Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting von Soilly, A L, Robert-Viard, C, Besse, C, Bruel, A L, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, M L, Deleuze, J F, Binquet, C, Thauvin-Robinet, C, Lejeune, C

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A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes von Besseau-Ayasse, J., Violle-Poirsier, C., Bazin, A., Gruchy, N., Moncla, A., Girard, F., Till, M., Mugneret, F., Coussement, A., Pelluard, F., Jimenez, M., Vago, P., Portnoï, M. F., Dupont, C., Beneteau, C., Amblard, F., Valduga, M., Bresson, J. L., Carré-Pigeon, F., Le Meur, N., Tapia, S., Yardin, C., Receveur, A., Lespinasse, J., Pipiras, E., Beaujard, M. P., Teboul, P., Brisset, S., Catty, M., Nowak, E., Douet Guilbert, N., Lallaoui, H., Bouquillon, S., Gatinois, V., Joly-Helas, G., Prieur, F., Cartault, F., Martin, D., Kleinfinger, P., Molina Gomes, D., Doco-Fenzy, M., Vialard, F.

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A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes: Prenatal diagnosis of the 22q11.2 deletion of 272 f... von Besseau-Ayasse, J., Violle-Poirsier, C., Bazin, A., Gruchy, N., Moncla, A., Girard, F., Till, M., Mugneret, F., Coussement, A., Pelluard, F., Jimenez, M., Vago, P., Portnoï, M. F., Dupont, C., Beneteau, C., Amblard, F., Valduga, M., Bresson, J. L., Carré-Pigeon, F., Le Meur, N., Tapia, S., Yardin, C., Receveur, A., Lespinasse, J., Pipiras, E., Beaujard, M. P., Teboul, P., Brisset, S., Catty, M., Nowak, E., Douet Guilbert, N., Lallaoui, H., Bouquillon, S., Gatinois, V., Joly-Helas, G., Prieur, F., Cartault, F., Martin, D., Kleinfinger, P., Molina Gomes, D., Doco-Fenzy, M., Vialard, F.

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome von Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., Gavrilova, R.H., Jr, J.M.G., Haack, T.B., Juusola, J., Kant, S.G., Kayani, S., Keren, B., Ketteler, P., Klockner, C., Koopmann, T.T., Kruisselbrink, T.M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R.R., Leduc, M.S., Leonardi, E., Lewis, A.M., Liew, W., Machol, K., Mardini, S., McWalter, K., Mignot, C., McLaughlin, J., Murgia, A., Narayanan, V., Nava, C., Neuser, S., Nizon, M., Ognibene, D., Park, J., Platzer, K., Poirsier, C., Radtke, M., Ramsey, K., Runke, C.K., Sacoto, M.J.G., Scaglia, F., Shinawi, M., Spranger, S., Tan, E.S., Taylor, J., Trentesaux, A.S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R., Babovic-Vuksanovic, D., Zimmermann, M.T., Mathie, A., Klee, E.W.

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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency von Tebani, A, Sudrié-Arnaud, B, Dabaj, I, Torre, S, Domitille, L, Snanoudj, S, Heron, B, Levade, T, Caillaud, C, Vergnaud, S, Saugier-Veber, P, Coutant, S, Dranguet, H, Froissart, R, Al Khouri, M, Alembik, Y, Baruteau, J, Arnoux, J-B, Brassier, A, Brehin, A-C, Busa, T, Cano, A, Chabrol, B, Coubes, C, Desguerre, I, Doco-Fenzy, M, Drenou, B, Elcioglu, NH, Elsayed, S, Fouilhoux, A, Poirsier, C, Goldenberg, A, Jouvencel, P, Kuster, A, Labarthe, F, Lazaro, L, Pichard, S, Rivera, S, Roche, S, Roggerone, S, Roubertie, A, Sigaudy, S, Spodenkiewicz, M, Tardieu, M, Vanhulle, C, Marret, S, Bekri, S

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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting von Soilly, AL, Robert-Viard, C, Besse, C, Bruel, AL, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, ML, Deleuze, JF, Binquet, C, Arpin, S, Blanchet, P, Blesson, S, Boute-Benejean, O, Busa, T, Colin, E, Coubes, C, Devillard, F, Edery, P, El Chehadeh, S, Fradin, M, Goldenberg, A, Guerrot, A-M, Herenger, Y, Houcinat, N, Jean-Marcais, N, Jouk, P. S, Lambert, L, Lavillaureix, A, Legendre, M, Leheup, B, Manouvrier, S, Mercier, S, Moutton, S, Nizon, M, Pasquier, L, Petit, F, Pinson, L, Poirsier, C, Pons, L, Putoux, A, Quelin, C, Renaud, M, Rossi, M, Sorlin, A, Spodenkiewicz, M, Thevenon, J, Toutain, A, Van-Gils, J, Vanlerberghe, C, Verloes, A, Vincent, M, Vincent-Delorme, C, Willems, M, Ziegler, A

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Supplementary Material for: Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome von Barraud, S., Delemer, B., Poirsier-Violle, C., Bouligand, J., Mérol, J.-C., Grange, F., Higel-Chaufour, B., Decoudier, B., Zalzali, M., Dwyer, A.A., Acierno, J.S., Pitteloud, N., Millar, R.P., Young, J.

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