hotulainen, P., Klimek, P., Kretzschmar, M., Krüger, T., Krutzinna, J., Low, N., Machado, H., ... Willeit, P. (2021). A look into the future of the COVID-19 pandemic in Europe: an expert consultation. The Lancet Regional Health. Europe, 8 (100185). doi:10.1016/j.lanepe.2021.100185
Peer reviewed

Fehlmann, T., Lehallier, B., Schaum, N., Hahn, O., Kahraman, M., Li, Y., Grammes, N., Geffers, L., Backes, C., Balling, R., Kern, F., Krüger, R., Lammert, F., Ludwig, N., Meder, B., Fromm, B., Maetzler, W., Berg, D., Brockmann, K., ... Keller, A. (24 November 2020). Common diseases alter the physiological age-related blood microRNA profile. Nature Communications, 11 (1), 5958. doi:10.1038/s41467-020-19665-1
Peer Reviewed verified by ORBi

Zanin, M., Santos, B. F. R., Antony, P., Berenguer-Escuder, C., Larsen, S. B., Hanss, Z., Barbuti, P., Baumuratov, A., Grossmann, D., Capelle, C. M., Weber, J., Balling, R., Ollert, M., Krüger, R., Diederich, N. J., & He, F. (10 November 2020). Mitochondria interaction networks show altered topological patterns in Parkinson's disease. NPJ Systems Biology and Applications, 6 (1), 38. doi:10.1038/s41540-020-00156-4
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Kolodkin, A., Colangelo, A., Ignatenko, A., Martorana, F., Jennen, D., Briedé, J., Brady, N., Barberis, M., Mondeel, T., Papa, M., Kumar, V., Peters, B., Skupin, A., Alberghina, L., Balling, R., & Westerhoff, H. (2020). ROS networks: designs, aging, Parkinson's disease and precision therapies. NPJ Systems Biology and Applications. doi:10.1038/s41540-020-00150-w
Peer Reviewed verified by ORBi

Gui, Y., Thomas, M. H., Garcia, P., Karout, M., Halder, R., Michelucci, A., Kollmus, H., Zhou, C., Melmed, S., Schughart, K., Balling, R., Mittelbronn, M., Nadeau, J. H., Williams, R. W., Sauter, T., Buttini, M., & Sinkkonen, L. (2020). Pituitary Tumor Transforming Gene 1 Orchestrates Gene Regulatory Variation in Mouse Ventral Midbrain During Aging. Frontiers in Genetics. doi:10.3389/fgene.2020.566734
Peer Reviewed verified by ORBi

Stover, P., & Balling, R. (2020). Nutrition and the 2020 Pandemic. Annual Review Of Nutrition. doi:10.1146/annurev-nu-40-082120-100001
Peer reviewed

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.

Kern, F., Fehlmann, T., Violich, I., Alsop, E., Hutchins, E., Kahraman, M., Grammes, N. L., Guimarães, P., Backes, C., Poston, K., Casey, B., Balling, R., Geffers, L., Krüger, R., Galasko, D., Mollenhauer, B., Meese, E., Wyss-Coray, T., Craig, D. W., ... Keller, A. (2020). Deep sncRNA-seq of the PPMI cohort to study Parkinson’s disease progression. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/44658. doi:10.1101/2020.06.01.127092

Ostaszewski, M., Mazein, A., Gillespie, M., Kuperstein, I., Niarakis, A., Hermjakob, H., Pico, A., Willinghagen, E., Evelo, C., Hasenauer, J., Schreiber, F., Dräger, A., Demir, E., Wolkenhauer, O., Furlong, L., Barillot, E., Dopazo, J., Orta-Resendiz, A., Messina, F., ... Schneider, R. (2020). COVID-19 Disease Map, building a computational repository of SARS-CoV-2 virus-host interaction mechanisms. Scientific Data. doi:10.1038/s41597-020-0477-8
Peer reviewed

Fehlmann, T., Kahraman, M., Backes, C., Galata, V., Keller, V., Geffers, L., Mercaldo, N., Hornung, D., Keller, A., Krüger, R., & Balling, R. (2020). Evaluating the Use of Circulating MicroRNA Profiles for Lung Cancer Detection in Symptomatic Patients. JAMA Oncology. doi:10.1001/jamaoncol.2020.0001
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Kollmus, F., Fuchs, H., Lengger, C., Haselimashhadi, H., Bogue, M., Östereicher, M., Horsch, M., Aguilar-Pimentel, J., Amarie, O., Becker, L., Beckers, J., Calzada-Wack, J., Garrett, L., Hans, W., Hölter, S., Klein-Rodewald, T., Maier, H., Mayer-Kuckuk, P., Miller, G., ... Hrabě de Angelis, M. (2020). A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes. Mammalian Genome. doi:10.1007/s00335-020-09827-3
Peer reviewed

Aarestrup, F., Albeyatti, A., Armitage, W., Auffray, C., Augello, L., & Balling, R. (2020). Towards a European health research and innovation cloud (HRIC). Genome Medicine. doi:10.1186/s13073-020-0713-z
Peer reviewed

Krüger, R., Balling, R., Antony, P., Kondratyeva, O., Ostaszewski, M., Baumuratov, A., Grossmann, D., Mommaerts, K., Sokolowska, K., Longhino, L., Poulain, J. F., & Diederich, N. J. (2020). Fibroblast mitochondria in idiopathic Parkinson’s disease display morphological changes and enhanced resistance to depolarization. Scientific Reports. doi:10.1038/s41598-020-58505-6
Peer Reviewed verified by ORBi

Schymanski, E., Baker, N. C., Williams, A. J., Singh, R., Trezzi, J.-P., Kolber, P. L., Wilmes, P., Krüger, R., Paczia, N., Linster, C., & Balling, R. (2019). Connecting environmental exposure and neurodegeneration using cheminformatics and high resolution mass spectrometry: potential and challenges. Environmental Science. Processes and Impacts. doi:10.1039/C9EM00068B
Peer Reviewed verified by ORBi

Balling, R., & Stover, P. (2019). Addressing the Increased Expectations of Nutrition. Annual Review of Nutrition. doi:10.1146/annurev-nu-39-190619-100001
Peer Reviewed verified by ORBi

Balling, R., Goncalves, J., Magni, S., Mombaerts, L., Oldano, A., & Skupin, A. (2019). From Diagnosing Diseases to Predicting Diseases. In U. A. K. Betz (Ed.), Curious2018 (pp. 95-103). Springer, Cham. doi:10.1007/978-3-030-16061-6_11

Helbig, I., Lopez-Hernandez, T., Shor, O., Galer, P., Ganesan, S., Pendziwiat, M., Rademacher, A., Ellis, C. A., Humpfer, N., Schwarz, N., Seiffert, S., Peeden, J., Shen, J., Sterbova, K., Hammer, T. B., Moller, R. S., Shinde, D. N., Tang, S., Smith, L., ... GRIN consortium. (2019). A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. American Journal of Human Genetics. doi:10.1016/j.ajhg.2019.04.001
Peer Reviewed verified by ORBi

Overall, R., Balling, R., Kempermann, G., & Williams, R. (2019). Workshop Report: Systems Genetics of Neurodegenerative Disease, a Summer School in Systems Medicine, 25th August-1st September 2017. Frontiers In Genetics. doi:10.3389/fgene.2019.00029
Peer reviewed

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

Bohler, S., Krauskopf, J., Espín-Pérez, A., Gebel, S., Palli, D., Rantakokko, P., Kiviranta, H., Kyrtopoulos, S., Balling, R., & Kleinjans, J. (2019). Genes associated with Parkinson's disease respond to increasing polychlorinated biphenyl levels in the blood of healthy females. Environmental Pollution. doi:10.1016/j.envpol.2019.04.005
Peer reviewed

Salamanca, L., Mechawar, N., Murai, K. K., Balling, R., Bouvier, D., & Skupin, A. (2019). MIC-MAC: An automated pipeline for high-throughput characterization and classification of three-dimensional microglia morphologies in mouse and human postmortem brain samples. Glia. doi:10.1002/glia.23623
Peer reviewed

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
Peer Reviewed verified by ORBi

Berghuis, B., Stapleton, C., Sonsma, A., Hulst, J., de Haan, G., Lindhout, D., Demurtas, R., Balling, R., Schneider, R., EpiPGX Consortium, & Krause, R. (2019). A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. Epilepsia Open. doi:10.1002/epi4.12297
Peer reviewed

Keller, A., Fehlmann, T., Laufer, T., Backes, C., Kahramann, M., Alles, J., Fischer, U., Minet, M., Ludwig, N., Kern, F., Kehl, T., Galata, V., Dusterloh, A., Schrors, H., Kohlhaas, J., Bals, R., Huwer, H., Geffers, L., Krüger, R., ... Meese, E. (2018). Large-scale validation of miRNAs by disease association, evolutionary conservation and pathway activity. RNA Biology. doi:10.1080/15476286.2018.1559689
Peer Reviewed verified by ORBi

Hipp Epouse D'amico, G., Vaillant, M., Diederich, N. J., Roomp, K., Satagopam, V., Banda, P., Sandt, E., Mommaerts, K., Schmitz, S., Longhino, L., Schweicher, A., Hanff, A.-M., Nicolai, B., Kolber, P. L., Reiter, D., Pavelka, L., Binck, S., Pauly, C., Geffers, L., ... Krüger, R. (29 October 2018). The Luxembourg Parkinson’s Study: A Comprehensive Approach for Stratification and Early Diagnosis. Frontiers in Aging Neuroscience, 10, 326. doi:10.3389/fnagi.2018.00326
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Sousa, C., Golebiewska, A., Poovathingal, S. K., Kaoma, T., Pires-Afonso, Y., Martina, S., Coowar, D., Azuaje, F., Skupin, A., Balling, R., Biber, K., Niclou, S., & Michelucci, A. (2018). Single-cell transcriptomics reveals distinct inflammation-induced microglia signatures. EMBO Reports. doi:10.15252/embr.201846171
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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
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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. Lancet Neurology, 17 (8), 699-708. doi:10.1016/S1474-4422(18)30215-1
Peer Reviewed verified by ORBi

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.

