Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance by Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Li, Y, Kayserili, H, Al-Gazali, L, Brancati, F, Lee, H, O'Connor, B, Kornak, U, Schmidt-von Kegler, M, Merriman, B, Nelson, S.F, Masri, A, Guerra, D, nanda, A, Rajab, A, Grix, A, Sommer, A, Janecke, A.R, Steichen, E, Nürnberg, P, Seemann, P, Zambruno, G, Dallapiccola, B, Schuelke, M, Robertson, S, Hamamy, H, Wollnik, B, Van Maldergem, L, Mundlos, S

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A sensitive flow cytometry method for anti-GM1 antibodies detection by Escande-Beillard, Nathalie, David, Marie J., Portoukalian, Jacques, Pouget, Jean, Azulay, Jean P., Bernard, Dominique, Boucraut, José

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Neutrophil Gelatinase-Associated Lipocalin (NGAL), a new early marker of dehydration in the elderly by Escande Orthilieb, M., Mordarska, M., Marsoubian, L., Escande-Beillard, N., Beillard, E.

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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex by Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Reversade, Bruno, Wagner, Eric J.

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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome by Loh, Abigail Y. T., Špoljar, Sanja, Neo, Granville Y. W., Escande‐Beillard, Nathalie, Leushacke, Marc, Luijten, Monique N. H., Venkatesh, Byrappa, Bonnard, Carine, Steensel, Maurice A. M., Hamm, Henning, Carmichael, Andrew, Rajan, Neil, Carney, Thomas J., Reversade, Bruno

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Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2 by Escande-Beillard, Nathalie, Loh, Abigail, Saleem, Sahar N., Kanata, Kohei, Hashimoto, Yui, Altunoglu, Umut, Metoska, Artina, Grandjean, Joanes, Ng, Fui Mee, Pomp, Oz, Baburajendran, Nithya, Wong, Joyner, Hill, Jeffrey, Beillard, Emmanuel, Cozzone, Patrick, Zaki, Maha, Kayserili, Hülya, Hamada, Hiroshi, Shiratori, Hidetaka, Reversade, Bruno

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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa by Fischer-Zirnsak, Björn, Escande-Beillard, Nathalie, Ganesh, Jaya, Tan, Yu Xuan, Al Bughaili, Mohammed, Lin, Angela E., Sahai, Inderneel, Bahena, Paulina, Reichert, Sara L., Loh, Abigail, Wright, Graham D., Liu, Jaron, Rahikkala, Elisa, Pivnick, Eniko K., Choudhri, Asim F., Krüger, Ulrike, Zemojtel, Tomasz, van Ravenswaaij-Arts, Conny, Mostafavi, Roya, Stolte-Dijkstra, Irene, Symoens, Sofie, Pajunen, Leila, Al-Gazali, Lihadh, Meierhofer, David, Robinson, Peter N., Mundlos, Stefan, Villarroel, Camilo E., Byers, Peter, Masri, Amira, Robertson, Stephen P., Schwarze, Ulrike, Callewaert, Bert, Reversade, Bruno, Kornak, Uwe

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