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Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech 解读无智力障碍，自闭症或言语失用症儿童的发展性语言障碍的遗传基础 Ormieres, Clothilde; Lesieur-Sebellin, Marion; Siquier-Pernet, Karine; Delplancq, Geoffroy; Rio, Marlene; Parisot, Melanie; Nitschke, Patrick; Rodriguez-Fontenla, Cristina; Bodineau, Alison; Narcy, Lucie; Schlumberger, Emilie; Cantagrel, Vincent; Malan, Valerie 分享 收藏
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy Crespin, Matis; Siquier-Pernet, Karine; Marzin, Pauline; Bole-Feysot, Christine; Malan, Valerie; Nitschke, Patrick; Hully, Marie; Roux, Charles-Joris; Lemoine, Michel; Rio, Marlene; Boddaert, Nathalie; Courtin, Thomas; Cantagrel, Vincent 分享 收藏
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency Brakta, Charlyne; Tabet, Anne-Claude; Puel, Mathilde; Pacault, Mathilde; Stolzenberg, Marie-Claude; Goudet, Claire; Merger, Marguerite; Reumaux, Heloise; Lambert, Nathalie; Alioua, Najiba; Malan, Valerie; Hanein, Sylvain; Dupin-Deguine, Delphine; Treiner, Emmanuel; Lefevre, Guillaume; Farhat, Meryem-Maud; Luca, Luminita Elena; Hureaux, Marguerite; Li, Hailun; Chelloug, Nora; Dehak, Rabha; Boussion, Simon; Ouachee-Chardin, Marie; Schleinitz, Nicolas; Abou Chahla, Wadih; Barlogis, Vincent; Vely, Frederic; Oksenhendler, Eric; Quartier, Pierre; Pasquet, Marlene; Suarez, Felipe; Bustamante, Jacinta; Neven, Benedicte; Picard, Capucine; Rieux-Laucat, Frederic; Levy, Jonathan; Rosain, Jeremie 分享 收藏
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals Aubert-Mucca, Marion; Huber, Celine; Baujat, Genevieve; Michot, Caroline; Zarhrate, Mohammed; Bras, Marc; Boutaud, Lucile; Malan, Valerie; Attie-Bitach, Tania; Cormier-Daire, Valerie 分享 收藏
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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing Nicolle, Romain; Siquier-Pernet, Karine; Rio, Marlene; Guimier, Anne; Ollivier, Emmanuelle; Nitschke, Patrick; Bole-Feysot, Christine; Romana, Serge; Hastie, Alex; Cantagrel, Vincent; Malan, Valerie 分享 收藏
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis Joosse, Maria E.; Charbit-Henrion, Fabienne; Boisgard, Remy; Raatgeep, Rolien (H) C.; Lindenbergh-Kortleve, Dicky J.; Costes, Lea M. M.; Nugteren, Sandrine; Guegan, Nicolas; Parlato, Marianna; Veenbergen, Sharon; Malan, Valerie; Nowak, Jan K.; Hollink, Iris H. I. M.; Mearin, M. Luisa; Escher, Johanna C.; Cerf-Bensussan, Nadine; Samsom, Janneke N. 分享 收藏
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Significant contribution of intragenic deletions to ARID1B mutation spectrum Gorokhova, Svetlana; Mortreux, Jeremie; Afenjar, Alexandra; Attie-Bitach, Tania; Blanluet, Maud; Cormier-Daire, Valerie; Guerrot, Anne-Marie; Lebre, Anne-Sophie; Malan, Valerie; Nicolas, Gael; Rondeau, Sophie; Philip, Nicole; Saugier-Veber, Pascale; Badens, Catherine; Missirian, Chantal 分享 收藏
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder Munnich, Arnold; Demily, Caroline; Frugere, Lisa; Duwime, Charlyne; Malan, Valerie; Barcia, Giulia; Vidal, Celine; Throo, Emeline; Besmond, Claude; Hubert, Laurence; Roland-Manuel, Gilles; Malen, Jean-Pierre; Ferreri, Melanie; Hanein, Sylvain; Thalabard, Jean-Christophe; Boddaert, Nathalie; Assouline, Moise 分享 收藏
