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Israel, L. et al. Human adaptive immunity rescues an inborn error of innate immunity. Cell 168, 789–800 (2017).


Zhang, S.Y. et al. Inborn errors of RNA lariat metabolism in humans with brainstem viral infection. Cell 172, 952–965 (2018)


Ganier C, Titeux M, Gaucher S, Peltzer J, Le Lorc'h M, Lataillade JJ, Ishida-Yamamoto A, Hovnanian A. Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Recessive Dystrophic Epidermolysis Bullosa in a Xenograft Model. J Invest Dermatol. 2018 Jul 11. pii: S0022-202X(18)31965-1


Izmiryan A, Ganier C, Bovolenta M, Schmitt A, Mavilio F, Hovnanian A. Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair. Mol Ther Nucleic Acids. 2018 Sep 7;12:554-567.


Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest. 2017 Mar 1;127(3):912-928.


Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M. A homozygous mutation in KAT2B extends the spectrum of ADD3-dependent intellectual disability syndrome PLoS Genet. 2018 May 16;14(5):e1007386.


Charbit-Henrion, F., Parlato, M., Hanein, S., Duclaux-Loras, R., Nowak, J., Begue, B., Rakotobe, S., Bruneau, J., Fourrage, C., Alibeu, O., Rieux-Laucat, F., Levy, E., Stolzenberg, M. C., Mazerolles, F., Latour, S., Lenoir, C., Fischer, A., Picard, C., Aloi, M., Amil Dias, J., Ben Hariz, M., Bourrier, A., Breuer, C., Breton, A., Bronski, J., Buderus, S., Cananzi, M., Coopman, S., Cremilleux, C., Dabadie, A., Dumant-Forest, C., Egritas Gurkan, O., Fabre, A., Fischer, A., German Diaz, M., Gonzalez-Lama, Y., Goulet, O., Guariso, G., Gurcan, N., Homan, M., Hugot, J. P., Jeziorski, E., Karanika, E., Lachaux, A., Lewindon, P., Lima, R., Magro, F., Major, J., Malamut, G., Mas, E., Mattyus, I., Mearin, L. M., Melek, J., Navas-Lopez, V. M., Paerregaard, A., Pelatan, C., Pigneur, B., Pinto Pais, I., Rebeuh, J., Romano, C., Siala, N., Strisciuglio, C., Tempia-Caliera, M., Tounian, P., Turner, D., Urbonas, V., Willot, S., Ruemmele, F. M. and Cerf-Bensussan, N. Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study. J Crohns Colitis. 2018 on line May 18. pii: 4999332. doi: 10.1093/ecco-jcc/jjy068


Parlato, M., Charbit-Henrion, F., Pan, J., Romano, C., Duclaux-Loras, R., Le Du, M. H., Warner, N., Francalanci, P., Bruneau, J., Bras, M., Zarhrate, M., Begue, B., Guegan, N., Rakotobe, S., Kapel, N., De Angelis, P., Griffiths, A. M., Fiedler, K., Crowley, E., Ruemmele, F., Muise, A. M. and Cerf-Bensussan, N. Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis EMBO Mol Med. April;. 10(4). pii: emmm.201708483. doi: 10.15252/emmm.201708483.


Wang, L, Hsiao, E., Lieu, S., Scott, M., O’Carroll, D., Urrutiab, A., Conklin, B., Colnot, C. and Nissenson, B. Loss of G(i) G-Protein-Coupled Receptor Signaling in Osteoblasts Accelerates Bone Fracture Healing Journal of Bone and Mineral Research 2015 Oct;30(10):1896-904


Abou-Khalil, R, Yang, F, Lieu, S, Julien, A, Perry, J, Pereira, C, Relaix, F., Miclau, T, Marcucio, R and Colnot, C Role of muscle stem cells during skeletal regeneration Stem Cells 2015, 33(5):1501-11.