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.

Barbosa-Silva, A., Bratfalean, D., Gu, W., Satagopam, V., Houston, P., Becnel, L. B., Eifes, S., Richard, F., Tielmann, A., Herzinger, S., Rege, K., Balling, R., Peeters, P., & Schneider, R. (2018). Presenting and Sharing Clinical Data using the eTRIKS Standards Master Tree for tranSMART. Bioinformatics, 809. doi:10.1093/bioinformatics/bty809
Peer reviewed

Ostaszewski, M., Gebel, S., Kuperstein, I., Mazein, A., Zinovyev, A., Dogrusoz, U., Hasenauer, J., Fleming, R. M., Le Novere, N., Gawron, P., Ligon, T., Niarakis, A., Nickerson, D., Weindl, D., Balling, R., Barillot, E., Auffray, C., & Schneider, R. (2018). Community-driven roadmap for integrated disease maps. Briefings in Bioinformatics. doi:10.1093/bib/bby024
Peer Reviewed verified by ORBi

Delhalle, S., Bode, S. F. N., Balling, R., Ollert, M., & He, F. Q. (2018). A roadmap towards personalized immunology. NPJ Systems Biology and Applications, 4, 9. doi:10.1038/s41540-017-0045-9
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Mazein, A., Ostaszewski, M., Kuperstein, I., Watterson, S., Le Novere, N., Lefaudeux, D., De Meulder, B., Pellet, J., Balaur, I., Saqi, M., Nogueira, M. M., He, F., Parton, A., Lemonnier, N., Gawron, P., Gebel, S., Hainaut, P., Ollert, M., Dogrusoz, U., ... Auffray, C. (2018). Systems medicine disease maps: community-driven comprehensive representation of disease mechanisms. NPJ Systems Biology and Applications, 4, 21. doi:10.1038/s41540-018-0059-y
Peer Reviewed verified by ORBi

Niturad, E. C., Lev, D., Kalscheuer, V. M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H. Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., ... Leshinsky-Silver, E. (01 November 2017). Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain: a Journal of Neurology, 140 (11), 2879-2894. doi:10.1093/brain/awx236
Peer Reviewed verified by ORBi

Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., EuroEPINOMICS CoGIE Consortium, May, P., Krause, R., Balling, R., Genetic Commission of Italian League Against Epilepsy (LICE), Moyanova, S., Ngomba, R. T., van Luijtellar, G., Battaglia, G., ... Nicoletti, F. (2017). Alterations in the α2δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies. Epilepsia. doi:10.1111/epi.13898
Peer Reviewed verified by ORBi

Oliveira, M., Balling, R., Smidt, M., & Fleming, R. M. (26 June 2017). Embryonic development of selectively vulnerable neurons in Parkinson’s disease. NPJ Parkinson's Disease, 3. doi:10.1038/s41531-017-0022-4
Peer reviewed

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
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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
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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
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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
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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
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Sagner, M., McNeil, A., Puska, P., Auffray, C., Price, N. D., Hood, L., Lavie, C. J., Han, Z.-G., Chen, Z., Brahmachari, S. K., McEwen, B. S., Soares, M. B., Balling, R., Epel, E., & Arena, R. (2017). The P4 Health Spectrum - A Predictive, Preventive, Personalized and Participatory Continuum for Promoting Healthspan. Progress in cardiovascular diseases, 59 (5), 506-521. doi:10.1016/j.pcad.2016.08.002
Peer reviewed

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

Gawron, P., Ostaszewski, M., Satagopam, V., Gebel, S., Mazein, A., Kuzma, M., Zorzan, S., McGee, F., Otjacques, B., Balling, R., & Schneider, R. (2016). MINERVA—a platform for visualization and curation of molecular interaction networks. NPJ Systems Biology and Applications. doi:10.1038/npjsba.2016.20
Peer Reviewed verified by ORBi

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
Peer reviewed

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
Peer Reviewed verified by ORBi

Lal, D., Reinthaler, E., Dejanovic, May, P., Thiele, H., Lehesjoki, A.-E., Schwarz, G., Riesch, E., Ikram, A., van Duijn, C., Uitterlinden, A., Steinböck, H., Gruber-Sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Balling, R., ... Neubauer, B. (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS ONE. doi:10.1371/journal.pone.0150426
Peer Reviewed verified by ORBi

Antony, P., Tallam, A., Perumal, T. M., Jäger, C., Fritz, J., Balling, R., del Sol Mesa, A., Michelucci, A., & Vallar, L. (2016). Gene Regulatory Network Inference of Immunoresponsive Gene 1 (IRG1) Identifies Interferon Regulatory Factor 1 (IRF1) as Its Transcriptional Regulator in Mammalian Macrophages. PLoS ONE. doi:10.1371/journal.pone.0149050
Peer Reviewed verified by ORBi

Leist, S. R., Pilzner, C., van den Brand, J. M. A., Dengler, L., Geffers, R., Kuiken, T., Balling, R., Kollmus, H., & Schughart, K. (2016). Influenza H3N2 infection of the collaborative cross founder strains reveals highly divergent host responses and identifies a unique phenotype in CAST/EiJ mice. BMC Genomics, 17 (1), 143. doi:10.1186/s12864-016-2483-y
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Auffray, C., Balling, R., Barroso, I., Bencze, L., Benson, M., Bergeron, J., Bernal-Delgado, E., Blomberg, N., Bock, C., Conesa, A., Del Signore, S., Delogne, C., Devilee, P., Di Meglio, A., Eijkemans, M., Flicek, P., Graf, N., Grimm, V., Guchelaar, H.-J., ... Zanetti, G. (2016). Making sense of big data in health research: Towards an EU action plan. Genome Medicine, 8 (1), 71. doi:10.1186/s13073-016-0323-y
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Satagopam, V., Gu, W., Eifes, S., Gawron, P., Ostaszewski, M., Gebel, S., Barbosa-Silva, A., Balling, R., & Schneider, R. (2016). Integration and Visualization of Translational Medicine Data for Better Understanding of Human Diseases. Big Data, 4 (2), 97-108. doi:10.1089/big.2015.0057
Peer reviewed

Maes, Nowak, G., Caso, J., Leza, J. C., Song, C., Kubera, M., Klein, H., Galecki, P., Noto, C., Glaab, E., Balling, R., & Berk, M. (2016). Toward Omics-Based, Systems Biomedicine, and Path and Drug Discovery Methodologies for Depression-Inflammation Research. Molecular Neurobiology, 53 (5), 2927-2935. doi:10.1007/s12035-015-9183-5
Peer reviewed

Antony, P., Forster, J., Köglsberger, S., Trefois, C., Boyd, O., Baumuratov, A., Balling, R., & Buck, L. (2016). Characterization of Differentiated SH-SY5Y as Neuronal Screening Model Reveals Increased Oxidative Vulnerability. Journal of Biomolecular Screening. doi:10.1177/1087057115625190
Peer Reviewed verified by ORBi

Ostaszewski, M., Skupin, A., & Balling, R. (2016). Neurological Diseases from a Systems Medicine Point of View. Methods in Molecular Biology, 1386, 221-50. doi:10.1007/978-1-4939-3283-2_11
Peer Reviewed verified by ORBi

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
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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
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Trefois, C., Antony, P., Goncalves, J., Skupin, A., & Balling, R. (August 2015). Critical transitions in chronic disease: transferring concepts from ecology to systems medicine. Current Opinion in Biotechnology, 34, 48-55. doi:10.1016/j.copbio.2014.11.020
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Antony, P., Antunes, L., Frasquilho, S., Ostaszewski, M., Weber, J., Longhino, L., Baumuratov, A., Derkinderen, P., Balling, R., & Diederich, N. (June 2015). Staining for unphosphorylated alpha-synuclein in the colon mucosa. No difference between patients with Parkinson's disease and healthy controls [Paper presentation]. 19th International Congress of Parkinson's Disease and Movement.

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
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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
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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
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Antony, P., Boyd, O., Trefois, C., Ammerlaan, W., Ostaszewski, M., Baumuratov, A. S., Longhino, L., Antunes, L., Koopman, W., Balling, R., & Diederich, N. J. (2015). Platelet mitochondrial membrane potential in Parkinson's disease. Annals of Clinical and Translational Neurology, 2 (1), 67-73. doi:10.1002/acn3.151
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Manolio, T. A., Abramowicz, M., Al-Mulla, F., Anderson, W., Balling, R., Berger, A. C., Bleyl, S., Chakravarti, A., Chantratita, W., Chisholm, R. L., Dissanayake, V. H. W., Dunn, M., Dzau, V. J., Han, B.-G., Hubbard, T., Kolbe, A., Korf, B., Kubo, M., Lasko, P., ... Ginsburg, G. S. (2015). Global implementation of genomic medicine: We are not alone. Science Translational Medicine, 7 (290), 290ps13. doi:10.1126/scitranslmed.aab0194
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Jäger, C.* , Glaab, E.* , Michelucci, A.* , Binz, T., Köglsberger, S., Garcia, P., Trezzi, J.-P., Ghelfi, J., Balling, R., & Buttini, M. (2015). The Mouse Brain Metabolome: Region-Specific Signatures and Response to Excitotoxic Neuronal Injury. American Journal of Pathology, 185 (6), 1699-1712. doi:10.1016/j.ajpath.2015.02.016
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* These authors have contributed equally to this work.

