未登录 Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome Courraud, Jeremie; Engel, Camille; Quartier, Angelique; Drouot, Nathalie; Houessou, Ursula; Plassard, Damien; Sorlin, Arthur; Brischoux-Boucher, Elise; Gouy, Evan; Van Maldergem, Lionel; Rossi, Massimiliano; Lesca, Gaetan; Edery, Patrick; Putoux, Audrey; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Atallah, Isis; Kalscheuer, Vera M.; Mandel, Jean-Louis; Piton, Amelie 分享 收藏
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models Meziane, Hamid; Birling, Marie-Christine; Wendling, Olivia; Leblanc, Sophie; Dubos, Aline; Selloum, Mohammed; Pavlovic, Guillaume; Sorg, Tania; Kalscheuer, Vera M.; Billuart, Pierre; Laumonnier, Frederic; Chelly, Jamel; van Bokhoven, Hans; Herault, Yann 分享 收藏
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition 功能和临床研究揭示了CLCN4-related神经发育状况的病理生理复杂性 Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. 分享 收藏
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X 人类X染色体单基因疾病相关基因的系统分析和预测 Leitao, Elsa; Schroeder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnes; Kuehnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gerard, Benedicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Benedicte; Villard, Laurent; Stegmann, Alexander P. A.; Vanhoutte, Els K.; Verdonschot, Job A. J.; Kaiser, Frank J.; Mau-Them, Frederic Tran; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G. M.; Argilli, Emanuela; Sherr, Elliott H.; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Heron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M.; Horsthemke, Bernhard; Piton, Amelie; Depienne, Christel 分享 收藏
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Hi-c与短和长读基因组测序的整合揭示了种系重排基因组的结构 Schoepflin, Robert; Melo, Uira Souto; Moeinzadeh, Hossein; Heller, David; Laupert, Verena; Hertzberg, Jakob; Holtgrewe, Manuel; Alavi, Nico; Klever, Marius-Konstantin; Jungnitsch, Julius; Comak, Emel; Tuerkmen, 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 分享 收藏
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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases Melo, Uira Souto; Schoepflin, Robert; Acuna-Hidalgo, Rocio; Mensah, Martin Atta; Fischer-Zirnsak, Bjoern; Holtgrewe, Manuel; Klever, Marius-Konstantin; Tuerkmen, Seval; Heinrich, Verena; Pluym, Ilina Datkhaeva; Matoso, Eunice; de Sousa, Sergio Bernardo; Louro, Pedro; Huelsemann, Wiebke; Cohen, Monika; Dufke, Andreas; Latos-Bielenska, Anna; Vingron, Martin; Kalscheuer, Vera; Quintero-Rivera, Fabiola; Spielmann, Malte; Mundlos, Stefan 分享 收藏
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordass, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernandez-Jaen, Alberto; van Roozendaal, Kees; Stevens, Servi J. C.; Macville, Merryn V. E.; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S.; Engle, Elizabeth C.; Houge, Gunnar; Gradek, Gyri A.; Douglas, Andrew G. L.; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C.; Hirata, Hiromi; Kalscheuer, Vera M. 分享 收藏
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish Gudmundsson, Sanna; Wilbe, Maria; Filipek-Gorniok, Beata; Molin, Anna-Maja; Ekvall, Sara; Johansson, Josefin; Allalou, Amin; Gylje, Hans; Kalscheuer, Vera M.; Ledin, Johan; Anneren, Goran; Bondeson, Marie-Louise 分享 收藏
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome Nazaryan-Petersen, Lusine; Oliveira, Ines R.; Mehrjouy, Mana M.; Mendez, Juan M. M.; Bak, Mads; Bugge, Merete; Kalscheuer, Vera M.; Bache, Iben; Hancks, Dustin C.; Tommerup, Niels 分享 收藏
Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability Chiou, Tzu-Ting; Long, Philip; Schumann-Gillett, Alexandra; Kanamarlapudi, Venkateswarlu; Haas, Stefan A.; Harvey, Kirsten; O'Mara, Megan L.; De Blasi, Angel L.; Kalscheuer, Vera M.; Harvey, Robert J. 分享 收藏
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation Khayat, Wujood; Hackett, Anna; Shaw, Marie; Ilie, Alina; Dudding-Byth, Tracy; Kalscheuer, Vera M.; Christie, Louise; Corbett, Mark A.; Juusola, Jane; Friend, Kathryn L.; Kirmse, Brian M.; Gecz, Jozef; Field, Michael; Orlowski, John 分享 收藏
