The epigenetic control of transposable elements and imprinted genes in newborns is affected by the mode of conception: ART versus spontaneous conception without underlying infertil... von Choux, C, Binquet, C, Carmignac, V, Bruno, C, Chapusot, C, Barberet, J, Lamotte, M, Sagot, P, Bourc'his, D, Fauque, P

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OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway von Bourgon, N., Carmignac, V., Sorlin, A., Duffour, Y., Philippe, C., Thauvin, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P.

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Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway von Bourgon, N., Carmignac, V., Sorlin, A., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P., Tisserand, Emilie, Chevarin, Martin, Delanne, Julian, Jouan, Thibaud, Pöe, Charlotte, Abel, Carine, Allory, Patrick, Amram, Daniel, Attie‐Bitach, Tania, Aziza, Jacqueline, Benevent, Jean‐Baptiste, Bidat, Laurent, Bessières, Bettina, Boussion, Françoise, Cabaret‐Dufour, Anne‐Sophie, Chanoz‐Poulard, Geneviève, Chassaing, Nicolas, Ciorna‐Monferrato, Viorica, Cordier, Anne‐Gaëlle, Cordier, Marie‐Pierre, Cuillier, Fabrice, Doray, Berenice, Encha‐Razavi, Ferechte, Eszto, Marie‐Laure, Bianco, Catherine Fallet, Fernandez, Carla, Ferry, Mathilde, Fichez, Axel, Vequeau, Valérie Goua, Grevent, David, Guichet, Agnès, Laurent, Nicole, Le Gac, Marie‐Pascale, Lefebvre, Mathilde, Letard, Pascaline, Loget, Philippe, Loisel, Didier, Martinovich, Jelena, Masutti, Jean‐Paul, Millischer, Anne‐Elodie, Musizzano, Yuri, Nord, Jean‐François, Perez, Marie‐Josée, Prieur, Fabienne, Proisy, Maia, Quelin, Chloé, Roth, Philippe, Rousseau, Thierry, Salomon, Laurent, Sonigo, Pascale, Spaggiari, Emmanuel, Stempfle, Noëlle, Stirnemann, Julien, Tanteau, Julia, Triau, Stéphane, Vasiljevic, Alexandre, Ville, Yves, Zidane‐Marinnes, Merzouka, Kaltenbach, Sophie, Rivière, Jean‐Baptiste

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Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome von Carmignac, V., Salomon, G., Severino‐Freire, M., Duffourd, Y., Chevarin, M., Vabres, P., Mazereeuw‐Hautier, J.

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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations von Theiler, M., Weibel, L., Christen‐Zaech, S., Carmignac, V., Sorlin, A., Neuhaus, K., Chevarin, M., Thauvin‐Robinet, C., Philippe, C., Faivre, L., Vabres, P., Kuentz, P.

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Expanding the clinical spectrum of mosaic BRAF skin phenotypes von Sorlin, A., Carmignac, V., Amiel, J., Boccara, O., Fraitag, S., Maruani, A., Theiler, M., Weibel, L., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P., Kuentz, P.

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616 Postzygotic mutations of RHOA cause a mosaic neuroectodermal syndrome von Vabres, P., Sorlin, A., Kholmanskikh, S.S., Demeer, B., St-Onge, J., Duffourd, Y., Kuentz, P., Courcet, J., carmignac, v, Bessis, D., Bernard, G., Dobyns, W.B., Faivre, L., Ross, M., Rivière, J.

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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia von Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.

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Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia von Carmignac, V., Dupont, J.‐M., Fierro, R. C., Barberet, J., Bruno, C., Lieury, N., Dulioust, E., Auger, J., Fauque, P.

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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability von Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L

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EM.P.3.02 Intracellular signaling pathway alterations in laminin α2 chain deficient skeletal muscle and brain von Carmignac, V, Durbeej-Hjalt, M

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315 Cerebriform sebaceous nevus is caused by the specific postzygotic FGRF2 p.(Cys382Arg) variation von Kuentz, P., Theiler, M., Carmignac, V., Sorlin, A., Vabres, P.

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Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome von Carmignac, V., Salomon, G., Severino-Freire, M., Duffourd, Y., Chevarin, M., Vabres, P., Mazereeuw-Hautier, J.

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EM.O.1 E3 domain of laminin α1 chain that binds to dystroglycan is not essential for survival and muscle regeneration in laminin α1 chain mediated correction of laminin α2 chain de... von Gawlik, K.I, Carmignac, V, Åkerlund, M, Elamaa, H, Durbeej, M

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LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations von Jordan, M., Carmignac, V., Sorlin, A., Kuentz, P., Philippe, C., Vabres, P., cohort, M.

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... von Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, Isidor, Bertrand

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G.O.7 A homozygous desmin deletion causes an Emery-Dreifuss like recessive myopathy with desmin depletion von Carmignac, V, Sharma, S, Arbogast, S, Fischer, D, Serreri, C, Serria, M, Stoltenburg, G, Maurage, C.A, Herrmann, H, Cuisset, J.M, Bär, H, Ferreiro, A

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782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach von Sorlin, A., Tisserant, Thevenon, J., Carmignac, V., Duffourd, Y., Kuentz, P., Rivière, J., Thauvin-Robinet, C., Faivre, L., Callier, P., Vabres, P.

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794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome von Vabres, P., Sorlin, A., Kholmanskikh, S., Duffourd, Y., Kuentz, P., Carmignac, V., Bessis, D., Dobyns, W., Polubothu, S., Faravelli, F., Kinsler, V., Faivre, L., Ross, M., Rivière, J.

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Germline correction of an epimutation related to Silver-Russell syndrome von Bruno, Céline, Carmignac, Virginie, Netchine, Irène, Choux, Cécile, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel, Le Bouc, Yves, Sagot, Paul, Bourc'his, Déborah, Fauque, Patricia

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