Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder von Krupp, Deidre R., Barnard, Rebecca A., Duffourd, Yannis, Evans, Sara A., Mulqueen, Ryan M., Bernier, Raphael, Rivière, Jean-Baptiste, Fombonne, Eric, O’Roak, Brian J.

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TET2 Inactivation Results in Pleiotropic Hematopoietic Abnormalities in Mouse and Is a Recurrent Event during Human Lymphomagenesis von Quivoron, Cyril, Couronné, Lucile, Della Valle, Véronique, Lopez, Cécile K., Plo, Isabelle, Wagner-Ballon, Orianne, Do Cruzeiro, Marcio, Delhommeau, Francois, Arnulf, Bertrand, Stern, Marc-Henri, Godley, Lucy, Opolon, Paule, Tilly, Hervé, Solary, Eric, Duffourd, Yannis, Dessen, Philippe, Merle-Beral, Hélène, Nguyen-Khac, Florence, Fontenay, Michaëla, Vainchenker, William, Bastard, Christian, Mercher, Thomas, Bernard, Olivier A.

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Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants von Lecoquierre, François, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange-Line, Urteaga, Benoit, Coubes, Christine, Garret, Philippine, Nambot, Sophie, Chevarin, Martin, Jouan, Thibaud, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Philippe, Christophe, Sorlin, Arthur, Faivre, Laurence, Thauvin-Robinet, Christel

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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery von Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B

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BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders von Damm, Frederik, Chesnais, Virginie, Nagata, Yasunobu, Yoshida, Kenichi, Scourzic, Laurianne, Okuno, Yusuke, Itzykson, Raphael, Sanada, Masashi, Shiraishi, Yuichi, Gelsi-Boyer, Véronique, Renneville, Aline, Miyano, Satoru, Mori, Hiraku, Shih, Lee-Yung, Park, Sophie, Dreyfus, François, Guerci-Bresler, Agnes, Solary, Eric, Rose, Christian, Cheze, Stéphane, Prébet, Thomas, Vey, Norbert, Legentil, Marion, Duffourd, Yannis, de Botton, Stéphane, Preudhomme, Claude, Birnbaum, Daniel, Bernard, Olivier A., Ogawa, Seishi, Fontenay, Michaela, Kosmider, Olivier

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Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected von Montillot, Charlotte, Skutunova, Emilia, Ayushma, Dubied, Morgane, Lahmar, Adam, Nguyen, Sylvie, Peerally, Benazir, Prin, Fabrice, Duffourd, Yannis, Thauvin-Robinet, Christel, Duplomb, Laurence, Wang, Heng, Ansar, Muhammad, Faivre, Laurence, Navarro, Nicolas, Minocha, Shilpi, Collins, Stephan C, Yalcin, Binnaz

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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes von Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius-Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan

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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitse... von Cappuccio, Gerarda, Sayou, Camille, Tanno, Pauline Le, Tisserant, Emilie, Bruel, Ange-Line, Kennani, Sara El, Sá, Joaquim, Low, Karen J., Dias, Cristina, Havlovicová, Markéta, Hančárová, Miroslava, Eichler, Evan E., Devillard, Françoise, Moutton, Sébastien, Van-Gils, Julien, Dubourg, Christèle, Odent, Sylvie, Gerard, Bénédicte, Piton, Amélie, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Firth, Helen, Metcalfe, Kay, Moh, Anna, Chapman, Kimberly A., Aref-Eshghi, Erfan, Kerkhof, Jennifer, Torella, Annalaura, Nigro, Vincenzo, Perrin, Laurence, Piard, Juliette, Le Guyader, Gwenaël, Jouan, Thibaud, Thauvin-Robinet, Christel, Duffourd, Yannis, George-Abraham, Jaya K., Buchanan, Catherine A., Williams, Denise, Kini, Usha, Wilson, Kate, Sousa, Sérgio B., Hennekam, Raoul C. M., Sadikovic, Bekim, Thevenon, Julien, Govin, Jérôme, Vitobello, Antonio, Brunetti-Pierri, Nicola

