Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype von Coste, T., Aloui, C., Petit, F., Moutton, S., Devisme, L., Wells, C. F., Leboucq, N., Verpillat, P., Yvert, M., Rivier, F., Tournier‐Lasserve, E.

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OC18.02: Exome sequencing during pregnancy for fetuses with unsolved multiple congenital abnormalities: a powerful tool to improve prenatal diagnosis von Bourgon, N., Lefebvre, M., Bruel, A., Them, F. Tran Mau, Garde, A., Moutton, S., Sorlin, A., Delanne, J., Vitobello, A., Thauvin, C.

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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations von Lehman, N., Mazery, A.C., Visier, A., Baumann, C., Lachesnais, D., Capri, Y., Toutain, A., Odent, S., Mikaty, M., Goizet, C., Taupiac, E., Jacquemont, M.L., Sanchez, E., Schaefer, E., Gatinois, V., Faivre, L., Minot, D., Kayirangwa, H., Sang, K.‐H.L.Q., Boddaert, N., Bayard, S., Lacombe, D., Moutton, S., Touitou, I., Rio, M., Amiel, J., Lyonnet, S., Sanlaville, D., Picot, M.C., Geneviève, D.

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Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review von Rhamati, L., Marcolla, A., Guerrot, A.M., Lerosey, Y., Goldenberg, A., Serey-Gaut, M., Rio, M., Cormier Daire, V., Baujat, G., Lyonnet, S., Rubinato, E., Jonard, L., Rondeau, S., Rouillon, I., Couloignier, V., Jacquemont, M.L., Dupin Deguine, D., Moutton, S., Vincent, M., Isidor, B., Ziegler, A., Marie, J.P., Marlin, S.

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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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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features von Moutton, S., Bruel, A.‐L., Assoum, M., Chevarin, M., Sarrazin, E., Goizet, C., Guerrot, A.‐M., Charollais, A., Charles, P., Heron, D., Faudet, A., Houcinat, N., Vitobello, A., Tran‐Mau‐Them, F., Philippe, C., Duffourd, Y., Thauvin‐Robinet, C., Faivre, L.

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In utero seizures revealing dentato‐olivary dysplasia caused by SCN2A mutation von Sauvestre, F., Moutton, S., Badens, C., Broussin, B., Carles, D., Houcinat, N., Lacoste, C., Marguet, F., Pecheux, C., Villard, L., Pelluard, F., Laquerrière, A., André, G.

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Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents von Houcinat, N., Llanas, B., Moutton, S., Toutain, J., Cailley, D., Arveiler, B., Combe, C., Lacombe, D., Rooryck, C.

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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly von Bruel, A.‐L., Thevenon, J., Huet, F., Jean‐Marcais, N., Odent, S., Dubourg, C., Lehalle, D., Tran Mau‐Them, F., Philippe, C., Moutton, S., Houcinat, N., Gay, S., Guibaud, L., Duffourd, Y., Rivière, J.‐B., Faivre, L., Thauvin‐Robinet, C.

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Fetal phenotypes in otopalatodigital spectrum disorders von Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E., Hubert, C., Deves, S., Pilliod, J., Rooryck, C., Abel, C., Le Breton, F., Collardeau-Frachon, S., Cordier, M.P., Delezoide, A.L., Goldenberg, A., Loget, P., Melki, J., Odent, S., Patrier, S., Verloes, A., Viot, G., Blesson, S., Bessières, B., Lacombe, D., Arveiler, B., Goizet, C., Fergelot, P.

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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey von Lefebvre, M., Sanlaville, D., Marle, N., Thauvin-Robinet, C., Gautier, E., Chehadeh, S.E., Mosca-Boidron, A.-L., Thevenon, J., Edery, P., Alex-Cordier, M.-P., Till, M., Lyonnet, S., Cormier-Daire, V., Amiel, J., Philippe, A., Romana, S., Malan, V., Afenjar, A., Marlin, S., Chantot-Bastaraud, S., Bitoun, P., Heron, B., Piparas, E., Morice-Picard, F., Moutton, S., Chassaing, N., Vigouroux-Castera, A., Lespinasse, J., Manouvrier-Hanu, S., Boute-Benejean, O., Vincent-Delorme, C., Petit, F., Meur, N.L., Marti-Dramard, M., Guerrot, A.-M., Goldenberg, A., Redon, S., Ferrec, C., Odent, S., Caignec, C.L., Mercier, S., Gilbert-Dussardier, B., Toutain, A., Arpin, S., Blesson, S., Mortemousque, I., Schaefer, E., Martin, D., Philip, N., Sigaudy, S., Busa, T., Missirian, C., Giuliano, F., Benailly, H.K., Kien, P.K.V., Leheup, B., Benneteau, C., Lambert, L., Caumes, R., Kuentz, P., François, I., Heron, D., Keren, B., Cretin, E., Callier, P., Julia, S., Faivre, L.