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders 全基因组配对末端测序阐明发育障碍患者平衡染色体重排的功能和表型后果 Schluth-Bolard, Caroline; Diguet, Flavie; Chatron, Nicolas; Rollat-Farnier, Pierre-Antoine; Bardel, Claire; Afenjar, Alexandra; Amblard, Florence; Amiel, Jeanne; Blesson, Sophie; Callier, Patrick; Capri, Yline; Collignon, Patrick; Cordier, Marie-Pierre; Coubes, Christine; Demeer, Benedicte; Chaussenot, Annabelle; Demurger, Florence; Devillard, Francoise; Doco-Fenzy, Martine; Dupont, Celine; Dupont, Jean-Michel; Dupuis-Girod, Sophie; Faivre, Laurence; Gilbert-Dussardier, Brigitte; Guerrot, Anne-Marie; Houlier, Marine; Isidor, Bertrand; Jaillard, Sylvie; Joly-Helas, Geraldine; Kremer, Valerie; Lacombe, Didier; Le Caignec, Cedric; Lebbar, Aziza; Lebrun, Marine; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Malan, Valerie; Mathieu-Dramard, Michele; Masson, Julie; Masurel-Paulet, Alice; Mignot, Cyril; Missirian, Chantal; Morice-Picard, Fanny; Moutton, Sebastien; Nadeau, Gwenael; Pebrel-Richard, Celine; Odent, Sylvie; Paquis-Flucklinger, Veronique; Pasquier, Laurent; Philip, Nicole; Plutino, Morgane; Pons, Linda; Portnoi, Marie-France; Prieur, Fabienne; Puechberty, Jacques; Putoux, Audrey; Rio, Marlene; Rooryck-Thambo, Caroline; Rossi, Massimiliano; Sarret, Catherine; Satre, Veronique; Siffroi, Jean-Pierre; Till, Marianne; Touraine, Renaud; Toutain, Annick; Toutain, Jerome; Valence, Stephanie; Verloes, Alain; Whalen, Sandra; Edery, Patrick; Tabet, Anne-Claude; Sanlaville, Damien 分享 收藏
22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype (vol 8, 146, 2018) Ponson, Laura; Gomot, Marie; Blanc, Romuald; Barthelemy, Catherine; Roux, Sylvie; Munnich, Arnold; Romana, Serge; Aguillon-Hernandez, Nadia; Malan, Valerie; Bonnet-Brilhault, Frederique 分享 收藏
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite Dion, Camille; Roche, Stephane; Laberthonniere, Camille; Broucqsault, Natacha; Mariot, Virginie; Xue, Shifeng; Gurzau, Alexandra D.; Nowak, Agnieszka; Gordon, Christopher T.; Gaillard, Marie-Cecile; El-Yazidi, Claire; Thomas, Morgane; Schlupp-Robaglia, Andree; Missirian, Chantal; Malan, Valerie; Ratbi, Liham; Sefiani, Abdelaziz; Wollnik, Bernd; Binetruy, Bernard; Campana, Emmanuelle Salort; Attarian, Shahram; Bernard, Rafaelle; Nguyen, Karine; Amie, Jeanne; Dumonceaux, Julie; Murphy, James M.; Dejardin, Jerome; Blewitt, Marnie E.; Reversade, Bruno; Robin, Jerome D.; Magdinier, Frederique 分享 收藏
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21 A Randomized Clinical Trial Malan, Valerie; Bussieres, Laurence; Winer, Norbert; Jais, Jean-Philippe; Baptiste, Amandine; Le Lorc'h, Marc; Elie, Caroline; O'Gorman, Neil; Fries, Nicolas; Houfflin-Debarge, Veronique; Sentilhes, Loic; Vekemans, Michel; Ville, Yves; Salomon, Laurent J. 分享 收藏
22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype Ponson, Laura; Gomot, Marie; Blanc, Romuald; Barthelemy, Catherine; Roux, Sylvie; Munnich, Arnold; Romana, Serge; Aguillon-Hernandez, Nadia; Malan, Valerie; Bonnet-Brilhault, Frederique 分享 收藏
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features 进一步描述59名法国男性患者的MECP2重复综合征表型，特别关注形态学和神经学特征 Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christele; Julia, Sophie; Sarret, Catherine; Remerand, Ganaelle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Beri-Dexheimer, Mylene; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valerie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Severine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Francoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Reseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Benedicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Heron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaetan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Veronique; Le Caignec, Cedric; Malan, Valerie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valerie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Des Portes, Vincent; El Chehadeh, Salima 分享 收藏
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance Egloff, Matthieu; Nguyen, Lam-Son; Siquier-Pernet, Karine; Cormier-Daire, Valerie; Baujat, Genevieve; Attie-Bitach, Tania; Bole-Feysot, Christine; Nitschke, Patrick; Vekemans, Michel; Colleaux, Laurence; Malan, Valerie 分享 收藏
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