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
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

Kolodkin, A., Ignatenko, A., Sangar, V., Simeonidis, V., Peters, B., Westerhoff, H., Skupin, A., Yilmaz, N., Barberis, M., Mondeel, T., Price, N., Brady, N., & Balling, R. (December 2014). ROS homeostasis in a dynamic model: How to save PD neuron? [Poster presentation]. Benelux Bioinformatics conference, Luxembourg, Luxembourg.

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
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Kolodkin, A., Ignatenko, A., Sangar, V., Simeonidis, V., Glaab, E., Peters, B., Brady, N., Price, N., & Balling, R. (October 2014). ROS-management in Parkinson’s disease: Dynamic blue-print domino-based model and design principles study. Dynamic modelling of ROS management and ROS-induced mitophagy [Poster presentation]. GFG Neurogenetics Conference & PD Symposium, Munsbach, Luxembourg.

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
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Bodea, L.-G., Wang, Y., Linnartz-Gerlach, B., Kopatz, J., Sinkkonen, L., Musgrove, R., Kaoma, T., Muller, A., Vallar, L., Di Monte, D., Balling, R., & Neumann, H. (18 June 2014). Neurodegeneration by Activation of the Microglial Complement–Phagosome Pathway. Journal of Neuroscience, 34 (25), 8546-8556. doi:10.1523/JNEUROSCI.5002-13.2014
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Antony, P., Boyd, O., Trefois, C., Ostaszewski, M., Baumuratov, A., Balling, R., & Diederich, N. (12 June 2014). Analysis of mitochondrial membrane potential in idiopathic Parkinson's disease: A case-control study [Paper presentation]. 18th International Congress of Parkinson's Disease and Movement.

Antony, P., Ostaszewski, M., Gawron, P., Trefois, C., Fujita, K. A., Mosch, S., & Balling, R. (12 June 2014). Curation of complex molecular pathways of Parkinson's disease as a collaborative scientific community effort [Paper presentation]. 18th International Congress of Parkinson's Disease and Movement.

Kolodkin, A., Ignatenko, A., Sangar, V., Glaab, E., Peters, B., Price, N., Brady, N., & Balling, R. (June 2014). Dynamic modelling of ROS management and ROS-induced mitophagy [Poster presentation]. Gordon workshop on Cell Death Mechanisms, West Dover, United States.

Kolodkin, A., Ignatenko, A., Sangar, V., Simeonidis, V., Peters, B., Sahin, N., Price, N., Brady, N., Balling, R., & Westerhoff, H. (June 2014). ROS-activated signaling network: dynamic modelling and design principles study [Poster presentation]. Interdisciplinary Signalling Workshop, Vizegrad, Hungary.

Ignatenko, A., Kolodkin, A., Peters, B., & Balling, R. (2014). Comparison of ODE-based models for reactive oxygen species regulation system. Proceedings of ICCSA 2014, 199-203.
Peer reviewed

Nava, C., Dalle, C., Rastetter, A., Striano, P., de Kovel, C. G. F., Nabbout, R., Cancès, C., Ville, D., Brilstra, E. H., Gobbi, G., Raffo, E., Bouteiller, D., Marie, Y., Trouillard, O., Robbiano, A., Keren, B., Agher, D., Roze, E., Lesage, S., ... Zara, F. (Other coll.). (2014). De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nature Genetics. doi:10.1038/ng.2952
Peer reviewed

Fujita, K. A., Ostaszewski, M., Matsuoka, Y., Ghosh, S., Glaab, E., Trefois, C., Crespo, I., Perumal, T. M., Jurkowski, W., Antony, P., Diederich, N., Buttini, M., Kodama, A., Satagopam, V., Eifes, S., del Sol Mesa, A., Schneider, R., Kitano, H., & Balling, R. (2014). Integrating Pathways of Parkinson's Disease in a Molecular Interaction Map. Molecular Neurobiology. doi:10.1007/s12035-013-8489-4
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Bousquet, J., Jorgensen, C., Dauzat, M., Cesario, A., Camuzat, T., Bourret, R., Best, N., Anto, J. M., Abecassis, F., Aubas, P., Avignon, A., Badin, M., Bedbrook, A., Blain, H., Bourdin, A., Bringer, J., Camu, W., Cayla, G., Costa, D. J., ... Mercier, J. (2014). Systems medicine approaches for the definition of complex phenotypes in chronic diseases and ageing. From concept to implementation and policies. Current Pharmaceutical Design, 20 (38), 5928-44. doi:10.2174/1381612820666140314115505
Peer Reviewed verified by ORBi

Kolodkin, A., Ignatenko, A., Sangar, V., Simeonidis, V., Peters, B., Brady, N., Price, N., & Balling, R. (27 September 2013). Design principles study of ROS management and ROS-induced mitophagy with a kinetic model [Poster presentation]. 2013 BMES Annual Meeting, Seattle, United States.

Simeonidis, V., Kolodkin, A., Ignatenko, A., Sangar, V., Balling, R., & Brady, N. (22 July 2013). Modeling cellular ROS defense in mitochondrial-related diseases [Poster presentation]. 21st Annual International Conference on Intelligent Systemsfor Molecular Biology and 12th European Conference on Computational Biology, Berlin, Germany.

Antony, P., Diederich, N., Krüger, R., & Balling, R. (2013). The hallmarks of Parkinson's disease. FEBS Journal, 13. doi:10.1111/febs.12335
Peer reviewed

Kolodkin, A., Ignatenko, A., Simeonidis, V., Sangar, V., Choe, C., Peters, B., Price, N., Balling, R., & Brady, N. (May 2013). ROS-induced regulation of mitophagy and its failure in Parkinson’s disease [Poster presentation]. Mitochondria: from Signaling to Disease, Lisbon, Portugal.

Michelucci, A., Cordes, T., Ghelfi, J., Pailot, A., Reiling, N., Goldmann, O., Binz, T., Wegner, A., Tallam, A., Rausell, A., Buttini, M., Linster, C., Medina, E., Balling, R., & Hiller, K. (2013). Immune-responsive gene 1 protein links metabolism to immunity by catalyzing itaconic acid production. Proceedings of the National Academy of Sciences of the United States of America. doi:10.1073/pnas.1218599110
Peer Reviewed verified by ORBi

Ostaszewski, M., Fujita, K., Matsuoka, Y., Ghosh, S., Glaab, E., Trefois, C., Crespo, I., Perumal, T. M., Jurkowski, W., Antony, P., Diederich, N., Buttini, M., Kolodkin, A., Kodama, A., Satagopam, V., Biryukov, M., Eifes, S., del Sol Mesa, A., Schneider, R., ... Balling, R. (09 March 2013). The Parkinson's Disease Map: A Framework for Integration, Curation and Exploration of Disease-related Pathways [Poster presentation]. The 11th International Conference on Alzheimer's & Parkinson's Diseases, Florence, Italy.

Chaiboonchoe, A., Jurkowski, W., Pellet, J., Glaab, E., Kolodkin, A., Raussel, A., Le Béchec, A., Meyniel, L., Ballereau, S., Crespo, I., Ahmed, H., Volpert, V., Lotteau, V., Baliga, N., Hood, L., del Sol, A., Balling, R., & Auffray, C. (2013). Network analysis for systems biology. In A. Prokop & Csukás (Eds.), Springer book in Systems Biology, Vol.1: Systems Biology:, Integrative Biology and Simulation Tools (Springer book in Systems Biology, Vol.1). Springer. doi:10.1007/978-94-007-6803-1
Peer reviewed

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.

Ballereau, S., Glaab, E., Kolodkin, A., Chaiboonchoe, A., Biryukov, M., Vlassis, N., Ahmed, H., Pellet, J., Baliga, N., Hood, L., Schneider, R., Balling, R., & Auffray, C. (2013). Functional Genomics, Proteomics, Metabolomics and Bioinformatics for Systems Biology. In A. Prokop & B. Csukás (Eds.), Systems Biology: Integrative Biology and Simulation Tools. Springer. doi:10.1007/978-94-007-6803-1_1
Peer reviewed

Chaiboonchoe, A., Jurkowski, W., Pellet, J., Glaab, E., Kolodkin, A., Raussel, A., Le Béchec, A., Ballereau, S., Meyniel, L., Crespo, I., Ahmed, H., Volpert, V., Lotteau, V., Baliga, N., Hood, L., Sol, A. D., Balling, R., & Auffray, C. (2013). On different aspects of network analysis in systems biology. Systems Biology, 1, 181-207. doi:10.1007/978-94-007-6803-1_6
Peer reviewed

He, F., & Balling, R. (2013). The role of regulatory T cells in neurodegenerative diseases. Wiley Interdisciplinary Reviews. Systems Biology and Medicine, 5 (2), 153-80. doi:10.1002/wsbm.1187
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Schughart, K., Libert, C., Kas, M. J., Andreux, P., Aransay, A. M., Auwerx, J., Balling, R., Banerjee, S., Bezerianos, A., Bragonzi, A. D., Brockmann, G. A., Brown, S., Campbell-Tofte, J., Cendelin, J., Chatziioannou, A., Chen, D., Crusio, W., Dimitrakopoulou, K., Falcon, J. M., ... Zatloukal, K. (2013). Controlling complexity: the clinical relevance of mouse complex genetics. European Journal of Human Genetics, 21 (11), 1191-6. doi:10.1038/ejhg.2013.79
Peer Reviewed verified by ORBi

Georgatos, F., Ballereau, S., Pellet, J., Ghanem, M., Price, N., Hood, L., Guo, Y. K., Boutigny, D., Auffray, C., Balling, R., & Schneider, R. (2013). Computational infrastructures for data and knowledge management in systems biology. In A. Prokop & B. Csukás (Eds.), Systems Biology: Integrative Biology and Simulation Tools. Springer. doi:10.1007/978-94-007-6803-1_13
Peer reviewed

Kolodkin, A., Simeonidis, V., Brady, N., & Balling, R. (August 2012). A kinetic model and design principles study of cellular ROS defence and its failure in Parkinson’s disease [Poster presentation]. ICSB 2013 - 13th International Conference on Systems Biology, Toronto, Canada.

