CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

por Cullot, Grégoire, Boutin, Julian, Toutain, Jérôme, Prat, Florence, Pennamen, Perrine, Rooryck, Caroline, Teichmann, Martin, Rousseau, Emilie, Lamrissi-Garcia, Isabelle, Guyonnet-Duperat, Véronique, Bibeyran, Alice, Lalanne, Magalie, Prouzet-Mauléon, Valérie, Turcq, Béatrice, Ged, Cécile, Blouin, Jean-Marc, Richard, Emmanuel, Dabernat, Sandrine, Moreau-Gaudry, François, Bedel, Aurélie
Publicado 2019

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

por Curie, Aurore, Brun, Amandine, Cheylus, Anne, Reboul, Anne, Nazir, Tatjana, Bussy, Gérald, Delange, Karine, Paulignan, Yves, Mercier, Sandra, David, Albert, Marignier, Stéphanie, Merle, Lydie, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Mortemousque, Isabelle, Toutain, Annick, Bieth, Eric, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Kong, Jian, Ott, Daniel, Kassai, Behrouz, Hadjikhani, Nouchine, Gollub, Randy L., des Portes, Vincent
Publicado 2016

Surgery in rare bleeding disorders: the prospective MARACHI study

por Rousseau, Florence, Guillet, Benoit, Mura, Thibault, Fournel, Alexandra, Volot, Fabienne, Chambost, Hervé, Suchon, Pierre, Frotscher, Brigit, Biron-Andréani, Christine, Marlu, Raphaël, Hezard, Nathalie, Clayssens, Ségolène, Boissier, Elodie, Blanc-Jouvan, Florence, Chamouni, Pierre, Tieulie, Nathalie, Rugeri, Lucia, Borel-Derlon, Annie, de Raucourt, Emmanuelle, Martin-Toutain, Isabelle, Castet, Sabine, Lebreton, Aurélien, Girault, Stéphane, Helley-Russick, Dominique, D’Oiron, Roseline, Schved, Jean-François, Giansily-Blaizot, Muriel
Publicado 2023

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

por Picard, Véronique, Guitton, Corinne, Thuret, Isabelle, Rose, Christian, Bendelac, Laurence, Ghazal, Kaldoun, Aguilar-Martinez, Patricia, Badens, Catherine, Barro, Claire, Bénéteau, Claire, Berger, Claire, Cathébras, Pascal, Deconinck, Eric, Delaunay, Jacques, Durand, Jean-Marc, Firah, Nadia, Galactéros, Frédéric, Godeau, Bertrand, Jaïs, Xavier, de Jaureguiberry, Jean-Pierre, Le Stradic, Camille, Lifermann, François, Maffre, Robert, Morin, Gilles, Perrin, Julien, Proulle, Valérie, Ruivard, Marc, Toutain, Fabienne, Lahary, Agnès, Garçon, Loïc
Publicado 2019

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

por Donadieu, Jean, Lamant, Marie, Fieschi, Claire, de Fontbrune, Flore Sicre, Caye, Aurélie, Ouachee, Marie, Beaupain, Blandine, Bustamante, Jacinta, Poirel, Hélène A., Isidor, Bertrand, Van Den Neste, Eric, Neel, Antoine, Nimubona, Stanislas, Toutain, Fabienne, Barlogis, Vincent, Schleinitz, Nicolas, Leblanc, Thierry, Rohrlich, Pierre, Suarez, Felipe, Ranta, Dana, Chahla, Wadih Abou, Bruno, Bénédicte, Terriou, Louis, Francois, Sylvie, Lioure, Bruno, Ahle, Guido, Bachelerie, Françoise, Preudhomme, Claude, Delabesse, Eric, Cave, Hélène, Bellanné-Chantelot, Christine, Pasquet, Marlène
Publicado 2018

