Light response and efficiency calibration of EJ309 liquid scintillator between 3 and 45 MeV von Frégeau, M.O., Delarue, M., Frelin-Labalme, A.-M., Laurent, B., Ledoux, X., Varignon, C.

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The influence of the solvent in fast neutron/gamma discrimination von Hamel, Matthieu, Frelin-Labalme, A.-M., Normand, S.

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Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome von Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., Rossi, M., Till, M., Mougou-Zerelli, S., Edery, P., Saad, A., Heron, D., des Portes, V., Sanlaville, D., Lesca, G.

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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development von Benko, Sabina, Gordon, Christopher T, Mallet, Delphine, Sreenivasan, Rajini, Thauvin-Robinet, Christel, Brendehaug, Atle, Thomas, Sophie, Bruland, Ove, David, Michel, Nicolino, Marc, Labalme, Audrey, Sanlaville, Damien, Callier, Patrick, Malan, Valerie, Huet, Frédéric, Molven, Anders, Dijoud, Frédérique, Munnich, Arnold, Faivre, Laurence, Amiel, Jeanne, Harley, Vincent, Houge, Gunnar, Morel, Yves, Lyonnet, Stanislas

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Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders von Yammine, T, Reynaud, N, Lejeune, H, Diguet, F, Rollat-Farnier, P A, Labalme, A, Plotton, I, Farra, C, Sanlaville, D, Chouery, E, Schluth-Bolard, C

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Statistical method to compare massive parallel sequencing pipelines von Elsensohn, M H, Leblay, N, Dimassi, S, Campan-Fournier, A, Labalme, A, Roucher-Boulez, F, Sanlaville, D, Lesca, G, Bardel, C, Roy, P

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A genome-wide DNA methylation signature for SETD1B-related syndrome von Krzyzewska, I M, Maas, S M, Henneman, P, Lip, K V D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, van Essen, A J, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H-G, Labalme, A, Lewis, S M E, Lesca, G, Madrigal, I, Mahida, S, Matsumoto, N, Rabionet, R, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D A, Alders, M, Mannens, M M A M

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A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease von Chatron, N., Lesca, G., Labalme, A., Rollat‐Farnier, P.A., Monin, P., Pichot, E., Edery, P., Sanlaville, D., Rossi, M.

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West syndrome due to compound heterozygous QARS mutations von Poulat, A.L, Lesca, G, Chatron, N, Labalme, A, Des Portes, V, Sanlaville, D, De Bellescize, J, Ville, D

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Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history von Nguyen, K., Putoux, A., Busa, T., Cordier, M.P., Sigaudy, S., Till, M., Chabrol, B., Michel-Calemard, L., Bernard, R., Julia, S., Malzac, P., Labalme, A., Missirian, C., Edery, P., Popovici, C., Philip, N., Sanlaville, D.

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Delayed gamma power measurement for sodium-cooled fast reactors von Coulon, R., Normand, S., Ban, G., Barat, E., Montagu, T., Dautremer, T., Brau, H.-P., Dumarcher, V., Michel, M., Barbot, L., Domenech, T., Boudergui, K., Bourbotte, J.-M., Jousset, P., Barouch, G., Ravaux, S., Carrel, F., Saurel, N., Frelin-Labalme, A.-M., Hamrita, H., Kondrasovs, V.

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Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2 von Chatron, N, Møller, R.S, Champaigne, N.L, Kuechler, A, Labalme, A, Baggett, L, Wieczorek, D, Portes, V. des, Edery, P, Gardella, E, Scheffer, I.E, Mefford, H, Sanlaville, D, Carvill, G.L, Lesca, G

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Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism von Faoucher, M, Putoux, A, Francannet, C, Poulat, A.L, Chatron, N, Aquaviva, C, Labalme, A, Schluth-Bolard, C, Till, M, Saban, C, Desportes, V, Sanlaville, D, Edery, P, Lesca, G

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Christianson syndrome: An underestimated cause of electrical status epilepticus in sleep? von Mathieu, M.-L, de Bellescize, J, Till, M, Labalme, A, Chatron, N, Sanlaville, D, Ostrowsky-Coste, K, Des Portes, V, Lesca, G

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Next-generation sequencing (NGS) is a powerful tool to improve diagnostic yield in intellectual disability von Labalme, A, Chatron, N, Till, M, Cordier, M.P, Rossi, M, Putoux, A, Pons, L, des Portes, V, Edery, P, Sanlaville, D, Lesca, G

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6q22.1 deletion is associated with epilepsy and abnormal movements von Schluth-Bolard, C, Flamand-Roze, E, Masurel, A, Olivier-Faivre, L, Callier, P, Charles, P, Keren, B, Guillot, N, Labalme, A, Sanlaville, D, Mochel, F, Des Portes, V, Lesca, G

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OP13 – 2799: Landau-Kleffner syndrome (LKS), continuous spike and waves during slow-wave sleep syndrome (CSWSS), and Rolandic epilepsy (RE) – A genetic and immunological study von Wright, S, Waters, P, Lesca, G, Rudolf, G, Sanlaville, D, Jacobson, L, Hirsch, E, Labalme, A, Szepetowski, P, Vincent, A

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Next-generation sequencing allows a diagnostic yield of 23.7% in monogenic epilepsies von Lesca, G, Labalme, A, Mignot, C, Chatron, N, Van de Velde Boermans, L, des Portes, V, Bogoin, J, Ville, D, de Belescize, J, Nougues, M.C, Doummar, D, Afenjar, A, Poulat, A.L, Panagiotakaki, E, Valence, S, Arzimanoglou, A, Heron, D, Leguern, E, Sanlaville, D, Nava, C

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Small animal image-guided radiotherapy: A new era for preclinical studies von Delpon, G, Frelin-Labalme, A-M, Heinrich, S, Beaudouin, V, Noblet, C, Begue, M, Le Deroff, C, Pouzoulet, F, Chiavassa, S

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PD-0897 In vitro dosimetry for biological effectiveness assessment of targeted-alpha-therapy von Doudard, A., Corroyer-Dulmont, A., Jaudet, C., Bernaudin, M., Valable, S., Ledoux, X., Frelin-Labalme, A.

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