Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases by Baer, S., Afenjar, A., Smol, T., Piton, A., Gérard, B., Alembik, Y., Bienvenu, T., Boursier, G., Boute, O., Colson, C., Cordier, M.‐P., Cormier‐Daire, V., Delobel, B., Doco‐Fenzy, M., Duban‐Bedu, B., Fradin, M., Geneviève, D., Goldenberg, A., Grelet, M., Haye, D., Heron, D., Isidor, B., Keren, B., Lacombe, D., Lèbre, A.‐S., Lesca, G., Masurel, A., Mathieu‐Dramard, M., Nava, C., Pasquier, L., Petit, A., Philip, N., Piard, J., Rondeau, S., Saugier‐Veber, P., Sukno, S., Thevenon, J., Van‐Gils, J., Vincent‐Delorme, C., Willems, M., Schaefer, E., Morin, G.

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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia by Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

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Oliver-McFarlane syndrome: mutations of PNPLA6 and follow-up of 30 years in two brothers by Jedraszak, G., Roux, N. De, Jobic, F., Desailloud, Rachel, Bony, H., Milazzo, S., Mathieu-Dramard, M., Morin, G.

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Enamel-renal syndrome: identification of two novel non-consanguinous families with mutations in FAM20A gene by Jobic, F., Broca, S. De, Vargas-Poussou, R., Lichtenberger, L., Jedraszak, Guillaume, Mathieu-Dramard, M., Morin, G.

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P1247FLNC pathogenic variants in patients with various cardiomyopathies:prevalence and genotype-phenotype correlations by Ader, F, De Groote, P, Reant, P, Dupin-Deguine, D, Rambaud, C, Khraiche, D, Pruny, J F, Mathieu Dramard, M, Troadec, Y, Gouya, L, Jeunemaitre, X, Van Maldergem, L, Villard, E, Charron, P, Richard, P

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Precocious prenatal phenotype of BHLHA9 duplication: a case report by Morin, G., Celton, Noémie, Dery, T., Gallet, Marlène, Mathieu-Dramard, M., Naepels, P., Copin, H., Gondry, J., Jedraszak, G.

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Cat-Eye Syndrome: Phenotype and Cytogenetic analyses of a cohort of 44 patients from an international collaborative study by Jedraszak, G., Jobic, Florence, Celton, Noémie, Dery, T., Gallet, Marlène, Mathieu-Dramard, M., Copin, H., Liehr, T., Morin, G.

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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management by Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.

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Implication of syndromic cleft genes in non syndromic forms : towards translational phenotypes ? by Demeer, Bénédicte, Basha, M., Boute, O., Mathieu-Dramard, M., van Maldergem, L., Helaers, R., Gbaguidi, C., Revencu, N., Bayet, B., Devauchelle, Bernard, Vikkula, M.

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New intragenic rearrangements in non-Finnish MULIBREY nanism by Jobic, Florence, Morin, G., Vincent-Delorme, C., Cadet, Estelle, Cabry, Rosalie, Celton, Noémie, Dery, T., Copin, H., Mathieu-Dramard, M., Rochette, J., Jedraszak, G.

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SFCE CO-09 - Syndrome CMMR-D : description clinique dans une série française by Lavoine, N., Colas, C., Sebille, G., Cabaret, O., Charpy, C., Frébourg, T., Entz-Werle, N., Wang, Q., Lejeune, S., Leroux, D., Couillault, G., Leverger, G., Fricker, J.P., Guimbaud, R., Mathieu-Dramard, M., Bourdeaut, F., Muleris, M., Caron, O., Brugières, L.

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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disab... by Schluth-Bolard, C., Diguet, F., Rollat-Farnier, P. A., Amiel, J., Belaud-Rotureau, M. A., Benzacken, B., Callier, P., Chatron, N., Collignon, P., Demeer, Bénédicte, Doco-Fenzy, M., Faivre, L., Gilbert-Dussardier, B., Guerrot, A. M., Jaillard, S., Keren, B., Kremer, V., Lacombe, D., Lebbar, A., Le Caignec, C., Lespinasse, J., Malan, V., Mathieu-Dramard, M., Missirian, C., Moncla, A., Odent, S., Pebrel-Richard, C., Paquis, V., Portnoi, M. F., Puechberty, J., Rooryck-Thambo, C., Satre, V., Tabet, A. C., Touraine, R., Toutain, A., Vekemans, M., Verloes, A., Edery, P., Sanlaville, D.

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FLNC mutations in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations by Ader, F., De Groote, P., Reant, P., Rooryck-Thambo, C., Dupin Deguine, D., Rambaud, C., Khraiche, D., Perret, C., Pruny, J.F., Mathieu Dramard, M., Gerard, M., Troadec, Y., Gouya, L., Jeunemaitre, X., Van Maldergem, L., Hagège, A., Villard, E., Charron, P., Richard, P.

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A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2 by Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., Moustafa, J. S. El-Sayed, Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioshi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Deixheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.

