Low Cycle Fatigue of G20Mn5 Cast Steel Relation between Microstructure and Fatigue Life by Bermond, Antonin, Roume, Claire, Stolarz, Jacques, Lenci, Matthieu, Carton, Jean-François, Klocker, Helmut

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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly by Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, de Tayrac, Marie, David, Véronique

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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field by El Malti, Rajae, Liu, Hui, Doray, Bérénice, Thauvin, Christel, Maltret, Alice, Dauphin, Claire, Gonçalves-Rocha, Miguel, Teboul, Michel, Blanchet, Patricia, Roume, Joëlle, Gronier, Céline, Ducreux, Corinne, Veyrier, Magali, Marçon, François, Acar, Philippe, Lusson, Jean-René, Levy, Marilyne, Beyler, Constance, Vigneron, Jacqueline, Cordier-Alex, Marie-Pierre, Heitz, François, Sanlaville, Damien, Bonnet, Damien, Bouvagnet, Patrice

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease by Muller, Jean, Stoetzel, C, Vincent, M. C, Leitch, C. C, Laurier, V, Danse, J. M, Hellé, S, Marion, V, Bennouna-Greene, V, Vicaire, S, Megarbane, A, Kaplan, J, Drouin-Garraud, V, Hamdani, M, Sigaudy, S, Francannet, C, Roume, J, Bitoun, P, Goldenberg, A, Philip, N, Odent, S, Green, J, Cossée, M, Davis, E. E, Katsanis, N, Bonneau, D, Verloes, A, Poch, O, Mandel, J. L, Dollfus, H

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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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Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome by Baala, Lekbir, Audollent, Sophie, Martinovic, Jéléna, Ozilou, Catherine, Babron, Marie-Claude, Sivanandamoorthy, Sivanthiny, Saunier, Sophie, Salomon, Rémi, Gonzales, Marie, Rattenberry, Eleanor, Esculpavit, Chantal, Toutain, Annick, Moraine, Claude, Parent, Philippe, Marcorelles, Pascale, Dauge, Marie-Christine, Roume, Joëlle, Merrer, Martine Le, Meiner, Vardiella, Meir, Karen, Menez, Françoise, Beaufrère, Anne-Marie, Francannet, Christine, Tantau, Julia, Sinico, Martine, Dumez, Yves, MacDonald, Fiona, Munnich, Arnold, Lyonnet, Stanislas, Gubler, Marie-Claire, Génin, Emmanuelle, Johnson, Colin A., Vekemans, Michel, Encha-Razavi, Férechté, Attié-Bitach, Tania

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Growth charts in Kabuki syndrome 1 by Ruault, Valentin, Corsini, Carole, Duflos, Claire, Akouete, Sandrine, Georgescu, Véra, Abaji, Mario, Alembick, Yves, Alix, Eudeline, Amiel, Jeanne, Amouroux, Cyril, Barat‐Houari, Mouna, Baumann, Clarisse, Bonnard, Adeline, Boursier, Guilaine, Boute, Odile, Burglen, Lydie, Busa, Tiffany, Cordier, Marie‐Pierre, Cormier‐Daire, Valérie, Delrue, Marie‐Ange, Doray, Bérénice, Faivre, Laurence, Fradin, Mélanie, Gilbert‐Dussardier, Brigitte, Giuliano, Fabienne, Goldenberg, Alice, Gorokhova, Svetlana, Héron, Delphine, Isidor, Bertrand, Jacquemont, Marie‐Line, Jacquette, Aurélia, Jeandel, Claire, Lacombe, Didier, Le Merrer, Martine, Sang, Kim Hanh Le Quan, Lyonnet, Stanislas, Manouvrier, Sylvie, Michot, Caroline, Moncla, Anne, Moutton, Sébastien, Odent, Sylvie, Pelet, Anna, Philip, Nicole, Pinson, Lucile, Reversat, Julie, Roume, Joëlle, Sanchez, Elodie, Sanlaville, Damien, Sarda, Pierre, Schaefer, Elise, Till, Marianne, Touitou, Isabelle, Toutain, Annick, Willems, Marjolaine, Gatinois, Vincent, Geneviève, David

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online by Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A, Attié-Bitach, Tania

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Mutations in two regions of FLNB result in atelosteogenesis I and III by Farrington-Rock, Claire, Firestein, Marc H., Bicknell, Louise S., Superti-Furga, Andrea, Bacino, Carlos A., Cormier-Daire, Valerie, Le Merrer, Martine, Baumann, Clarisse, Roume, Joelle, Rump, Patrick, Verheij, Joke B.G.M., Sweeney, Elizabeth, Rimoin, David L., Lachman, Ralph S., Robertson, Stephen P., Cohn, Daniel H., Krakow, Deborah

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation by Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A., Attié-Bitach, Tania

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Mutations in two regions of FLNB result in atelosteogenesis I an IIID by Farrington-Rock, Claire, Firestein, Marc H, Bicknell, Louise S, Superti-Furga, Andrea, Bacino, Carlos A, Cormier-Daire, Valerie, Le Merrer, Martine, Baumann, Clarisse, Roume, Joelle, Rump, Patrick, Verheij, Joke BGM, Sweeney, Elizabeth, Rimoin, David L, Lachman, Ralph S, Robertson, Stephen P, Cohn, Daniel H, Krakow, Deborah

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