Trefois, C., Fujita, A. K., Ostaszewski, M., Matsuoka, Y., Ghosh, S., Glaab, E., Crespo, I., Perumal, T. M., Jurkowski, W., Antony, P., Diederich, N., Buttini, M., Kodama, A., Satagopam, V., Eifes, S., del Sol Mesa, A., Schneider, R., Kitano, H., & Balling, R. (August 2012). Constructing a comprehensive map of Parkinson’s disease to elucidate underlying mechanisms of its multifaceted molecular pathology [Poster presentation]. The 13th International Conference on Systems Biology.

Hood, L., Balling, R., & Auffray, C. (2012). Revolutionizing medicine in the 21(st) century through systems approaches. Biotechnology Journal, 7 (8), 937-1054. doi:10.1002/biot.201100306
Peer Reviewed verified by ORBi

Kolodkin, A., Boogerda, F. C., Plantb, N., Bruggemana, F. J., Goncharuke, V., Lunshofa, J., Moreno-Sanchezi, R., Yilmaza, N., Bakkerk, B. M., Snoepa, J. L., Balling, R., & Westerhoff, H. V. (2012). Emergence of the silicon human and network targeting drugs. European Journal of Pharmaceutical Sciences, 46 (4), 190-197. doi:10.1016/j.ejps.2011.06.006
Peer reviewed

Antony, P., Balling, R., & Vlassis, N. (2012). From Systems Biology to Systems Biomedicine. Current Opinion in Biotechnology, 23 (4), 604-8. doi:10.1016/j.copbio.2011.11.009
Peer Reviewed verified by ORBi

He, F., Chen, H., Probst-Kepper, M., Geffers, R., Eifes, S., Del Sol, A., Schughart, K., Zeng, A.-P., & Balling, R. (2012). PLAU inferred from a correlation network is critical for suppressor function of regulatory T cells. Molecular Systems Biology, 8, 624. doi:10.1038/msb.2012.56
Peer Reviewed verified by ORBi

Kolodkin, A., Simeonidis, E., Balling, R., & Westerhoff, H. V. (2012). Understanding complexity in neurodegenerative diseases: in silico reconstruction of emergence. Frontiers in Physiology, 3, 291. doi:10.3389/fphys.2012.00291
Peer Reviewed verified by ORBi

Trefois, C., Antony, P., Baumuratov, A., Boyd, O., Köglsberger, S., & Balling, R. (12 December 2011). Analysis of critical transitions in Parkinson's disease [Poster presentation]. BeNeLux Bioinformatics Conference, Luxembourg, Luxembourg.

Simeonidis, V., Roach, J., Brunkow, M., Glusman, G., Reynolds, S., Balling, R., Hood, L., Galas, D. J., Wichmann, H.-E., Grimm, S., & Gelinas, R. (July 2011). Candidate mutations for early-onset lung cancer by family genome sequencing [Poster presentation]. ISMB/ECCB 2011 - 19th Annual International Conference on Intelligent Systems for Molecular Biology and 10th European Conference on Computational Biology, Vienna, Austria.

Bousquet, J., Anto, J. M., Sterk, P. J., Adcock, I. M., Chung, K. F., Roca, J., Agusti, A., Brightling, C., Cambon-Thomsen, A., Cesario, A., Abdelhak, S., Antonarakis, S. E., Avignon, A., Ballabio, A., Baraldi, E., Baranov, A., Bieber, T., Bockaert, J., Brahmachari, S., ... Auffray, C. (2011). Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Medicine, 3 (7), 43-47. doi:10.1186/gm259
Peer Reviewed verified by ORBi

Abrahams, J. P., Apweiler, R., Balling, R., Bertero, M. G., Bujnicki, J. M., Chayen, N. E., Chène, P., Corthals, G. L., Dylag, T., Förster, F., Heck, A. J., Henderson, P. J., Herwig, R., Jehenson, P., Kokalj, S. J., Laue, E., Legrain, P., Martens, L., Migliorini, C., ... Taussig, M. J. (2011). 4D Biology for health and disease. New Biotechnology, 28 (4), 291-293. doi:10.1016/j.nbt.2010.10.003
Peer reviewed

Balling, R. (2011). Fighting the Diseases of the Future. In Our Common Future Conference Summary Report (pp. 63-65). Volkswagen Stiftung Germany.

Antony, P., Diederich, N., & Balling, R. (2011). Parkinson’s disease mouse models in translational research. Mammalian Genome, 22 (7-8), 401-19. doi:10.1007/s00335-011-9330-x
Peer Reviewed verified by ORBi

Morgan, H., Beck, T., Blake, A., Gates, H., Adams, N., Debouzy, G., Leblanc, S., Lengger, C., Maier, H., Melvin, D., Meziane, H., Richardson, D., Wells, S., White, J., Wood, J., Eumodic, C., Hrabé de Angelis, M., Hrabé de Angelis, M., Brown, S. D. M., ... Balling, R. (2010). EuroPhenome: a repository for high-throughput mouse phenotyping data. Nucleic Acids Research, 38 (1), 577-585. doi:10.1093/nar/gkp1007
Peer Reviewed verified by ORBi

Erben, R. G., Zeitz, U., Weber, K., Stierstorfer, B., Wolf, G., Schmahl, W., Balling, R., & Quintanilla-Martinez, L. (2010). A non-functioning vitamin D receptor predisposes to leukaemoid reactions in mice. Hematological Oncology, 28 (4), 185-191. doi:10.1002/hon.938
Peer reviewed

del Sol Mesa, A., Balling, R., Hood, L., & Galas, D. J. (2010). Diseases as network perturbations. Current Opinion in Biotechnology, 21 (4), 566-571. doi:10.1016/j.copbio.2010.07.010
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Balling, R., & Becker, R. (2010). EATRIS Infrastructure Accelerates Translation. BIOforum Europe, (1-2), 14-16.
Peer reviewed

Smedley, D., Schofield, P., Chen, C. K., Aidinis, V., Ainali, C., Bard, J., Balling, R., Birney, E., Blake, A., Bongcam-Rudloff, E., Brookes, A. J., Cesareni, G., Chandras, C., Eppig, J., Flicek, P., Gkoutos, G., Greenaway, S., Gruenberger, M., Heriche, J. K., ... Hancock, J. M. (2010). Finding and sharing: new approaches to registries of databases and services for the biomedical sciences. Database: The Journal of Biological Databases and Curation, Jul 6, 1758-0463. doi:10.1093/database/baq014
Peer Reviewed verified by ORBi

Probst-Kepper, M., Balling, R., & Buer, J. (2010). FOXP3: required but not sufficient. the role of GARP (LRRC32) as a safeguard of the regulatory phenotype. Current Molecular Medicine, 10 (6), 533-539. doi:10.2174/1566524011009060533
Peer Reviewed verified by ORBi

Phillips, R. A., & Balling, R. (2010). The bumpy road to personalized healthcare. European Biotechnology Science and Industry News, 9 (7-8).
Peer reviewed

Schughart, K., Arends, D., Andreux, P., Balling, R., Beyer, A., Bezerianos, A., Brockmann, G. A., Crusio, W. E., Campbell-Tofte, J., Denny, P., Falcon-Perez, J. M., Forejt, J., Franken, P., Hovatta, I., Iraqi, F., Jansen, R. C., Kaczmarek, L., Kas, M. J., Kashofer, K., ... Zatloukal, K. (2010). SYSGENET: a meeting report from a new European network for systems genetics. Mammalian Genome, 21 (7-8), 331-6. doi:10.1007/s00335-010-9273-7
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He, F., Balling, R., & Zeng, A.-P. (2009). Reverse engineering and verification of gene networks: principles, assumptions, and limitations of present methods and future perspectives. Journal of Biotechnology, 144 (3), 190-203. doi:10.1016/j.jbiotec.2009.07.013
Peer reviewed

Legrand, N., Ploss, A., Balling, R., Becker, P. D., Borsotti, C., Brezillon, N., Debarry, J., de Jong, Y., Deng, H., Di Santo, J. P., Eisenbarth, S., Eynon, E., Flavell, R. A., Guzman, C. A., Huntington, N. D., Kremsdorf, D., Manns, M. P., Manz, M. G., Mention, J.-J., ... Ziegler, P. (2009). Humanized mice for modeling human infectious disease: challenges, progress, and outlook. Cell Host and Microbe, 6 (1), 5-9. doi:10.1016/j.chom.2009.06.006
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Probst-Kepper, M., Geffers, R., Kröger, A., Viegas, N., Erck, C., Hecht, H. J., Lünsdorf, H., Roubin, R., Moharregh-Khiabani, D., Wagner, K., Ocklenburg, F., Jeron, A., Garritsen, H., Arstila, T. P., Kekäläinen, E., Balling, R., Hauser, H., Buer, J., & Weiss, S. (2009). GARP: a key receptor controlling FOXP3 in human regulatory T cells. Journal of Cellular and Molecular Medicine, 13 (9B), 3343-57. doi:10.1111/j.1582-4934.2009.00782.x
Peer reviewed

