Hôpital Necker-Enfants malades


Paris, France

Publications in cooperation with FAU scientists

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G.,... Bernardini, L. (2019). Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Clinical Genetics. https://dx.doi.org/10.1111/cge.13565
Beziat, V., Li, J., Lin, J.-X., Ma, C.S., Li, P., Bousfiha, A.,... Casanova, J.-L. (2018). A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Science immunology, 3(24). https://dx.doi.org/10.1126/sciimmunol.aat4956
Scharfman, H.E., Kanner, A.M., Friedman, A., Blümcke, I., Crocker, C.E., Cendes, F.,... Pohlmann-Eden, B. (2018). Epilepsy as a Network Disorder (2): What can we learn from other network disorders such as dementia and schizophrenia, and what are the implications for translational research? Epilepsy and Behavior, 78, 302-312. https://dx.doi.org/10.1016/j.yebeh.2017.09.016
Martinez-Barricarte, R., Markle, J.G., Ma, C.S., Deenick, E.K., Ramirez-Alejo, N., Mele, F.,... Casanova, J.-L. (2018). Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. Science immunology, 3(30). https://dx.doi.org/10.1126/sciimmunol.aau6759
De Jong, S.J., Crequer, A., Matos, I., Hum, D., Gunasekharan, V., Lorenzo, L.,... Casanova, J.-L. (2018). The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to beta-papillomaviruses. Journal of Experimental Medicine, 215(9), 2289-2310. https://dx.doi.org/10.1084/jem.20170308
Beniczky, S., Aurlien, H., Brogger, J.C., Hirsch, L.J., Schomer, D.L., Trinka, E.,... Herman, S.T. (2017). Standardized computer-based organized reporting of EEG: SCORE - Second version. Clinical Neurophysiology, 128(11), 2334-2346. https://dx.doi.org/10.1016/j.clinph.2017.07.418
Jackson, C.C., Best, L., Lorenzo, L., Casanova, J.-L., Wacker, J., Bertz, S.,... Harrer, T. (2016). A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. Journal of Clinical Immunology, 36(1), 19-27. https://dx.doi.org/10.1007/s10875-015-0225-6
Wohlfart, S., Söder, S., Smahi, A., & Schneider, H. (2016). A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. American Journal of Medical Genetics Part A, 170A(1), 249-53. https://dx.doi.org/10.1002/ajmg.a.37412
Vely, F., Barlogis, V., Vallentin, B., Neven, B., Piperoglou, C., Ebbo, M.,... Vivier, E. (2016). Corrigendum: Evidence of innate lymphoid cell redundancy in humans. Nature Immunology, 17(12), 1479. https://dx.doi.org/10.1038/ni1216-1479b
Vely, F., Barlogis, V., Vallentin, B., Neven, B., Piperoglou, C., Perchet, T.,... Vivier, E. (2016). Evidence of innate lymphoid cell redundancy in humans. Nature Immunology, 17(11), 1291-1299. https://dx.doi.org/10.1038/ni.3553
Magiorkinis, G., Angelis, K., Mamais, I., Katzourakis, A., Hatzakis, A., Albert, J.,... Paraskevis, D. (2016). The global spread of HIV-1 subtype B epidemic. Infection Genetics and Evolution, 46, 169-179. https://dx.doi.org/10.1016/j.meegid.2016.05.041
Martínez-Barricarte, R., De Jong, S.J., Markle, J., De Paus, R., Boisson-Dupuis, S., Bustamante, J.,... Casanova, J.L. (2016). Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest. Current Protocols in Immunology, 115, 7.21C.1-7.21C.12. https://dx.doi.org/10.1002/cpim.15
Kosfeld, A., Kreuzer, M., Daniel, C., Brand, F., Schaefer, A.-K., Chadt, A.,... Weber, R.G. (2016). Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Human genetics, 135(1), 69-87. https://dx.doi.org/10.1007/s00439-015-1610-1
Kreins, A.Y., Ciancanelli, M.J., Okada, S., Kong, X.-F., Ramirez-Alejo, N., Kilic, S.S.,... Boisson-Dupuis, S. (2015). Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. Journal of Experimental Medicine, 212(10), 1641-62. https://dx.doi.org/10.1084/jem.20140280
Ekici, A.B., Hackenbeck, T., Moriniere, V., Panness, A., Büttner, M., Uebe, S.,... Wiesener, M.S. (2014). Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney International, 86(3), 589-99. https://dx.doi.org/10.1038/ki.2014.72
Wildenhain, S., Ruckert, C., Roettgers, S., Harbott, J., Ludwig, W.-D., Schuster, F.R.,... Borkhardt, A. (2010). Expression of cell-cell interacting genes distinguishes HLXB9/TEL from MLL-positive childhood acute myeloid leukemia. Leukemia, 24(9), 1657-1660. https://dx.doi.org/10.1038/leu.2010.146

Last updated on 2017-09-03 at 09:13