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Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates von Szenker-Ravi, Emmanuelle, Ott, Tim, Khatoo, Muznah, Moreau de Bellaing, Anne, Goh, Wei Xuan, Chong, Yan Ling, Beckers, Anja, Kannesan, Darshini, Louvel, Guillaume, Anujan, Priyanka, Ravi, Vydianathan, Bonnard, Carine, Moutton, Sébastien, Schoen, Patric, Fradin, Mélanie, Colin, Estelle, Megarbane, André, Daou, Linda, Chehab, Ghassan, Di Filippo, Sylvie, Rooryck, Caroline, Deleuze, Jean-François, Boland, Anne, Arribard, Nicolas, Eker, Rukiye, Tohari, Sumanty, Ng, Alvin Yu-Jin, Rio, Marlène, Lim, Chun Teck, Eisenhaber, Birgit, Eisenhaber, Frank, Venkatesh, Byrappa, Amiel, Jeanne, Crollius, Hugues Roest, Gordon, Christopher T., Gossler, Achim, Roy, Sudipto, Attie-Bitach, Tania, Blum, Martin, Bouvagnet, Patrice, Reversade, Bruno

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DLG4-related synaptopathy: a new rare brain disorder von Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

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Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases von Colin, E, Duffourd, Y, Callier, P, Tisserant, E, Besnard, T, Goldenberg, A, Cogne, B, Isidor, B, Sorlin, A, Moutton, S, Delanne, J, Bruel, Al, Mau-Them, Ft, Denomme-Pichon, As, Fradin, M, Dubourg, C, Gorce, M, El Chehadeh, S, Debray, Fg, Fenzy, Md, Uguen, K, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Sanlaville, D, Philippe, C, Thauvin-Robinet, C, Faivre, L, Vitobello, A

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In utero seizures revealing dentato‐olivary dysplasia caused by SCN 2A mutation von Sauvestre, F., Moutton, S., Badens, C., Broussin, B., Carles, D., Houcinat, N., Lacoste, C., Marguet, F., Pecheux, C., Villard, L., Pelluard, F., Laquerrière, A., André, G.

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Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes von Duffourd, Y., Tisserant, E., Plagos, A., Callier, P., Tran-Them, F. Mau, Bruel, A., Denomme-Pichon, A., Philippe, C., Isidor, B., Heide, S., Afenjar, A., Rodriguez, D., Mignot, C., Heron, D., Vincent, M., Charles, P., Moutton, S., Jean, N., Odent, S., Dubourg, C., Faudet, A., Keren, B., Cogne, B., Boland, A., Olaso, R., Thauvin, C., Faivre, L., Deleuze, Jean-Francois, Vitobello, A.

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Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations von Vitobello, A., Mau-Them, F. T., Bruel, A. L., Duffourd, Y., Tisserant, E., Callier, P., Moutton, S., Nambot, S., Lehalle, D., Jean-Marcais, N., Delanne, J., Racine, C., Thevenon, J., Poe, C., Jouan, T., Chevarin, M., Willems, M., Coubes, C., Genevieve, D., Houcinat, N., Masurel-Paulet, A., Mosca-Boidron, A., Sorlin, A., Isidor, Bertrand, Heide, S., Afenjar, A., Rodriguez, D., Mignot, C., Heron, D., Vincent, M., Charles, P., Odent, S., Dubourg, C., Faudet, A., Keren, B., Cogné, Benjamin, Boland, Anne, Olaso, Robert, Philippe, C., Deleuze, Jean-François, Faivre, L., Thauvin-Robinet, C.

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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 von 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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Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95 von Seuma, ARP, Boerrigter, M, Mandrile, G, Pelle, A, Giorgio, E, Lindstrand, A, Johansson, M, Kvarnung, M, Everman, D, Bahrambeigi, V, MacKenzie, A, Morton, J, Ruivenkamp, C, Challman, T, Hurst, A, Hoyer, J, Elmslie, F, Dye, T, Isidor, B, Haldeman-Englert, C, Gomez-Andres, D, Schluter, A, de Man, S, Shieh, J, Prada, C, Moutton, S, Denomme-Pichon, A, Motti, S, Bruel, A, Mau-Them, FT, Reiter, S, van Ravenswaaij-Arts, C, Shaw-Smith, C, Parikh, S, Aldinger, K, Lovgren, A, Rauch, A, Ross, M, Gomez-Puertas, P, de Vries, B, Pujol, A, Tumer, Z

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Road Networks Winter Risk Estimation Using On-Board Uncooled Infrared Camera for Surface Temperature Measurements over Two Lanes von Marchetti, M., Moutton, M., Ludwig, S., Ibos, L., Feuillet, V., Dumoulin, Jean

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