Altman, R. B., Balling, R., Brinkley, J. F., Coiera, E., Consorti, F., Dhansay, M. A., Geissbuhler, A., Hersh, W., Kwankam, S. Y., Lorenzi, N. M., Martin-Sanchez, F., Mihalas, G. I., Shahar, Y., Takabayashi, K., & Wiederhold, G. (2008). Commentaries on "Informatics and medicine: from molecules to populations". Methods of Information in Medicine, 47 (4), 296-317. doi:10.1055/s-0038-1627413
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He, F., Buer, J., Zeng, A.-P., & Balling, R. (2007). Dynamic cumulative activity of transcription factors as a mechanism of quantitative gene regulation. Genome Biology, 8 (9), 181. doi:10.1186/gb-2007-8-9-r181
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Kappen, C., Neubuser, A., Balling, R., & Finnell, R. (2007). Molecular basis for skeletal variation: insights from developmental genetic studies in mice. Birth Defects Research. Part B, Developmental and Reproductive Toxicology, 80 (6), 425-50. doi:10.1002/bdrb.20136
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Balling, R. (2007). Sudden and unexpected. Nature Genetics, 39 (12), 1422-3. doi:10.1038/ng1207-1422
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Balling, R. (2007). From mouse genetics to systems biology. Mammalian Genome, 18 (6-7), 383-8. doi:10.1007/s00335-007-9044-2
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Lengeling, A., Müller, W., & Balling, R. (2006). Phenotyping of host-pathogen interactions in mice. In Standards of Mouse Model Phenotyping. In M. Harbe de Angelis, P. Chambon, ... S. Brown (Eds.), Phenotyping of host-pathogen interactions in mice. In Standards of Mouse Model Phenotyping (pp. 201-219). Wiley-VCH, Weinheim.
Peer reviewed

Brown, S. D., Chambon, P., De Angelis, M. H., Eumorphia Consortium, & Balling, R. (Other coll.). (2005). EMPReSS: standardized phenotype screens for functional annotation of the mouse genome. Nature Genetics, (37), 1155. doi:10.1038/ng1105-1155
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Helming, L., Bose, J., Ehrchen, J., Schiebe, S., Frahm, T., Geffers, R., Probst-Kepper, M., Balling, R., & Lengeling, A. (2005). 1alpha,25-Dihydroxyvitamin D3 is a potent suppressor of interferon gamma-mediated macrophage activation. Blood, 106 (13), 4351-8. doi:10.1182/blood-2005-03-1029
Peer Reviewed verified by ORBi

Luckow, B., Joergensen, J., Chilla, S., Li, J.-P., Henger, A., Kiss, E., Wieczorek, G., Roth, L., Hartmann, N., Hoffmann, R., Kretzler, M., Nelson, P. J., Perez de Lema, G., Maier, H., Wurst, W., Balling, R., Pfeffer, K., Grone, H.-J., Schlondorff, D., & Zerwes, H.-G. (2004). Reduced intragraft mRNA expression of matrix metalloproteinases Mmp3, Mmp12, Mmp13 and Adam8, and diminished transplant arteriosclerosis in Ccr5-deficient mice. European Journal of Immunology, 34 (9), 2568-78. doi:10.1002/eji.200324776
Peer reviewed

Auwerx, J., Avner, P., Baldock, R., Ballabio, A., Balling, R., Barbacid, M., Berns, A., Bradley, A., Brown, S., Carmeliet, P., Chambon, P., Cox, R., Davidson, D., Davies, K., Duboule, D., Forejt, J., Granucci, F., Hastie, N., de Angelis, M. H., ... Wurst, W. (2004). The European dimension for the mouse genome mutagenesis program. Nature Genetics, 36 (9), 925-7. doi:10.1038/ng0904-925
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Wollscheid-Lengeling, E., Muller, R.-J., Balling, R., & Schughart, K. (2004). Maintaining your immune system--one method for enhanced longevity. Science of Aging Knowledge Environment, 2004 (1), 2. doi:10.1126/sageke.2004.1.pe2
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Buer, J., & Balling, R. (2003). Mice, microbes and models of infection. Nature Reviews. Genetics, 4 (3), 195-205. doi:10.1038/nrg1019
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Zeitz, U., Weber, K., Soegiarto, D. W., Wolf, E., Balling, R., & Erben, R. G. (2003). Impaired insulin secretory capacity in mice lacking a functional vitamin D receptor. FASEB Journal, 17 (3), 509-11. doi:10.1096/fj.02-0424fje
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Rodrigo, I., Hill, R. E., Balling, R., Munsterberg, A., & Imai, K. (2003). Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome. Development, 130 (3), 473-82. doi:10.1242/dev.00240
Peer reviewed

Rubio-Aliaga, I., Frey, I., Boll, M., Groneberg, D. A., Eichinger, H. M., Balling, R., & Daniel, H. (2003). Targeted disruption of the peptide transporter Pept2 gene in mice defines its physiological role in the kidney. Molecular and Cellular Biology, 23 (9), 3247-52. doi:10.1128/MCB.23.9.3247-3252.2003
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Hetzer-Egger, C., Schorpp, M., Haas-Assenbaum, A., Balling, R., Peters, H., & Boehm, T. (2002). Thymopoiesis requires Pax9 function in thymic epithelial cells. European Journal of Immunology, 32 (4), 1175-81. doi:10.1002/1521-4141(200204)32:4<1175::AID-IMMU1175>3.0.CO;2-U
Peer reviewed

Schulz, H., Johner, C., Eder, G., Ziesenis, A., Reitmeier, P., Heyder, J., & Balling, R. (2002). Respiratory mechanics in mice: strain and sex specific differences. Acta Physiologica Scandinavica, 174 (4), 367-75. doi:10.1046/j.1365-201x.2002.00955.x
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Jansen, W. T. M., Bolm, M., Balling, R., Chhatwal, G. S., & Schnabel, R. (2002). Hydrogen peroxide-mediated killing of Caenorhabditis elegans by Streptococcus pyogenes. Infection and Immunity, 70 (9), 5202-7. doi:10.1128/IAI.70.9.5202-5207.2002
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Vreugde, S., Erven, A., Kros, C. J., Marcotti, W., Fuchs, H., Kurima, K., Wilcox, E. R., Friedman, T. B., Griffith, A. J., Balling, R., Hrabe De Angelis, M., Avraham, K. B., & Steel, K. P. (2002). Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nature Genetics, 30 (3), 257-8. doi:10.1038/ng848
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Kist, R., Schrewe, H., Balling, R., & Scherer, G. (2002). Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. Genesis, 32 (2), 121-3. doi:10.1002/gene.10050
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Stoeger, T., Proetzel, G. E., Welzel, H., Papadimitriou, A., Dony, C., Balling, R., & Hofmann, C. (2002). In situ gene expression analysis during BMP2-induced ectopic bone formation in mice shows simultaneous endochondral and intramembranous ossification. Growth Factors, 20 (4), 197-210. doi:10.1080/0897719021000069579
Peer reviewed

Gerber, J.-K., Richter, T., Kremmer, E., Adamski, J., Hofler, H., Balling, R., & Peters, H. (2002). Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus. Journal of Pathology, 197 (3), 293-7. doi:10.1002/path.1115
Peer reviewed

Ernest, S., Christensen, B., Gilfix, B. M., Mamer, O. A., Hosack, A., Rodier, M., Colmenares, C., McGrath, J., Bale, A., Balling, R., Sankoff, D., Rosenblatt, D. S., & Nadeau, J. H. (2002). Genetic and molecular control of folate-homocysteine metabolism in mutant mice. Mammalian Genome, 13 (5), 259-67. doi:10.1007/s00335-001-3054-2
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Graw, J., Loster, J., Soewarto, D., Fuchs, H., Reis, A., Wolf, E., Balling, R., & Hrabe de Angelis, M. (2002). V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice. Mammalian Genome, 13 (8), 452-5. doi:10.1007/s00335-002-3021-6
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Erben, R. G., Soegiarto, D. W., Weber, K., Zeitz, U., Lieberherr, M., Gniadecki, R., Moller, G., Adamski, J., & Balling, R. (2002). Deletion of deoxyribonucleic acid binding domain of the vitamin D receptor abrogates genomic and nongenomic functions of vitamin D. Molecular Endocrinology, 16 (7), 1524-37. doi:10.1210/mend.16.7.0866
Peer reviewed

Kiernan, A. E., Ahituv, N., Fuchs, H., Balling, R., Avraham, K. B., Steel, K. P., & Hrabe de Angelis, M. (2001). The Notch ligand Jagged1 is required for inner ear sensory development. Proceedings of the National Academy of Sciences of the United States of America, 98 (7), 3873-8. doi:10.1073/pnas.071496998
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Graw, J., Klopp, N., Loster, J., Soewarto, D., Fuchs, H., Becker-Follmann, J., Reis, A., Wolf, E., Balling, R., & Habre de Angelis, M. (2001). Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts. Genetics, 157 (3), 1313-20.
Peer reviewed

Graw, J., Loster, J., Soewarto, D., Fuchs, H., Meyer, B., Reis, A., Wolf, E., Balling, R., & Hrabe de Angelis, M. (2001). Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract. Experimental Eye Research, 73 (6), 867-76. doi:10.1006/exer.2001.1096
Peer reviewed

Balling, R. (2001). ENU mutagenesis: analyzing gene function in mice. Annual Review of Genomics & Human Genetics, 2, 463-92. doi:10.1146/annurev.genom.2.1.463
Peer reviewed

Nadeau, J. H., Balling, R., Barsh, G., Beier, D., Brown, S. D., Bucan, M., Camper, S., Carlson, G., Copeland, N., Eppig, J., Fletcher, C., Frankel, W. N., Ganten, D., Goldowitz, D., Goodnow, C., Guenet, J. L., Hicks, G., Hrabe de Angelis, M., Jackson, I., ... Zimmer, A. D. (2001). Sequence interpretation. Functional annotation of mouse genome sequences. Science, 291 (5507), 1251-5. doi:10.1126/science.1058244
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Brown, S. D., & Balling, R. (2001). Systematic approaches to mouse mutagenesis. Current Opinion in Genetics and Development, 11 (3), 268-73. doi:10.1016/S0959-437X(00)00189-1
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Graw, J., Loster, J., Soewarto, D., Fuchs, H., Reis, A., Wolf, E., Balling, R., & Hrabe de Angelis, M. (2001). Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse. Investigative Ophthalmology and Visual Science, 42 (7), 1574-80.
Peer Reviewed verified by ORBi

