未登录 Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 分类交配和亲本遗传相关性有助于可变表达变体的致病性 Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh 分享 收藏
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy Grange, Laura J.; Reynolds, John J.; Ullah, Farid; Isidor, Bertrand; Shearer, Robert F.; Latypova, Xenia; Baxley, Ryan M.; Oliver, Antony W.; Ganesh, Anil; Cooke, Sophie L.; Jhujh, Satpal S.; McNee, Gavin S.; Hollingworth, Robert; Higgs, Martin R.; Natsume, Toyoaki; Khan, Tahir; Martos-Moreno, Gabriel A.; Chupp, Sharon; Mathew, Christopher G.; Parry, David; Simpson, Michael A.; Nahavandi, Nahid; Yuksel, Zafer; Drasdo, Mojgan; Kron, Anja; Vogt, Petra; Jonasson, Annemarie; Seth, Saad Ahmed; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W.; Stegmann, Alexander P. A.; Kanemaki, Masato; Josifova, Dragana; Uchiyama, Yuri; Oh, Yukiko; Morimoto, Akira; Osaka, Hitoshi; Ammous, Zineb; Argente, Jesus; Matsumoto, Naomichi; Stumpel, Constance T. R. M.; Taylor, Alexander M. R.; Jackson, Andrew P.; Bielinsky, Anja-Katrin; Mailand, Niels; Le Caignec, Cedric; Davis, Erica E.; Stewart, Grant S. 分享 收藏
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder Latypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand 分享 收藏
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features Palmer, Elizabeth E.; Carroll, Renee; Shaw, Marie; Kumar, Raman; Minoche, Andre E.; Leffler, Melanie; Murray, Lucinda; Macintosh, Rebecca; Wright, Dale; Troedson, Chris; McKenzie, Fiona; Townshend, Sharron; Ward, Michelle; Nawaz, Urwah; Ravine, Anja; Runke, Cassandra K.; Thorland, Erik C.; Hummel, Marybeth; Foulds, Nicola; Pichon, Olivier; Isidor, Bertrand; Le Caignec, Cedric; Demeer, Benedicte; Andrieux, Joris; Albarazi, Salam Hadah; Bye, Ann; Sachdev, Rani; Kirk, Edwin P.; Cowley, Mark J.; Field, Mike; Gecz, Jozef 分享 收藏
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 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 分享 收藏
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect Nizon, Mathilde; Laugel, Vincent; Flanigan, Kevin M.; Pastore, Matthew; Waldrop, Megan A.; Rosenfeld, Jill A.; Marom, Ronit; Xiao, Rui; Gerard, Amanda; Pichon, Olivier; Le Caignec, Cedric; Gerard, Marion; Dieterich, Klaus; Cho, Megan Truitt; McWalter, Kirsty; Hiatt, Susan; Thompson, Michelle L.; Bezieau, Stephane; Wadley, Alexandrea; Wierenga, Klaas J.; Egly, Jean-Marc; Isidor, Bertrand 分享 收藏
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders Vincent, Marie; Karolak, Justyna A.; Deutsch, Gail; Gambin, Tomasz; Popek, Edwina; Isidor, Bertrand; Szafranski, Przemyslaw; Le Caignec, Cedric; Stankiewicz, Pawel 分享 收藏
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature Le Caignec, Cedric; Ory, Benjamin; Lamoureux, Franc Comma Ois; O'Donohue, Marie-Francoise; Orgebin, Emilien; Lindenbaum, Pierre; Teletchea, Stephane; Saby, Manon; Hurst, Anna; Nelson, Katherine; Gilbert, Shawn R.; Wilnai, Yael; Zeitlin, Leonid; Segev, Eitan; Tesfaye, Robel; Nizon, Mathilde; Cogne, Benjamin; Bezieau, Stephane; Geoffroy, Loic; Hamel, Antoine; Mayrargue, Emmanuelle; de Courtivron, Benoit; Decock-Giraudaud, Aliette; Charrier, Celine; Pichon, Olivier; Retiere, Christelle; Redon, Richard; Pepler, Alexander; McWalter, Kirsty; Da Costa, Lydie; Toutain, Annick; Gleizes, Pierre-Emmanuel; Baud'huin, Marc; Isidor, Bertrand 分享 收藏
Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect (June, 10.1038/S41436-019-0557-3, 2019) Nizon, Mathilde; Laugel, Vincent; Flanigan, Kevin M.; Pastore, Matthew; Waldrop, Megan A.; Rosenfeld, Jill A.; Marom, Ronit; Xiao, Rui; Gerard, Amanda; Pichon, Olivier; Le Caignec, Cedric; Gerard, Marion; Dieterich, Klaus; Cho, Megan Truitt; McWalter, Kirsty; Hiatt, Susan; Thompson, Michelle L.; Bezieau, Stephane; Wadley, Alexandrea; Wierenga, Klaas J.; Egly, Jean-Marc; Isidor, Bertrand 分享 收藏
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster Le Caignec, Cedric; Pichon, Olivier; Briand, Annaig; de Courtivron, Benoit; Bonnard, Christian; Lindenbaum, Pierre; Redon, Richard; Schluth-Bolard, Caroline; Diguet, Flavie; Rollat-Farnier, Pierre-Antoine; Sanchez-Castro, Marta; Vuillaume, Marie-Laure; Sanlaville, Damien; Duboule, Denis; Megarbane, Andre; Toutain, Annick 分享 收藏
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice 估计15Q11.2 BP1-BP2缺失的影响大小及其对神经发育症状的贡献: 实践建议 Jonch, Aia Elise; Douard, Elise; Moreau, Clara; Van Dijck, Anke; Passeggeri, Marzia; Kooy, Frank; Puechberty, Jacques; Campbell, Carolyn; Sanlaville, Damien; Lefroy, Henrietta; Richetin, Sonia; Pain, Aurelie; Genevieve, David; Kini, Usha; Le Caignec, Cedric; Lespinasse, James; Skytte, Anne-Bine; Isidor, Bertrand; Zweier, Christiane; Caberg, Jean-Hubert; Delrue, Marie-Ange; Moller, Rikke Steensbjerre; Bojesen, Anders; Hjalgrim, Helle; Brasch-Andersen, Charlotte; Lemyre, Emmanuelle; Ousager, Lilian Bomme; Jacquemont, Sebastien; Andrieux, Joris; Barnicoat, Angela; Blanchet, Patricia; Blesson, Sophie; Butschi, Florence Niel; Campeau, Philippe M.; Chelloug, Nora; Debray, Francois-Guillaume; Fellmann, Florence; Ferrarini, Alessandra; Gibbons, Richard; Gregersen, Pernille Axel; Hoyer, Juliane; Huffmeier, Ulrike; Kjelgaard, Ditte; Krumbiegel, Mandy; Lebon, Sebastien; Lesca, Gaetan; Marignier, Stephanie; Mercier, Sandra; Michaud, Jacques; Mitchell, Grant; Mortemousque, Isabelle; Moller, Rikke S.; Nizon, Mathilde; Pierquin, Genevieve; Sorensen, Kristina Pilekaer; Price, Sue; Pujol, Pascal H.; Ramaekers, Vincent; Raynaud, Martine; Reis, Andre; Rossi, Massimiliano; Sarda, Pierre; Stanzial, Franco; Stewart, Helen; Svaneby, Dea; Theil, Christian T.; Till, Marianne; Trakadis, Yannis; Ville, Dorothee; Vonwill, Sandrine; Wilkie, Andrew; Wiessner, Antje 分享 收藏
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Fountain, Michael D.; Oleson, David S.; Rech, Megan E.; Segebrecht, Lara; Hunter, Jill, V; McCarthy, John M.; Lupo, Philip J.; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A.; Isidor, Bertrand; Le Caignec, Cedric; Saenz, Margarita S.; Pedersen, Robert C.; Morgan, Thomas M.; Pfotenhauer, Jean P.; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L.; Patel, Ankita; Krantz, Ian D.; Raible, Sarah E.; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Milian, Francisca; Wentzensen, Ingrid M.; Person, Richard E.; Kury, Sebastien; Bezieau, Stephane; Uguen, Kevin; Ferec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D.; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L.; Taft, Ryan J.; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F.; Horn, Denise; Spillmann, Rebecca C.; Pena, Loren; Wierzba, Jolanta; Strom, Tim M.; Parenti, Ilaria; Kaiser, Frank J.; Ehmke, Nadja; Schaaf, Christian P. 分享 收藏
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert-Desurmont, Stephanie; Bardel, Claire; Buisine, Marie-Pierre; Calpena, Eduardo; Capri, Yline; Galbany, Jordi Corominas; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Levy, Jonathan; Lecoquierre, Francois; Lindenbaum, Pierre; Pichon, Olivier; Rollat-Farnier, Pierre-Antoine; Simonet, Thomas; Saugier-Veber, Pascale; Tabet, Anne-Claude; Toutain, Annick; Wilkie, Andrew O. M.; Lesca, Gaetan; Sanlaville, Damien; Nicolas, Gael; Schluth-Bolard, Caroline 分享 收藏