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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome von Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste

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GM3 synthase deficiency in non-Amish patients von Heide, Solveig, Jacquemont, Marie-Line, Cheillan, David, Renouil, Michel, Tallot, Marilyn, Schwartz, Charles E., Miquel, Juliette, Bintner, Marc, Rodriguez, Diana, Darcel, Françoise, Buratti, Julien, Haye, Damien, Passemard, Sandrine, Gras, Domitille, Perrin, Laurence, Capri, Yline, Gérard, Bénédicte, Piton, Amélie, Keren, Boris, Thauvin-Robinet, Christel, Duffourd, Yannis, Faivre, Laurence, Poe, Charlotte, Pervillé, Anne, Héron, Delphine, Thévenon, Julien, Arnaud, Lionel, LeGuern, Eric, La Selva, Lorita, Vetro, Annalisa, Guerrini, Renzo, Nava, Caroline, Mignot, Cyril

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum von Bruel, Ange-Line, Vitobello, Antonio, Thiffault, Isabelle, Manwaring, Linda, Willing, Marcia, Agrawal, Pankaj B, Bayat, Allan, Kitzler, Thomas M, Brownstein, Catherine A, Genetti, Casie A, Gonzalez-Heydrich, Joseph, Jayakar, Parul, Zyskind, Jacob W, Zhu, Zehua, Vachet, Clemence, Wilson, Gena R, Pruniski, Brianna, Goyette, Anne-Marie, Duffourd, Yannis, Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence

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iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells von Mouka, Aurélie, Arkoun, Brahim, Moison, Pauline, Drévillon, Loïc, Jarray, Rafika, Brisset, Sophie, Mayeur, Anne, Bouligand, Jérôme, Boland-Auge, Anne, Deleuze, Jean-François, Yates, Frank, Lemonnier, Thomas, Callier, Patrick, Duffourd, Yannis, Nitschke, Patrick, Ollivier, Emmanuelle, Bourdin, Arnaud, De Vos, John, Livera, Gabriel, Tachdjian, Gérard, Maouche-Chrétien, Leïla, Tosca, Lucie

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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity von Thomas, Quentin, Gautier, Thierry, Marafi, Dana, Besnard, Thomas, Willems, Marjolaine, Moutton, Sébastien, Isidor, Bertand, Cogné, Benjamin, Conrad, Solène, Tenconi, Romano, Iascone, Maria, Sorlin, Arthur, Masurel, Alice, Dabir, Tabib, Jackson, Adam, Banka, Siddharth, Delanne, Julian, Lupski, James R., Saadi, Nebal Waill, Alkuraya, Fowzan S., Zahrani, Fatema Al, Agrawal, Pankaj B., England, Eleina, Madden, Jill A., Posey, Jennifer E., Burglen, Lydie, Rodriguez, Diana, Chevarin, Martin, Nguyen, Sylvie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Garret, Philippine, Bruel, Ange-Line, Callier, Patrick, Marle, Nathalie, Denomme-Pichon, Anne-Sophie, Duplomb, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel, Govin, Jérôme, Faivre, Laurence, Vitobello, Antonio

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Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study) von Chassagne, Aline, Pélissier, Aurore, Houdayer, Françoise, Cretin, Elodie, Gautier, Elodie, Salvi, Dominique, Kidri, Sarah, Godard, Aurélie, Thauvin-Robinet, Christel, Masurel, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Thevenon, Julien, Lesca, Gaetan, Putoux, Audrey, Cordier, Marie-Pierre, Dupuis-Girod, Sophie, Till, Marianne, Duffourd, Yannis, Rivière, Jean-Baptiste, Joly, Lorraine, Juif, Christine, Putois, Olivier, Ancet, Pierre, Lapointe, Anne-Sophie, Morin, Paulette, Edery, Patrick, Rossi, Massimiliano, Sanlaville, Damien, Béjean, Sophie, Peyron, Christine, Faivre, Laurence