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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials by Garde, Aurore, Guibaud, Laurent, Goldenberg, Alice, Petit, Florence, Dard, Rodolphe, Roume, Joelle, Mazereeuw‐Hautier, Juliette, Chassaing, Nicolas, Lacombe, Didier, Morice‐Picard, Fanny, Toutain, Annick, Arpin, Stéphanie, Boccara, Olivia, Touraine, Renaud, Blanchet, Patricia, Coubes, Christine, Willems, Marjolaine, Pinson, Lucile, Van Kien, Philippe Khau, Chiaverini, Christine, Giuliano, Fabienne, Alessandri, Jean‐Luc, Mathieu‐Dramard, Michèle, Morin, Gilles, Bursztejn, Anne‐Claire, Mignot, Cyril, Doummar, Diane, Di Rocco, Frederico, Cornaton, Jenny, Nicolas, Claire, Gautier, Elodie, Luu, Maxime, Bardou, Marc, Sorlin, Arthur, Philippe, Christophe, Edery, Patrick, Rossi, Massimiliano, Carmignac, Virginie, Thauvin‐Robinet, Christel, Vabres, Pierre, Faivre, Laurence

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus by JACQUEMONT, Sébastien, REYMOND, Alexandre, THORLEIFSSON, Gudmar, BELFIORE, Marco, BOUQUILLON, Sonia, CAMPION, Dominique, DE LEEUW, Nicole, DE VRIES, Bert B. A, ESKO, Tõnu, FERNANDEZ, Bridget A, FERNANDEZ-ARANDA, Fernando, FERNANDEZ-REAL, José Manuel, ZUFFEREY, Flore, GRATACOS, Mònica, GUILMATRE, Audrey, HOYER, Juliane, JARVELIN, Marjo-Riitta, FRANK KOOY, R, KURG, Ants, LE CAIGNEC, Cédric, MÄNNIK, Katrin, PLATT, Orah S, SANLAVILLE, Damien, HAREWOOD, Louise, VAN HAELST, Mieke M, VILLATORO GOMEZ, Sergi, WALHA, Faida, WU, Bai-Lin, YU, Yongguo, ABOURA, Azzedine, ADDOR, Marie-Claude, ALEMBIK, Yves, ANTONARAKIS, Stylianos E, ARVEILER, Benoît, WALTERS, Robin G, BARTH, Magalie, BEDNAREK, Nathalie, BENA, Frédérique, BERGMANN, Sven, BERI, Mylène, BERNARDINI, Laura, BLAUMEISER, Bettina, BONNEAU, Dominique, BOTTANI, Armand, BOUTE, Odile, KUTALIK, Zoltán, BRUNNER, Han G, CAILLEY, Dorothee, CALLIER, Patrick, CHIESA, Jean, CHRAST, Jacqueline, COIN, Lachlan, COUTTON, Charles, CUISSET, Jean-Marie, CUVELLIER, Jean-Christophe, DAVID, Albert, MARTINET, Danielle, YIPING SHEN, VALSESIA, Armand, BECKMANN, Noam D

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder by Courraud, Jérémie, Chater-Diehl, Eric, Durand, Benjamin, Vincent, Marie, Del Mar Muniz Moreno, Maria, Boujelbene, Imene, Drouot, Nathalie, Genschik, Loréline, Schaefer, Elise, Nizon, Mathilde, Gerard, Bénédicte, Abramowicz, Marc, Cogné, Benjamin, Bronicki, Lucas, Burglen, Lydie, Barth, Magalie, Charles, Perrine, Colin, Estelle, Coubes, Christine, David, Albert, Delobel, Bruno, Demurger, Florence, Passemard, Sandrine, Denommé, Anne-Sophie, Faivre, Laurence, Feger, Claire, Fradin, Mélanie, Francannet, Christine, Genevieve, David, Goldenberg, Alice, Guerrot, Anne-Marie, Isidor, Bertrand, Johannesen, Katrine M, Keren, Boris, Kibæk, Maria, Kuentz, Paul, Mathieu-Dramard, Michèle, Demeer, Bénédicte, Metreau, Julia, Steensbjerre Møller, Rikke, Moutton, Sébastien, Pasquier, Laurent, Pilekær Sørensen, Kristina, Perrin, Laurence, Renaud, Mathilde, Saugier, Pascale, Rio, Marlène, Svane, Joane, Thevenon, Julien, Tran Mau Them, Frédéric, Tronhjem, Cathrine Elisabeth, Vitobello, Antonio, Layet, Valérie, Auvin, Stéphane, Khachnaoui, Khaoula, Birling, Marie-Christine, Drunat, Séverine, Bayat, Allan, Dubourg, Christèle, El Chehadeh, Salima, Fagerberg, Christina, Mignot, Cyril, Guipponi, Michel, Bienvenu, Thierry, Herault, Yann, Thompson, Julie, Willems, Marjolaine, Mandel, Jean-Louis, Weksberg, Rosanna, Piton, Amélie

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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology by Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C, Harewood, Louise, Kosmicki, Jack A, Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M, Alfaiz, Ali Abdullah, van Haelst, Mieke M, Andrieux, Joris, Gusella, James F, Daly, Mark J, Beckmann, Jacques S, Jacquemont, Sébastien, Talkowski, Michael E, Katsanis, Nicholas, Reymond, Alexandre

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A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features by Boudry-Labis, Elise, Demeer, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Mathieu-Dramard, Michèle, Plessis, Ghislaine, George, Alice M, Taylor, Juliet, Aftimos, Salim, Wiemer-Kruel, Adelheid, Kohlhase, Jürgen, Annerén, Göran, Firth, Helen, Simonic, Ingrid, Vermeesch, Joris, Thuresson, Ann-Charlotte, Copin, Henri, Love, Donald R, Andrieux, Joris

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? by Ehret, Julia K, Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P, Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A, Zink, Alexander M

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