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases Blackburn, Patrick R.; Zepeda-Mendoza, Cinthya J.; Kruisselbrink, Teresa M.; Schimmenti, Lisa A.; Garcia-Minaur, Sixto; Palomares, Maria; Nevado, Julian; Mori, Maria A.; Le Meur, Guylene; Klee, Eric W.; Le Caignec, Cedric; Lapunzina, Pablo; Isidor, Bertrand; Babovic-Vuksanovic, Dusica 分享 收藏
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Pizzo, Lucilla; Jensen, Matthew; Polyak, Andrew; Rosenfeld, Jill A.; Mannik, Katrin; Krishnan, Arjun; McCready, Elizabeth; Pichon, Olivier; Le Caignec, Cedric; Van Dijck, Anke; Pope, Kate; Voorhoeve, Els; Yoon, Jieun; Stankiewicz, Pawel; Cheung, Sau Wai; Pazuchanics, Damian; Huber, Emily; Kumar, Vijay; Kember, Rachel L.; Mari, Francesca; Curro, Aurora; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Luana; Vincent, Marie; Nizon, Mathilde; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Martin-Coignard, Dominique; Mosca-Boidron, Anne-Laure; Caberg, Jean-Hubert; Bucan, Maja; Zeesman, Susan; Nowaczyk, Malgorzata J. M.; Lefebvre, Mathilde; Faivre, Laurence; Callier, Patrick; Skinner, Cindy; Keren, Boris; Perrine, Charles; Prontera, Paolo; Marle, Nathalie; Renieri, Alessandra; Reymond, Alexandre; Kooy, R. Frank; Isidor, Bertrand; Schwartz, Charles; Romano, Corrado; Sistermans, Erik; Amor, David J.; Andrieux, Joris; Girirajan, Santhosh 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
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway Karolak, Justyna A.; Vincent, Marie; Deutsch, Gail; Gambin, Tomasz; Cogne, Benjamin; Pichon, Olivier; Vetrini, Francesco; Mefford, Heather C.; Dines, Jennifer N.; Golden-Grant, Katie; Dipple, Katrina; Freed, Amanda S.; Leppig, Kathleen A.; Dishop, Megan; Mowat, David; Bennetts, Bruce; Gifford, Andrew J.; Weber, Martin A.; Lee, Anna F.; Boerkoel, Cornelius F.; Bartell, Tina M.; Ward-Melver, Catherine; Besnard, Thomas; Petit, Florence; Bache, Iben; Tumer, Zeynep; Denis-Musquer, Marie; Joubert, Madeleine; Martinovic, Jelena; Beneteau, Claire; Molin, Arnaud; Carles, Dominique; Andre, Gwenaelle; Bieth, Eric; Chassaing, Nicolas; Devisme, Louise; Chalabreysse, Lara; Pasquier, Laurent; Secq, Veronique; Don, Massimiliano; Orsaria, Maria; Missirian, Chantal; Mortreux, Jeremie; Sanlaville, Damien; Pons, Linda; Kury, Sebastien; Bezieau, Stephane; Liet, Jean-Michel; Joram, Nicolas; Bihouee, Tiphaine; Scott, Daryl A.; Brown, Chester W.; Scaglia, Fernando; Tsai, Anne Chun-Hui; Grange, Dorothy K.; Phillips, John A., III; Pfotenhauer, Jean P.; Jhangiani, Shalini N.; Gonzaga-Jauregui, Claudia G.; Chung, Wendy K.; Schauer, Galen M.; Lipson, Mark H.; Mercer, Catherine L.; van Haeringen, Arie; Liu, Qian; Popek, Edwina; Akdemir, Zeynep H. Coban; Lupski, James R.; Szafranski, Przemyslaw; Isidor, Bertrand; Le Caignec, Cedric; Stankiewicz, Pawe 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
Parallel derivation of isogenic human primed and naive induced pluripotent stem cells Kilens, Stephanie; Meistermann, Dimitri; Moreno, Diego; Chariau, Caroline; Gaignerie, Anne; Reignier, Arnaud; Lelievre, Yohann; Casanova, Miguel; Vallot, Celine; Nedellec, Steven; Flippe, Lea; Firmin, Julie; Song, Juan; Charpentier, Eric; Lammers, Jenna; Donnart, Audrey; Marec, Nadege; Deb, Wallid; Bihouee, Audrey; Le Caignec, Cedric; Pecqueur, Claire; Redon, Richard; Barriere, Paul; Bourdon, Jeremie; Pasque, Vincent; Soumillon, Magali; Mikkelsen, Tarjei S.; Rougeulle, Claire; Freour, Thomas; David, Laurent 分享 收藏
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