Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients by Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.‐L., Guët, A., Xavier, J., Périsse, D., Cohen, D., Demurger, F., Quélin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., Mignot, C.

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Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly by Lavillaureix, A., Heide, S., Chantot‐Bastaraud, S., Marey, I., Keren, B., Grigorescu, R., Jouannic, J.M., Gelot, A., Whalen, S., Héron, D., Siffroi, J.P.

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Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation by Sousa, C., Carton, I., Jaillard, Sylvie, Cospain, A., Lavillaureix, Alinoë, Nyangoh Timoh, K, Juricic, M., Lavoué, Vincent, Dion, L.

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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting by 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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Recessive inheritance of DISP1 variants in holoprosencephaly spectrum patients by Lavillaureix, A., Dubourg, C., Quelin, C., Keren, B., Whalen, S., Hendriks, Y., Bos, J., David, V., Dupe, V., Odent, S.

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Developmental and symptom profiles in early-onset psychosis by Giannitelli, Marianna, Levinson, Douglas F., Cohen, David, Xavier, Jean, Laurent-Levinson, Claudine

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Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder by den Hoed, J., de Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., Mcwalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.

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Fast genome sequencing in less than 40 days for newborn patients in intensive care unit: a feasibility study allowing diagnosis in 56% of cases in a French hospital network by Denomme-Pichon, A., Vitobello, A., Olaso, Robert, Ziegler, A., Isidor, Bertrand, Jeanne, M., Racine, C., Mau-Them, F. T., Couturier, V., Poë, C., Jouan, T., Boland, Anne, Fin, Bertrand, Garde, A., Prost, A., Garret, P., Tisserant, E., Delanne, J., Gorce, M., Nizon, M., Vincent, M., Moutton, S., Nambot, S., Capri, Y., van Gils, J., Busa, T., Sigaudy, S., Fradin, M., Lavillaureix, A., Rollier, P., Pasquier, L., Barth, M., Bruel, A., Bonneau, D., Toutain, A., Philippe, C., Duffourd, Y., Callier, P., Deleuze, Jean-François, Faivre, L., Thauvin-Robinet, C., Sorlin, A.

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Une nouvelle étiologie complexe d’insuffisance surrénale : le NGLY1 CDDG by Lefèvre, C., Lavillaureix, A., Faoucher, M., Abeille, I., Maubert, M.A., Plotton, I., Roucher-Boulez, F.

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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders by Mitra, Ileena, Lavillaureix, Alinoë, Yeh, Erika, Traglia, Michela, Tsang, Kathryn, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A

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Pleiotropic Mechanisms Indicated for Sex Differences in Autism by Mitra, Ileena, Tsang, Kathryn, Ladd-Acosta, Christine, Croen, Lisa A, Aldinger, Kimberly A, Hendren, Robert L, Traglia, Michela, Lavillaureix, Alinoë, Zaitlen, Noah, Oldham, Michael C, Levitt, Pat, Nelson, Stanley, Amaral, David G, Hertz-Picciotto, Irva, Fallin, M Daniele, Weiss, Lauren A

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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network by Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, Thauvin-Robinet, Christel

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Overlapping Phenotypes Associated With CYP24A1 , SLC34A1 , and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D by Molin, Arnaud, Lemoine, Sandrine, Kaufmann, Martin, Breton, Pierre, Nowoczyn, Marie, Ballandonne, Céline, Coudray, Nadia, Mittre, Hervé, Richard, Nicolas, Ryckwaert, Amélie, Lavillaureix, Alinoe, Jones, Glenville, Bacchetta, Justine, Kottler, Marie-Laure

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Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype by Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui, Varoona, Assoumani, Jessica, Van Maldergem, Lionel, Piton, Amélie, Gérard, Bénédicte, Tran Mau‐Them, Frédéric, Bruel, Ange‐Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Mélanie, Lavillaureix, Alinoë

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Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases by Mary, Laura, Lavillaureix, Alinoë, Perrot, Adélie, Loget, Philippe, Launay, Erika, Leborgne, Anne-Sophie, Demurger, Florence, Fradin, Mélanie, Le Bouar, Gwenaelle, Quélin, Chloé, Dubourg, Christèle, Pasquier, Laurent, Odent, Sylvie, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie

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Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing by Cospain, Auriane, Dubourg, Christèle, Gastineau, Swellen, Pichard, Samia, Gandemer, Virginie, Bonneau, Jacinthe, de Tayrac, Marie, Moreau, Caroline, Odent, Sylvie, Pasquier, Laurent, Damaj, Lena, Lavillaureix, Alinoë

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Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities by Lavillaureix, Alinoë, Foulon, Gauthier, Launay, Erika, Belaud-Rotureau, Marc-Antoine, Thibault, Ronan, Lambe, Cécile, Aussel, Dominique, Pasquier, Laurent, Odent, Sylvie, Arnaud, Alexis, Habonimana, Edouard, Dabadie, Alain, Jaillard, Sylvie

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction by den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.

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Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers by Rouen, Alexandre, Lavillaureix, Alinoë, Hyon, Capucine, Heide, Solveig, Clède, Sylvain, Balet, Richard, Kott, Esther, Cassuto, Nino Guy, Siffroi, Jean-Pierre

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A Phase II double-blind multi-center, placebocontrolled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary... by Luu, Maxime, Maurer, Agnes, Canaud, Guillaume, Rega, Adelaïde, Guibaud, Laurent, Boddaert, Nathalie, KHAU VAN KIEN, Philippe, Petit, Florence, Colin, Estelle, Demeer, Bénédicte, Francannet, Christine, Boccara, Olivia, Lavillaureix, Alinoe, Maruani, Anabel, Espitalier, Aurélie, Fleck, Camille, Cransac-Miet, Amélie, Carpentier, Maud, Charligny, Julie, Bahi-Buisson, Nadia, Bardou, Marc, Faivre, Laurence

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