Graw, J., Loster, J., Soewarto, D., Fuchs, H., Meyer, B., Reis, A., Wolf, E., Balling, R., & Hrabe de Angelis, M. (2001). Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. Investigative Ophthalmology and Visual Science, 42 (12), 2909-15.
Peer Reviewed verified by ORBi

Alessandrini, F., Jakob, T., Wolf, A., Wolf, E., Balling, R., Hrabe de Angelis, M., Ring, J., & Behrendt, H. (2001). Enu mouse mutagenesis: generation of mouse mutants with aberrant plasma IgE levels. International Archives of Allergy and Applied Immunology, 124 (1-3), 25-8. doi:10.1159/000053659
Peer reviewed

Lengeling, A., Pfeffer, K., & Balling, R. (2001). The battle of two genomes: genetics of bacterial host/pathogen interactions in mice. Mammalian Genome, 12 (4), 261-71. doi:10.1007/s003350040001
Peer Reviewed verified by ORBi

Santagati, F., Gerber, J. K., Blusch, J. H., Kokubu, C., Peters, H., Adamski, J., Werner, T., Balling, R., & Imai, K. (2001). Comparative analysis of the genomic organization of Pax9 and its conserved physical association with Nkx2-9 in the human, mouse, and pufferfish genomes. Mammalian Genome, 12 (3), 232-7. doi:10.1007/s003350010267
Peer Reviewed verified by ORBi

Hrabe de Angelis, M. H., Flaswinkel, H., Fuchs, H., Rathkolb, B., Soewarto, D., Marschall, S., Heffner, S., Pargent, W., Wuensch, K., Jung, M., Reis, A., Richter, T., Alessandrini, F., Jakob, T., Fuchs, E., Kolb, H., Kremmer, E., Schaeble, K., Rollinski, B., ... Balling, R. (2000). Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nature Genetics, 25 (4), 444-7. doi:10.1038/78146
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Faiella, A., Wernig, M., Consalez, G. G., Hostick, U., Hofmann, C., Hustert, E., Boncinelli, E., Balling, R., & Nadeau, J. H. (2000). A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression. Human Molecular Genetics, 9 (2), 227-36. doi:10.1093/hmg/9.2.227
Peer Reviewed verified by ORBi

Rathkolb, B., Fuchs, E., Kolb, H. J., Renner-Muller, I., Krebs, O., Balling, R., Hrabe de Angelis, M., & Wolf, E. (2000). Large-scale N-ethyl-N-nitrosourea mutagenesis of mice--from phenotypes to genes. Experimental Physiology, 85 (6), 635-44. doi:10.1111/j.1469-445x.2000.02094.x
Peer reviewed

Balling, R., & Hrabe de Angelis, M. (2000). From developmental biology to developmental toxicology. Annals of the New York Academy of Sciences, 919, 239-45. doi:10.1111/j.1749-6632.2000.tb06884.x
Peer reviewed

Balling, R., & Erben, R. G. (2000). From parathyroid to thymus, via glial cells. Nature Medicine, 6 (8), 860-1. doi:10.1038/78607
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Soewarto, D., Fella, C., Teubner, A., Rathkolb, B., Pargent, W., Heffner, S., Marschall, S., Wolf, E., Balling, R., & Hrabe de Angelis, M. (2000). The large-scale Munich ENU-mouse-mutagenesis screen. Mammalian Genome, 11 (7), 507-10. doi:10.1007/s003350010097
Peer Reviewed verified by ORBi

Rolinski, B., Arnecke, R., Dame, T., Kreischer, J., Olgemoller, B., Wolf, E., Balling, R., Hrabe de Angelis, M., & Roscher, A. A. (2000). The biochemical metabolite screen in the Munich ENU Mouse Mutagenesis Project: determination of amino acids and acylcarnitines by tandem mass spectrometry. Mammalian Genome, 11 (7), 547-51. doi:10.1007/s003350010105
Peer Reviewed verified by ORBi

Rathkolb, B., Decker, T., Fuchs, E., Soewarto, D., Fella, C., Heffner, S., Pargent, W., Wanke, R., Balling, R., Hrabe de Angelis, M., Kolb, H. J., & Wolf, E. (2000). The clinical-chemical screen in the Munich ENU Mouse Mutagenesis Project: screening for clinically relevant phenotypes. Mammalian Genome, 11 (7), 543-6. doi:10.1007/s003350010104
Peer Reviewed verified by ORBi

Fuchs, H., Schughart, K., Wolf, E., Balling, R., & Hrabe de Angelis, M. (2000). Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants. Mammalian Genome, 11 (7), 528-30. doi:10.1007/s003350010101
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Kiernan, A. E., Zalzman, M., Fuchs, H., Hrabe de Angelis, M., Balling, R., Steel, K. P., & Avraham, K. B. (1999). Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival. Journal of Neurocytology, 28 (10-11), 969-85. doi:10.1023/a:1007090626294
Peer reviewed

Furumoto, T. A., Miura, N., Akasaka, T., Mizutani-Koseki, Y., Sudo, H., Fukuda, K., Maekawa, M., Yuasa, S., Fu, Y., Moriya, H., Taniguchi, M., Imai, K., Dahl, E., Balling, R., Pavlova, M., Gossler, A., & Koseki, H. (1999). Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column development. Developmental Biology, 210 (1), 15-29. doi:10.1006/dbio.1999.9261
Peer Reviewed verified by ORBi

Graw, J., Jung, M., Loster, J., Klopp, N., Soewarto, D., Fella, C., Fuchs, H., Reis, A., Wolf, E., Balling, R., & Hrabe de Angelis, M. (1999). Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. Genomics, 62 (1), 67-73. doi:10.1006/geno.1999.5974
Peer Reviewed verified by ORBi

Dietz, U. H., Ziegelmeier, G., Bittner, K., Bruckner, P., & Balling, R. (1999). Spatio-temporal distribution of chondromodulin-I mRNA in the chicken embryo: expression during cartilage development and formation of the heart and eye. Developmental Dynamics : An Official Publication of the American Association of Anatomists, 216 (3), 233-43. doi:10.1002/(SICI)1097-0177(199911)216:3<233::AID-DVDY2>3.0.CO;2-G
Peer reviewed

Munz, B., Smola, H., Engelhardt, F., Bleuel, K., Brauchle, M., Lein, I., Evans, L. W., Huylebroeck, D., Balling, R., & Werner, S. (1999). Overexpression of activin A in the skin of transgenic mice reveals new activities of activin in epidermal morphogenesis, dermal fibrosis and wound repair. EMBO Journal, 18 (19), 5205-15. doi:10.1093/emboj/18.19.5205
Peer Reviewed verified by ORBi

Aruga, J., Mizugishi, K., Koseki, H., Imai, K., Balling, R., Noda, T., & Mikoshiba, K. (1999). Zic1 regulates the patterning of vertebral arches in cooperation with Gli3. Mechanisms of Development, 89 (1-2), 141-50. doi:10.1016/S0925-4773(99)00220-8
Peer Reviewed verified by ORBi

Peters, H., & Balling, R. (1999). Teeth. Where and how to make them. Trends in Genetics, 15 (2), 59-65. doi:10.1016/S0168-9525(98)01662-X
Peer reviewed

Peters, H., Wilm, B., Sakai, N., Imai, K., Maas, R., & Balling, R. (1999). Pax1 and Pax9 synergistically regulate vertebral column development. Development, 126 (23), 5399-408.
Peer reviewed

Markus, M. A., Reichmuth, C., Atkinson, M. J., Reich, U., Hoffmann, I., Balling, R., Anderer, U., & Hofler, H. (1999). Cadherin-11 is highly expressed in rhabdomyosarcomas and during differentiation of myoblasts in vitro. Journal of Pathology, 187 (2), 164-72. doi:10.1002/(SICI)1096-9896(199901)187:2<164::AID-PATH208>3.0.CO;2-3
Peer reviewed

Marschall, S., Huffstadt, U., Balling, R., & Hrabe de Angelis, M. (1999). Reliable recovery of inbred mouse lines using cryopreserved spermatozoa. Mammalian Genome, 10 (8), 773-6. doi:10.1007/s003359901090
Peer Reviewed verified by ORBi

Balling, R. (1998). Die Maus. In Seyffert (Ed.), Lehrbuch der Genetik (pp. 15, 309-322). Gustav Fischer Verlag, Stuttgart.
Peer reviewed

Hofmann, C., Drossopoulou, G., McMahon, A., Balling, R., & Tickle, C. (1998). Inhibitory action of BMPs on Pax1 expression and on shoulder girdle formation during limb development. Developmental Dynamics : An Official Publication of the American Association of Anatomists, 213 (2), 199-206. doi:10.1002/(SICI)1097-0177(199810)213:2<199::AID-AJA5>3.0.CO;2-B
Peer reviewed

Peters, H., Neubuser, A., & Balling, R. (1998). Pax genes and organogenesis: Pax9 meets tooth development. European Journal of Oral Sciences, 106 Suppl 1, 38-43. doi:10.1111/j.1600-0722.1998.tb02151.x
Peer Reviewed verified by ORBi

Wilm, B., Dahl, E., Peters, H., Balling, R., & Imai, K. (1998). Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency. Proceedings of the National Academy of Sciences of the United States of America, 95 (15), 8692-7. doi:10.1073/pnas.95.15.8692
Peer Reviewed verified by ORBi

Pusch, C., Hustert, E., Pfeifer, D., Sudbeck, P., Kist, R., Roe, B., Wang, Z., Balling, R., Blin, N., & Scherer, G. (1998). The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. Human Genetics, 103 (2), 115-23. doi:10.1007/s004390050793
Peer reviewed