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation Basilicata, M. Felicia; Bruel, Ange-Line; Semplicio, Giuseppe; Valsecchi, Claudia Isabelle Keller; Aktas, Tugce; Duffourd, Yannis; Rumpf, Tobias; Morton, Jenny; Bache, Iben; Szymanski, Witold G.; Gilissen, Christian; Vanakker, Olivier; Ounap, Katrin; Mittler, Gerhard; Van Der Burgt, Ineke; El Chehadeh, Salima; Cho, Megan T.; Pfundt, Rolph; Tan, Tiong Yang; Kirchhoff, Maria; Menten, Bjorn; Vergult, Sarah; Lindstrom, Kristin; Reis, Andre; Johnson, Diana S.; Fryer, Alan; McKay, Victoria; Fisher, Richard B.; Thauvin-Robinet, Christel; Francis, David; Roscioli, Tony; Pajusalu, Sander; Radtke, Kelly; Ganesh, Jaya; Brunner, Han G.; Wilson, Meredith; Faivre, Laurence; Kalscheuer, Vera M.; Thevenon, Julien; Akhtar, Asifa 分享 收藏
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling 与X连锁智力障碍相关的o-glcnac转移酶错义突变使参与细胞命运决定和信号传导的基因失调 Selvan, Nithya; George, Stephan; Serajee, Fatema J.; Shaw, Marie; Hobson, Lynne; Kalscheuer, Vera; Prasad, Nripesh; Levy, Shawn E.; Taylor, Juliet; Aftimos, Salim; Schwartz, Charles E.; Huq, Ahm M.; Gecz, Jozef; Wells, Lance 分享 收藏
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder Frints, Suzanna G. M.; Ozanturk, Aysegul; Rodriguez Criado, German; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; Hickey, Scott E.; Kammoun, Molka; Gripp, Karen W.; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mosher, Theresa Mihalic; Kelly, Benjamin J.; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C.; van Roozendaal, Kees E. P.; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M. 分享 收藏
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells X染色体剂量和SRY形状的存在人类细胞常染色体区域DNA甲基化的性别特异性差异 Ho, Bianca; Greenlaw, Keelin; Al Tuwaijri, Abeer; Moussette, Sanny; Martinez, Francisco; Giorgio, Elisa; Brusco, Alfredo; Ferrero, Giovanni Battista; Linhares, Natlia D.; Valadares, Eugenia R.; Svartman, Marta; Kalscheuer, Vera M.; Rodriguez Criado, German; Laprise, Catherine; Greenwood, Celia M. T.; Naumova, Anna K. 分享 收藏
Genetics of intellectual disability in consanguineous families Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Herwig, Ralf; Hosseini, Masoumeh; Oppitz, Cornelia; Abedini, Seyedeh Sedigheh; Suckow, Vanessa; Larti, Farzaneh; Beheshtian, Maryam; Lipkowitz, Bettina; Akhtarkhavari, Tara; Mehvari, Sepideh; Otto, Sabine; Mohseni, Marzieh; Arzhangi, Sanaz; Jamali, Payman; Mojahedi, Faezeh; Taghdiri, Maryam; Papari, Elaheh; Banavandi, Mohammad Javad Soltani; Akbari, Saeide; Tonekaboni, Seyed Hassan; Dehghani, Hossein; Ebrahimpour, Mohammad Reza; Bader, Ingrid; Davarnia, Behzad; Cohen, Monika; Khodaei, Hossein; Albrecht, Beate; Azimi, Sarah; Zirn, Birgit; Bastami, Milad; Wieczorek, Dagmar; Bahrami, Gholamreza; Keleman, Krystyna; Vahid, Leila Nouri; Tzschach, Andreas; Gaertner, Jutta; Gillessen-Kaesbach, Gabriele; Varaghchi, Jamileh Rezazadeh; Timmermann, Bernd; Pourfatemi, Fatemeh; Jankhah, Aria; Chen, Wei; Nikuei, Pooneh; Kalscheuer, Vera M.; Oladnabi, Morteza; Wienker, Thomas F.; Ropers, Hans-Hilger; Najmabadi, Hossein 分享 收藏
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis Piard, Juliette; Hu, Jia-Hua; Campeau, Philippe M.; Rzonca, Sylwia; Van Esch, Hilde; Vincent, Elizabeth; Han, Mei; Rossignol, Elsa; Castaneda, Jennifer; Chelly, Jamel; Skinner, Cindy; Kalscheuer, Vera M.; Wang, Ruihua; Lemyre, Emmanuelle; Kosinska, Joanna; Stawinski, Piotr; Bal, Jerzy; Hoffman, Dax A.; Schwartz, Charles E.; Van Maldergem, Lionel; Wang, Tao; Worley, Paul F. 分享 收藏
&ITCDKL5&IT variants Improving our understanding of a rare neurologic disorder Hector, Ralph D.; Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E. S.; Cobb, Stuart R. 分享 收藏
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 罕见的GABRA3变异与癫痫发作，脑病和畸形特征有关 Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M.; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y.; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzonca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmuller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A.; Nuernberg, Peter; van Gassen, Koen L. I.; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther 分享 收藏
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