Expertise

Equipments

Main achievements

Genomax carries out about 50 sequencing projects per year. Members of the platform are co-authors of more than 50 publications (see: https://pubmed.ncbi.nlm.nih.gov/?term=genomax+strasbourg&sort=date&size=100 )
The platform is particularly involved in the genetic exploration of immune-mediated diseases, including autoimmune diseases, immune deficiencies and transplantation-related complications. It is also interested in the identification of genes responsible for various diseases through familial exome analysis.

Examples of publications:

1. Carapito, R., R. Li, J. Helms, C. Carapito, S. Gujja, V. Rolli, R. Guimaraes, J. Malagon-Lopez, P. Spinnhirny, A. Lederle, R. Mohseninia, A. Hirschler, L. Muller, P. Bastard, A. Gervais, Q. Zhang, F. Danion, Y. Ruch, M. Schenck, O. Collange, T. N. Chamaraux-Tran, A. Molitor, A. Pichot, A. Bernard, O. Tahar, S. Bibi-Triki, H. Wu, N. Paul, S. Mayeur, A. Larnicol, G. Laumond, J. Frappier, S. Schmidt, A. Hanauer, C. Macquin, T. Stemmelen, M. Simons, X. Mariette, O. Hermine, S. Fafi-Kremer, B. Goichot, B. Drenou, K. Kuteifan, J. Pottecher, P. M. Mertes, S. Kailasan, M. J. Aman, E. Pin, P. Nilsson, A. Thomas, A. Viari, D. Sanlaville, F. Schneider, J. Sibilia, P. L. Tharaux, J. L. Casanova, Y. Hansmann, D. Lidar, M. Radosavljevic, J. R. Gulcher, F. Meziani, C. Moog, T. W. Chittenden and S. Bahram (2022). “Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.” Sci Transl Med 14(628): eabj7521.
2. Castro, C. N., M. Rosenzwajg, R. Carapito, M. Shahrooei, M. Konantz, A. Khan, Z. Miao, M. Gross, T. Tranchant, M. Radosavljevic, N. Paul, T. Stemmelen, F. Pitoiset, A. Hirschler, B. Nespola, A. Molitor, V. Rolli, A. Pichot, L. E. Faletti, B. Rinaldi, S. Friant, M. Mednikov, H. Karauzum, M. J. Aman, C. Carapito, C. Lengerke, V. Ziaee, W. Eyaid, S. Ehl, F. Alroqi, N. Parvaneh and S. Bahram (2020). “NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.” J Exp Med 217(12).
3. Carapito, R., E. L. Ivanova, A. Morlon, L. Meng, A. Molitor, E. Erdmann, B. Kieffer, A. Pichot, L. Naegely, A. Kolmer, N. Paul, A. Hanauer, F. Tran Mau-Them, N. Jean-Marcais, S. M. Hiatt, G. M. Cooper, T. Tvrdik, A. M. Muir, C. Dimartino, M. Chopra, J. Amiel, C. T. Gordon, F. Dutreux, A. Garde, C. Thauvin-Robinet, X. Wang, M. S. Leduc, M. Phillips, H. P. Crawford, M. K. Kukolich, D. Hunt, V. Harrison, M. Kharbanda, S. Deciphering Developmental Disorders, G. University of Washington Center for Mendelian, R. Smigiel, N. Gold, C. Y. Hung, D. H. Viskochil, S. L. Dugan, P. Bayrak-Toydemir, G. Joly-Helas, A. M. Guerrot, C. Schluth-Bolard, M. Rio, I. M. Wentzensen, K. McWalter, R. E. Schnur, A. M. Lewis, S. R. Lalani, N. Mensah-Bonsu, J. Ceraline, Z. Sun, R. Ploski, C. A. Bacino, H. C. Mefford, L. Faivre, O. Bodamer, J. Chelly, B. Isidor and S. Bahram (2019). “ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.” Am J Hum Genet 104(2): 319-330.
4. Molitor, A., T. Prud’homme, Z. Miao, S. Conrad, A. Bloch-Zupan, A. Pichot, A. Hanauer, B. Isidor, S. Bahram and R. Carapito (2019). “Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.” J Hum Genet 64(7): 689-694.
5. Carapito, R., C. Carapito, A. Morlon, N. Paul, A. S. Vaca Jacome, G. Alsaleh, V. Rolli, O. Tahar, I. Aouadi, M. Rompais, F. Delalande, A. Pichot, P. Georgel, L. Messer, J. Sibilia, S. Cianferani, A. Van Dorsselaer and S. Bahram (2018). “Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.” Ann Rheum Dis 77(11): 1675-1687.
6. Domingo-Calap, P., B. Schubert, M. Joly, M. Solis, M. Untrau, R. Carapito, P. Georgel, S. Caillard, S. Fafi-Kremer, N. Paul, O. Kohlbacher, F. Gonzalez-Candelas and S. Bahram (2018). “An unusually high substitution rate in transplant-associated BK polyomavirus in vivo is further concentrated in HLA-C-bound viral peptides.” PLoS Pathog 14(10): e1007368.
7. Carapito, R., M. Konantz, C. Paillard, Z. Miao, A. Pichot, M. S. Leduc, Y. Yang, K. L. Bergstrom, D. H. Mahoney, D. L. Shardy, G. Alsaleh, L. Naegely, A. Kolmer, N. Paul, A. Hanauer, V. Rolli, J. S. Muller, E. Alghisi, L. Sauteur, C. Macquin, A. Morlon, C. S. Sancho, P. Amati-Bonneau, V. Procaccio, A. L. Mosca-Boidron, N. Marle, N. Osmani, O. Lefebvre, J. G. Goetz, S. Unal, N. A. Akarsu, M. Radosavljevic, M. P. Chenard, F. Rialland, A. Grain, M. C. Bene, M. Eveillard, M. Vincent, J. Guy, L. Faivre, C. Thauvin-Robinet, J. Thevenon, K. Myers, M. D. Fleming, A. Shimamura, E. Bottollier-Lemallaz, E. Westhof, C. Lengerke, B. Isidor and S. Bahram (2017). “Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.” J Clin Invest 127(11): 4090-4103.
8. Carapito, R., A. Goldenberg, N. Paul, A. Pichot, A. David, A. Hamel, C. Dumant-Forest, J. Leroux, B. Ory, B. Isidor and S. Bahram (2016). “Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.” Eur J Hum Genet 24(12): 1746-1751.
9. Carapito, R., B. Isidor, N. Guerouaz, M. Untrau, M. Radosavljevic, E. Launay, E. Cassagnau, C. Frenard, H. Aubert, B. Romefort, C. Le Caignec, L. Ott, N. Paul, S. Barbarot and S. Bahram (2015). “Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.” Br J Dermatol 172(1): 302-305.
10. Carapito, R., N. Paul, M. Untrau, M. Le Gentil, L. Ott, G. Alsaleh, P. Jochem, M. Radosavljevic, C. Le Caignec, A. David, P. Damier, B. Isidor and S. Bahram (2015). “A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.” Mov Disord 30(3): 423-427.

Last update January 2025