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

por Lerat, Justine, Magdelaine, Corinne, Roux, Anne‐Françoise, Darnaud, Léa, Beauvais‐Dzugan, Hélène, Naud, Steven, Richard, Laurence, Derouault, Paco, Ghorab, Karima, Magy, Laurent, Vallat, Jean‐Michel, Cintas, Pascal, Bieth, Eric, Arne‐Bes, Marie‐Christine, Goizet, Cyril, Espil‐Taris, Caroline, Journel, Hubert, Toutain, Annick, Urtizberea, Jon Andoni, Boespflug‐Tanguy, Odile, Laffargue, Fanny, Corcia, Philippe, Pasquier, Laurent, Fradin, Mélanie, Napuri, Sylva, Ciron, Jonathan, Boulesteix, Jean‐Marc, Sturtz, Franck, Lia, Anne‐Sophie
Publicado 2019

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

por Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Publicado 2011

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

por Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst
Publicado 2015

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

por Bordet, Céline, Brice, Sandrine, Maupain, Carole, Gandjbakhch, Estelle, Isidor, Bertrand, Palmyre, Aurélien, Moerman, Alexandre, Toutain, Annick, Akloul, Linda, Brehin, Anne-Claire, Sawka, Caroline, Rooryck, Caroline, Schaefer, Elise, Nguyen, Karine, Dupin Deguine, Delphine, Rouzier, Cécile, Billy, Gipsy, Séné, Krystelle, Denjoy, Isabelle, Leheup, Bruno, Planes, Marc, Mazzella, Jean-Michael, Staraci, Stéphanie, Hebert, Mélanie, Le Boette, Elsa, Michon, Claire-Cécile, Babonneau, Marie-Lise, Curjol, Angélique, Bekhechi, Amine, Mansouri, Rafik, Raji, Ibticem, Pruny, Jean-François, Fressart, Véronique, Ader, Flavie, Richard, Pascale, Tezenas du Montcel, Sophie, Gargiulo, Marcela, Charron, Philippe
Publicado 2020

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

por Curie, Aurore, Nazir, Tatjana, Brun, Amandine, Paulignan, Yves, Reboul, Anne, Delange, Karine, Cheylus, Anne, Bertrand, Sophie, Rochefort, Fanny, Bussy, Gérald, Marignier, Stéphanie, Lacombe, Didier, Chiron, Catherine, Cossée, Mireille, Leheup, Bruno, Philippe, Christophe, Laugel, Vincent, De Saint Martin, Anne, Sacco, Silvia, Poirier, Karine, Bienvenu, Thierry, Souville, Isabelle, Gilbert-Dussardier, Brigitte, Bieth, Eric, Kauffmann, Didier, Briot, Philippe, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Rooryck-Thambo, Caroline, Mortemousque, Isabelle, Bobillier-Chaumont, Isabelle, Toutain, Annick, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Freeman, Sonya, Kong, Jian, Hadjikhani, Nouchine, Gollub, Randy L, Roy, Alice, des Portes, Vincent
Publicado 2014

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

por Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane
Publicado 2021

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

por Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Publicado 2017

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

por Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle
Publicado 2020

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

por Prasad, Megana K, Geoffroy, Véronique, Vicaire, Serge, Jost, Bernard, Dumas, Michael, Le Gras, Stéphanie, Switala, Marzena, Gasse, Barbara, Laugel-Haushalter, Virginie, Paschaki, Marie, Leheup, Bruno, Droz, Dominique, Dalstein, Amelie, Loing, Adeline, Grollemund, Bruno, Muller-Bolla, Michèle, Lopez-Cazaux, Séréna, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Beal, Tiphaine, Kaiser, Anne-Sophie, Moog, Ute, Richard, Béatrice, Morrier, Jean-Jacques, Duprez, Jean-Pierre, Odent, Sylvie, Bailleul-Forestier, Isabelle, Rousset, Monique Marie, Merametdijan, Laure, Toutain, Annick, Joseph, Clara, Giuliano, Fabienne, Dahlet, Jean-Christophe, Courval, Aymeric, El Alloussi, Mustapha, Laouina, Samir, Soskin, Sylvie, Guffon, Nathalie, Dieux, Anne, Doray, Bérénice, Feierabend, Stephanie, Ginglinger, Emmanuelle, Fournier, Benjamin, de la Dure Molla, Muriel, Alembik, Yves, Tardieu, Corinne, Clauss, François, Berdal, Ariane, Stoetzel, Corinne, Manière, Marie Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès
Publicado 2016

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

por Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas
Publicado 2017

Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

por Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas
Publicado 2019

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

por Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Publicado 2017

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022