Balling, R. (1998). Whose law for sharing research tools? Nature, 396 (6711), 509. doi:10.1038/24971
Peer Reviewed verified by ORBi

Hrabe de Angelis, M., & Balling, R. (1998). Large scale ENU screens in the mouse: genetics meets genomics. Mutation research, 400 (1-2), 25-32. doi:10.1016/S0027-5107(98)00061-X
Peer reviewed

Peters, H., Neubuser, A., Kratochwil, K., & Balling, R. (1998). Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes and Development, 12 (17), 2735-47. doi:10.1101/gad.12.17.2735
Peer reviewed

Balling, R., Hrabe de Angelis, M., Schughart, K., & Wolf, E. (1998). We need more mutants: Plans for a large scale ENU mouse mutagenesis screen. OECD Economics Department Working Papers, (98), 103-111.
Peer reviewed

Hillebrandt, S., Streffer, C., Montagutelli, X., & Balling, R. (1998). A locus for radiation-induced gastroschisis on mouse Chromosome 7. Mammalian Genome, 9 (12), 995-7. doi:10.1007/s003359900913
Peer Reviewed verified by ORBi

Dahl, E., Willecke, K., & Balling, R. (1997). Segment-specific expression of the gap junction gene connexin 31 during hindbrain development. Development Genes & Evolution, (207), 359-361. doi:10.1007/s004270050123
Peer reviewed

Neubuser, A., Peters, H., Balling, R., & Martin, G. R. (1997). Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell, 90 (2), 247-55. doi:10.1016/S0092-8674(00)80333-5
Peer Reviewed verified by ORBi

Peters, H., Neubüser, A., Wallin, J., Hostik, U., & Balling, R. (1997). The Genetics of Vertebral Column Development. In Thiel & Klug (Eds.), Methods in Developmental Toxicology (pp. 135-149). Blackwell.
Peer reviewed

Balling, R. (1997). Transgenic technology as a tool. In P. Thorogood (edt.) Embryos, Genes and Birth (pp. 4: 49-67). John Wiley & Sons Ltd., Baffins Lane, Chichester.
Peer reviewed

Dahl, E., Koseki, H., & Balling, R. (1997). Pax genes and organogenesis. BioEssays, 19 (9), 755-65. doi:10.1002/bies.950190905
Peer reviewed

Peters, H., Schuster, G., Neubuser, A., Richter, T., Hofler, H., & Balling, R. (1997). Isolation of the Pax9 cDNA from adult human esophagus. Mammalian Genome, 8 (1), 62-4. doi:10.1007/s003359900351
Peer Reviewed verified by ORBi

Balling, R. (1996). Drug Toxicity in Embryonic Development; Chapter 4: Axial Skeleton. In R. Kavlock & G. Daston (Eds.), Handbook of Experimental Pharmacology (pp. 77-112). Springer.
Peer reviewed

Balling, R. (1996). Von Knick- und Ringelschwänzen - Mäuse als Modellorganismus. Forschung-Mitteilungen der DFG, (2), 13-14.
Peer reviewed

Wilting, J., Müller, T. S., Ebensperger, C., Brand-Saberi, B., Christ, B., Neubüser, A., Balling, R., & Koseki, H. (1996). Development of the vertebral column: Morphogenesis and genes. In R. Vorgel, J. Fanghaenel, ... J. Giebel (Eds.), Aspects of Teratologie. Tectum Verlag.
Peer reviewed

Muller, T., Ebensperger, C., Neubuser, A., Koseki, H., Balling, R., Christ, B., & Wilting, J. (1996). Expression of avian Pax1 and Pax9 is intrinsically regulated in the pharyngeal endoderm, but depends on environmental influences in the paraxial mesoderm. Developmental Biology, 178 (2), 403-17. doi:10.1006/dbio.1996.0227
Peer Reviewed verified by ORBi

Hol, F. A., Geurds, M. P., Chatkupt, S., Shugart, Y. Y., Balling, R., Schrander-Stumpel, C. T., Johnson, W. G., Hamel, B. C., & Mariman, E. C. (1996). PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. Journal of Medical Genetics, 33 (8), 655-60. doi:10.1136/jmg.33.8.655
Peer Reviewed verified by ORBi

Hofmann, C., Luo, G., Balling, R., & Karsenty, G. (1996). Analysis of limb patterning in BMP-7-deficient mice. Developmental Genetics, 19 (1), 43-50. doi:10.1002/(SICI)1520-6408(1996)19:1<43::AID-DVG5>3.0.CO;2-0
Peer Reviewed verified by ORBi

Balling, R., Helwig, U., Nadeau, J., Neubuser, A., Schmahl, W., & Imai, K. (1996). Pax genes and skeletal development. Annals of the New York Academy of Sciences, 785, 27-33. doi:10.1111/j.1749-6632.1996.tb56240.x
Peer reviewed

Akasaka, T., Kanno, M., Balling, R., Mieza, M. A., Taniguchi, M., & Koseki, H. (1996). A role for mel-18, a Polycomb group-related vertebrate gene, during theanteroposterior specification of the axial skeleton. Development, 122 (5), 1513-22.
Peer reviewed

Wallin, J., Eibel, H., Neubuser, A., Wilting, J., Koseki, H., & Balling, R. (1996). Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation. Development, 122 (1), 23-30.
Peer reviewed

Balling, R., Neubüser, A., & Christ, B. (1996). Pax genes and sclerotome induction. Seminars in Cell and Developmental Biology, (7), 129-136. doi:10.1006/scdb.1996.0018
Peer Reviewed verified by ORBi

Hustert, E., Scherer, G., Olowson, M., Guenet, J. L., & Balling, R. (1996). Rbt (Rabo torcido), a new mouse skeletal mutation involved in anteroposterior patterning of the axial skeleton, maps close to the Ts (tail-short) locus and distal to the Sox9 locus on chromosome 11. Mammalian Genome, 7 (12), 881-5. doi:10.1007/s003359900261
Peer Reviewed verified by ORBi

Balling, R. (1995). Von Mäusen und Menschen In: “Genetische Determinierung: Schicksal aus den Genen?”. GSF-Mensch und Umwelt, (10), 17-23.
Peer reviewed

Ebensperger, C., Wilting, J., Brand-Saberi, B., Mizutani, Y., Christ, B., Balling, R., & Koseki, H. (1995). Pax-1, a regulator of sclerotome development is induced by notochord and floor plate signals in avian embryos. Anatomy & Embryology, 191 (4), 297-310. doi:10.1007/BF00534682
Peer reviewed

Lynch, S. A., Bond, P. M., Copp, A. J., Kirwan, W. O., Nour, S., Balling, R., Mariman, E., Burn, J., & Strachan, T. (1995). A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nature Genetics, 11 (1), 93-5. doi:10.1038/ng0995-93
Peer Reviewed verified by ORBi

Neubuser, A., Koseki, H., & Balling, R. (1995). Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1. Developmental Biology, 170 (2), 701-16. doi:10.1006/dbio.1995.1248
Peer Reviewed verified by ORBi

Helwig, U., Imai, K., Schmahl, W., Thomas, B. E., Varnum, D. S., Nadeau, J. H., & Balling, R. (1995). Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. Nature Genetics, 11 (1), 60-3. doi:10.1038/ng0995-60
Peer Reviewed verified by ORBi

Hoffmann, I., & Balling, R. (1995). Cloning and expression analysis of a novel mesodermally expressed cadherin. Developmental Biology, 169 (1), 337-46. doi:10.1006/dbio.1995.1148
Peer Reviewed verified by ORBi

Otsen, M., Balling, R., Den Bieman, M., & Van Zutphen, L. F. (1995). Assignment of the paired box gene Pax1 to rat chromosome 3. Mammalian Genome, 6 (9), 666-7. doi:10.1007/BF00352378
Peer Reviewed verified by ORBi

Hoffman, I., & Balling, R. (1995). Chromosomal localization of the murine cadherin-11. Mammalian Genome, 6 (4), 304. doi:10.1007/BF00352423
Peer Reviewed verified by ORBi

Balling, R., Koseki, H., Wallin, J., Ebensperger, C., Wilting, J., & Christ, B. (1994). Mouse genetics and the development of vertebral column development. Proceedings Greenwood Genetics Center, (13), 58-60.
Peer reviewed

Balling, R. (1994). The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue? Clinical Dysmorphology, 3 (3), 185-91. doi:10.1097/00019605-199407000-00001
Peer reviewed

Balling, R. (1994). [Transgenic mice--biological fundamentals, practices and applications]. DTW. Deutsche tierarztliche Wochenschrift, 101 (3), 94-5.
Peer reviewed

Wallin, J., Wilting, J., Koseki, H., Fritsch, R., Christ, B., & Balling, R. (1994). The role of Pax-1 in axial skeleton development. Development, 120 (5), 1109-21.
Peer reviewed

Bober, E., Brand-Saberi, B., Ebensperger, C., Wilting, J., Balling, R., Paterson, B. M., Arnold, H. H., & Christ, B. (1994). Initial steps of myogenesis in somites are independent of influence from axial structures. Development, 120 (11), 3073-82.
Peer reviewed

Timmons, P. M., Wallin, J., Rigby, P. W., & Balling, R. (1994). Expression and function of Pax 1 during development of the pectoral girdle. Development, 120 (10), 2773-85.
Peer reviewed

Brand-Saberi, B., Ebensperger, C., Wilting, J., Balling, R., & Christ, B. (1993). The ventralizing effect of the notochord on somite differentiation in chick embryos. Anatomy & Embryology, 188 (3), 239-45. doi:10.1007/BF00188215
Peer reviewed