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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests von Thauvin-Robinet, Christel, Thevenon, Julien, Nambot, Sophie, Delanne, Julian, Kuentz, Paul, Bruel, Ange-Line, Chassagne, Aline, Cretin, Elodie, Pelissier, Aurore, Peyron, Chritine, Gautier, Elodie, Lehalle, Daphné, Jean-Marçais, Nolwenn, Callier, Patrick, Mosca-Boidron, Anne-Laure, Vitobello, Antonio, Sorlin, Arthur, Tran Mau-Them, Frédéric, Philippe, Christophe, Vabres, Pierre, Demougeot, Laurent, Poé, Charlotte, Jouan, Thibaud, Chevarin, Martin, Lefebvre, Mathilde, Bardou, Marc, Tisserant, Emilie, Luu, Maxime, Binquet, Christine, Deleuze, Jean-François, Verstuyft, Céline, Duffourd, Yannis, Faivre, Laurence

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Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models von Thiollier, Clarisse, Lopez, Cécile K, Gerby, Bastien, Ignacimouttou, Cathy, Poglio, Sandrine, Duffourd, Yannis, Guégan, Justine, Rivera-Munoz, Paola, Bluteau, Olivier, Mabialah, Vinciane, Diop, M'boyba, Wen, Qiang, Petit, Arnaud, Bauchet, Anne-Laure, Reinhardt, Dirk, Bornhauser, Beat, Gautheret, Daniel, Lecluse, Yann, Landman-Parker, Judith, Radford, Isabelle, Vainchenker, William, Dastugue, Nicole, de Botton, Stéphane, Dessen, Philippe, Bourquin, Jean-Pierre, Crispino, John D, Ballerini, Paola, Bernard, Olivier A, Pflumio, Françoise, Mercher, Thomas

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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed deve... von Tran Mau-Them, Frederic, Moutton, Sebastien, Racine, Caroline, Vitobello, Antonio, Bruel, Ange-Line, Nambot, Sophie, Kushner, Steven A., de Vrij, Femke M. S., Lehalle, Daphné, Jean-Marçais, Nolwenn, Lecoquierre, François, Delanne, Julian, Thevenon, Julien, Poe, Charlotte, Jouan, Thibaut, Chevarin, Martin, Geneviève, David, Willems, Marjolaine, Coubes, Christine, Houcinat, Nada, Masurel-Paulet, Alice, Mosca-Boidron, Anne-Laure, Tisserant, Emilie, Callier, Patrick, Sorlin, Arthur, Duffourd, Yannis, Faivre, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel

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Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study von Binquet, Christine, Lejeune, Catherine, Faivre, Laurence, Bouctot, Marion, Asensio, Marie-Laure, Simon, Alban, Deleuze, Jean-François, Boland, Anne, Guillemin, Francis, Seror, Valérie, Delmas, Christelle, Espérou, Hélène, Duffourd, Yannis, Lyonnet, Stanislas, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Gerard, Bénédicte, Dollfus, Hélène

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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 von Juven, Aurelien, Nambot, Sophie, Piton, Amelie, Jean-Marcais, Nolwenn, Masurel, Alice, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Kuentz, Paul, Philippe, Christophe, Chevarin, Martin, Duffourd, Yannis, Gautier, Elodie, Munnich, Arnold, Rio, Marlene, Rondeau, Sophie, El Chehadeh, Salima, Schaefer, Elise, Gerard, Benedicte, Bouquillon, Sonia, Delorme, Catherine Vincent, Francannet, Christine, Laffargue, Fanny, Gouas, Laetitia, Isidor, Bertrand, Vincent, Marie, Blesson, Sophie, Giuliano, Fabienne, Pichon, Olivier, Le Caignec, Cedric, Journel, Hubert, Perrin-Sabourin, Laurence, Fabre-Teste, Jennifer, Martin, Dominique, Vieville, Gaelle, Dieterich, Klaus, Lacombe, Didier, Denomme-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, Faivre, Laurence

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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability von Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, St-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas

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