Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases von 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 von 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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Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort von Lavoine, N, Colas, C, Muleris, M, Bodo, S, Duval, A, Entz-Werle, N, Coulet, F, Cabaret, O, Andreiuolo, F, Charpy, C, Sebille, G, Wang, Q, Lejeune, S, Buisine, M P, Leroux, D, Couillault, G, Leverger, G, Fricker, J P, Guimbaud, R, Mathieu-Dramard, M, Jedraszak, G, Cohen-Hagenauer, O, Guerrini-Rousseau, L, Bourdeaut, F, Grill, J, Caron, O, Baert-Dusermont, S, Tinat, J, Bougeard, G, Frébourg, T, Brugières, L

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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features von Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, Annerén, G

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

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

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P1247FLNC pathogenic variants in patients with various cardiomyopathies:prevalence and genotype-phenotype correlations von 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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Cat-Eye Syndrome: Phenotype and Cytogenetic analyses of a cohort of 44 patients from an international collaborative study von Jedraszak, G., Jobic, Florence, Celton, Noémie, Dery, T., Gallet, Marlène, Mathieu-Dramard, M., Copin, H., Liehr, T., Morin, G.

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

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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management von 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 ? von 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 von 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 von 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... von 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 von 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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Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype von Demeer, Bénédicte, Andrieux, Joris, Receveur, Aline, Morin, Gilles, Petit, Florence, Julia, Sophie, Plessis, Ghislaine, Martin-Coignard, Dominique, Delobel, Bruno, Firth, Helen V, Thuresson, Ann C, Lancodosen, Sandrine, Sjörs, Kerstin, Le Caignec, Cedric, Devriendt, Koenraad, Mathieu-Dramard, M

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A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2 von 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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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 von Walters, RG, Jacquemont, S, Valsesia, A, De Smith, AJ, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, JS, Chevre, JC, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, JL, Boute, O, Holder-Espinasse, M, Cuisset, JM, Lemaitre, MP, Ambresin, AE, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, JL, Le Caignec, C, David, A, Isidor, B, Cordier, MP, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Beri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, EG, Henning, E, Keogh, J, Ellis, RJ, Macdermot, KD, Van Haelst, MM, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, RF, 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, AL, McCarthy, MI, Peltonen, L, Carlsson, L, Jacobson, P, Sjostrom, L, Huang, N, Hurles, ME, O'Rahilly, S, Farooqi, IS, Mannik, K, Jarvelin, MR, Pattou, F, Meyre, D, Walley, AJ, Coin, LJ, Blakemore, AI, Froguel, P, Beckmann, JS

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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome von Vabres, P, Sorlin, A, Kholmanskikh, SS, Demeer, B, St-Onge, J, Duffourd, Y, Kuentz, P, Courcet, J-B, Carmignac, V, Garret, P, Bessis, D, Boute, O, Bron, A, Captier, G, Carmi, E, Devauchelle, B, Genevieve, D, Gondry-Jouet, C, Guibaud, L, Lafon, A, Mathieu-Dramard, M, Thevenon, J, Dobyns, WB, Bernard, G, Polubothu, S, Faravelli, F, Kinsler, VA, Thauvin, C, Faivre, L, Ross, ME, Riviere, J-B

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Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents von Bodo, S., Colas, C., Buhard, O., Collura, A., Tinat, J., Lavoine, N., Guilloux, A., Chalastanis, A., Lafitte, P., Coulet, F., Buisine, M.P., Ilencikova, D., Ruiz-Ponte, C., Kinzel, M., Grandjouan, S., Brems, H.I., Lejeune, S., Blanche, H., Wang, Q., Caron, O., Cabaret, O., Syrcek, M.L., Vidaud, D., Parfait, B., Verloes, A., Knappe, U.J., Soubrier, F., Mortemousque, I., Leis, A., Auclair-Perrossier, J., Frebourg, T., Flejou, J.F., Entz-Werle, N., Leclerc, J., Malka, D., Cohen-Haguenauer, O., Goldberg, Y., Gerdes, A.M., Fedhila, F., Mathieu-Dramard, M., Lin, R.H., Wafaa, B., Gauthier-Villars, M., Bourdeaut, F., Sheridan, E., Vasen, H., Brugieres, L., Wimmer, K., Muleris, M., Duva, A.

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