Goulding, M., Sterrer, S., Fleming, J., Balling, R., Nadeau, J., Moore, K. J., Brown, S. D., Steel, K. P., & Gruss, P. (1993). Analysis of the Pax-3 gene in the mouse mutant splotch. Genomics, 17 (2), 355-63. doi:10.1006/geno.1993.1332
Peer Reviewed verified by ORBi

Balling, R., Ebensperger, C., Hoffmann, I., Imai, K., Koseki, H., Mizutani, Y., & Wallin, J. (1993). The genetics of skeletal development. Annales de Génétique, 36 (1), 56-62.
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Koseki, H., Wallin, J., Wilting, J., Mizutani, Y., Kispert, A., Ebensperger, C., Herrmann, B. G., Christ, B., & Balling, R. (1993). A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae. Development, 119 (3), 649-60.
Peer reviewed

Wallin, J., Mizutani, Y., Imai, K., Miyashita, N., Moriwaki, K., Taniguchi, M., Koseki, H., & Balling, R. (1993). A new Pax gene, Pax-9, maps to mouse chromosome 12. Mammalian Genome, 4 (7), 354-8. doi:10.1007/BF00360584
Peer Reviewed verified by ORBi

Koseki, H., Zachgo, J., Mizutani, Y., Simon-Chazottes, D., Guenet, J. L., Balling, R., & Gossler, A. (1993). Fine genetic mapping of the proximal part of mouse chromosome 2 excludes Pax-8 as a candidate gene for Danforth's short tail (Sd). Mammalian Genome, 4 (6), 324-7. doi:10.1007/BF00357091
Peer Reviewed verified by ORBi

Nass, S. J., Olowson, M., Miyashita, N., Moriwaki, K., Balling, R., & Imai, K. (1993). Mapping of the Mod-1 locus on mouse chromosome 9. Mammalian Genome, 4 (6), 333-7. doi:10.1007/BF00357093
Peer Reviewed verified by ORBi

Imai, K., Nass, S. J., Olowson, M., & Balling, R. (1993). The genetic map around the tail kinks (tk) locus on mouse chromosome 9. Mammalian Genome, 4 (10), 560-4. doi:10.1007/BF00361385
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Balling, R., Lau, C. F., Dietrich, S., Wallin, J., & Gruss, P. (1992). Development of the skeletal system. Ciba Foundation Symposium, 165, 132-40; discussion 140-3.
Peer Reviewed verified by ORBi

Schnittger, S., Rao, V. V., Deutsch, U., Gruss, P., Balling, R., & Hansmann, I. (1992). Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). Genomics, 14 (3), 740-4. doi:10.1016/S0888-7543(05)80177-6
Peer Reviewed verified by ORBi

Tassabehji, M., Read, A. P., Newton, V. E., Harris, R., Balling, R., Gruss, P., & Strachan, T. (1992). Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature, 355 (6361), 635-6. doi:10.1038/355635a0
Peer Reviewed verified by ORBi

Gossler, A., & Balling, R. (1992). The molecular and genetic analysis of mouse development. European Journal of Biochemistry, 204 (1), 5-11. doi:10.1111/j.1432-1033.1992.tb16599.x
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Balling, R. (1991). CRABP and the teratogenic effects of retinoids. Trends in Genetics, (7), 279-287. doi:10.1016/0168-9525(91)90224-E
Peer reviewed

Walther, C., Guenet, J. L., Simon, D., Deutsch, U., Jostes, B., Goulding, M. D., Plachov, D., Balling, R., & Gruss, P. (1991). Pax: a murine multigene family of paired box-containing genes. Genomics, 11 (2), 424-34. doi:10.1016/0888-7543(91)90151-4
Peer Reviewed verified by ORBi

Yeom, Y. I., Ha, H. S., Balling, R., Scholer, H. R., & Artzt, K. (1991). Structure, expression and chromosomal location of the Oct-4 gene. Mechanisms of Development, 35 (3), 171-9. doi:10.1016/0925-4773(91)90016-Y
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Puschel, A. W., Balling, R., & Gruss, P. (1991). Separate elements cause lineage restriction and specify boundaries of Hox-1.1 expression. Development, 112 (1), 279-87.
Peer reviewed

Schöler, H. R., Dressler, G. R., Balling, R., Rohdewohld, H., & Gruss, P. (1990). Oct-4: a germline-specific transcription factor mapping to the mouse t-complex. EMBO journal, (9), 2185-2195. doi:10.1002/j.1460-2075.1990.tb07388.x
Peer reviewed

Kessel, M., Balling, R., & Gruss, P. (1990). The role of homeobox genes in mammalian development. Developmental Endocrinology.
Peer reviewed

Püschel, A., Balling, R., & Gruss, P. (1990). Analysis of the spatial and temporal control of Hox 1.1 in transgenic mice. Development, (108), 435-442.
Peer reviewed

Theuring, F., Gotz, W., Balling, R., Korf, H. W., Schulze, F., Herken, R., & Gruss, P. (1990). Tumorigenesis and eye abnormalities in transgenic mice expressing MSV-SV40 large T-antigen. Oncogene, 5 (2), 225-32.
Peer Reviewed verified by ORBi

Kessel, M., Balling, R., & Gruss, P. (1990). Variations of cervical vertebrae after expression of a Hox-1.1 transgene in mice. Cell, 61 (2), 301-8. doi:10.1016/0092-8674(90)90810-2
Peer Reviewed verified by ORBi

Balling, R., & Kessel, M. (1990). Development(s) in mouse genetics. Biochemistry & Cell Biology, 68 (2), 404-7. doi:10.1139/o90-058
Peer reviewed

Puschel, A. W., Balling, R., & Gruss, P. (1990). Position-specific activity of the Hox1.1 promoter in transgenic mice. Development, 108 (3), 435-42.
Peer reviewed

Scholer, H. R., Hatzopoulos, A. K., Balling, R., Suzuki, N., & Gruss, P. (1989). A family of octamer-specific proteins present during mouse embryogenesis: evidence for germline-specific expression of an Oct factor. EMBO Journal, 8 (9), 2543-50. doi:10.1002/j.1460-2075.1989.tb08392.x
Peer Reviewed verified by ORBi

Chowdhury, K., Dietrich, S., Balling, R., Guenet, J. L., & Gruss, P. (1989). Structure, expression and chromosomal localization of Zfp-1, a murine zinc finger protein gene. Nucleic Acids Research, 17 (24), 10427-38. doi:10.1093/nar/17.24.10427
Peer Reviewed verified by ORBi

Scholer, H. R., Balling, R., Hatzopoulos, A. K., Suzuki, N., & Gruss, P. (1989). Octamer binding proteins confer transcriptional activity in early mouse embryogenesis. EMBO Journal, 8 (9), 2551-7. doi:10.1002/j.1460-2075.1989.tb08393.x
Peer Reviewed verified by ORBi

Balling, R., Mutter, G., Gruss, P., & Kessel, M. (1989). Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice. Cell, 58 (2), 337-47. doi:10.1016/0092-8674(89)90848-9
Peer Reviewed verified by ORBi

Schöler, H. R., Balling, R., Hatzopoulos, A. K., Suzuki, N., & Gruss, P. (1989). Transcriptional activity of the octamer motif in embryonic stem cells and preimplantation embryos. Hormones and Cell Regulation, 198 (14), 91-95.
Peer reviewed

Dressler, G. R., Deutsch, U., Balling, R., Simon, D., Guenet, J. L., & Gruss, P. (01 January 1988). Murine Genes with homology to Drosophila segmentation genes. Development, 0 (104), 181-186.
Peer Reviewed verified by ORBi

Balling, R., Deutsch, U., & Gruss, P. (1988). undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1. Cell, 55 (3), 531-5. doi:10.1016/0092-8674(88)90039-6
Peer Reviewed verified by ORBi

Duprey, P., Chowdhury, K., Dressler, G. R., Balling, R., Simon, D., Guenet, J. L., & Gruss, P. (1988). A mouse gene homologous to the Drosophila gene caudal is expressed in epithelial cells from the embryonic intestine. Genes and Development, 2 (12A), 1647-54. doi:10.1101/gad.2.12a.1647
Peer reviewed

Sapienza, C., Peterson, A. C., Rossant, J., & Balling, R. (1987). Degree of methylation of transgenes is dependent on gamete of origin. Nature, 328 (6127), 251-4. doi:10.1038/328251a0
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Huszar, D., Balling, R., Kothary, R., Magli, M. C., Hozumi, N., Rossant, J., & Bernstein, A. (1985). Insertion of a bacterial gene into the mouse germ line using an infectious retrovirus vector. Proceedings of the National Academy of Sciences of the United States of America, 82 (24), 8587-91. doi:10.1073/pnas.82.24.8587
Peer Reviewed verified by ORBi

Balling, R., Haaf, H., Maydl, R., Metzler, M., & Beier, H. M. (1985). Oxidative and conjugative metabolism of diethylstilbestrol by rabbit preimplantation embryos. Developmental Biology, 109 (2), 370-4. doi:10.1016/0012-1606(85)90462-2
Peer Reviewed verified by ORBi

Balling, R., & Beier, H. M. (1985). Direct effects of nicotine on rabbit preimplantation embryos. Toxicology, 34 (4), 309-13. doi:10.1016/0300-483X(85)90141-6
Peer Reviewed verified by ORBi

Coon, C., & Balling, R. (1984). Asparagine and glutamine metabolism in chicks. Poultry Science, 63 (4), 717-29. doi:10.3382/ps.0630717
Peer Reviewed verified by ORBi

Balling, R., & Coon, C. (1981). Effect Of Dietary Asparagine And Protein-Equivalents In Crystalline Amino-Acid Diets On Asparagine Metabolism In Chicks. Journal of Nutrition, 111 (10), 1749-1756. doi:10.1093/jn/111.10.1749
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