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Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome 转录长读序列测序揭示了一个突尼斯科尔斯舒特-通茨综合征家庭中一种新型ROGDI剪接变异体的分子复杂性 Essid, Miriam; Karoui, Sana; Zribi, Mouna; Ben Younes, Thouraya; Januel, Louis; Lafont, Estelle; Labalme, Audrey; Ben Hafsa, Meriem; Seo, Go Hun; Khatrouch, Safa; Boudabous, Hela; Ben Chehida, Amel; Sanlaville, Damien; Jilani, Houweyda; Benjemaa, Lamia; Kraoua, Ichraf; Lesca, Gaetan; Chatron, Nicolas 分享 收藏
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) Viora-Dupont, Eleonore; Robert, Francoise; Chassagne, Aline; Pelissier, Aurore; Staraci, Stephanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frederic; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Heron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence 分享 收藏
Molecular and Phenotypic Characterization of the RORB-Related Disorder Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan 分享 收藏
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms Ragnarsson, Lotten; Zhang, Zihan; Das, Sooraj S.; Tran, Poanna; Andersson, Asa; des Portes, Vincent; Altuzarra, Cecilia Desmettre; Remerand, Ganaelle; Labalme, Audrey; Chatron, Nicolas; Sanlaville, Damien; Lesca, Gaetan; Anggono, Victor; Vetter, Irina; Keramidas, Angelo 分享 收藏
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies Krueger, Johanna; Schubert, Julian; Kegele, Josua; Labalme, Audrey; Mao, Miaomiao; Heighway, Jacqueline; Seebohm, Guiscard; Yan, Pu; Koko, Mahmoud; Aslan-Kara, Kezban; Caglayan, Hande; Steinhoff, Bernhard J.; Weber, Yvonne G.; Keo-Kosal, Pascale; Berkovic, Samuel F.; Hildebrand, Michael S.; Petrou, Steven; Krause, Roland; May, Patrick; Lesca, Gaetan; Maljevic, Snezana; Lerche, Holger 分享 收藏
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling Tusseau, Maud; Lovsin, Ema; Samaille, Charlotte; Pescarmona, Remi; Mathieu, Anne-Laure; Maggio, Maria-Cristina; Selmanovic, Velma; Debeljak, Marusa; Dachy, Angelique; Novljan, Gregor; Janin, Alexandre; Januel, Louis; Gibier, Jean-Baptiste; Chopin, Emilie; Rouvet, Isabelle; Goncalves, David; Fabien, Nicole; Rice, Gillian, I; Lesca, Gaetan; Labalme, Audrey; Romagnani, Paola; Walzer, Thierry; Viel, Sebastien; Perret, Magali; Crow, Yanick J.; Avcin, Tadej; Cimaz, Rolando; Belot, Alexandre 分享 收藏
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Melanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio 分享 收藏
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases 大量严重肾脏疾病胎儿的靶向下一代测序 Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Moriniere, Vincent; Tournant, Carole; Audrezet, Marie-Pierre; Michel-Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie-Bitach, Tania; Bessieres, Bettina; Schaefer, Elise; Scheidecker, Sophie; Lambert, Laetitia; Beneteau, Claire; Patat, Olivier; Boute-Benejean, Odile; Molin, Arnaud; Guimiot, Fabien; Fontanarosa, Nicolas; Nizon, Mathilde; Lefebvre, Mathilde; Jeanpierre, Cecile; Saunier, Sophie; Heidet, Laurence 分享 收藏
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A Jourdy, Yohann; Bardel, Claire; Fretigny, Mathilde; Diguet, Flavie; Rollat-Farnier, Pierre-Antoine; Mathieu, Marie-Laure; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Vinciguerra, Christine; Schluth-Bolard, Caroline 分享 收藏
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior RFX家族转录因子的破坏会导致自闭症，注意力缺陷/多动障碍，智力障碍和行为失调 Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W. 分享 收藏
Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders Yammine, T.; Reynaud, N.; Lejeune, H.; Diguet, F.; Rollat-Farnier, P. A.; Labalme, A.; Plotton, I; Farra, C.; Sanlaville, D.; Chouery, E.; Schluth-Bolard, C. 分享 收藏
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS Mazzola, Laure; Oliver, Karen L.; Labalme, Audrey; Baykan, Betul; Muona, Mikko; Joensuu, Tarja H.; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F.; Lehesjoki, Anna-Elina; Lesca, Gaetan 分享 收藏
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism Guo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K.; Hernan, Rebecca; Alkuraya, Fowzan S.; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A.; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J.; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frederic; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Dreyer, Inken; Tsai, Anne Chun-hui; Slegesky, Valerie; McGee, Rose B.; Daniels, Brina; Sellars, Elizabeth A.; Carpenter, Lori A.; Schaefer, Bradley; Sacoto, Maria J. Guillen; Begtrup, Amber; Schnur, Rhonda E.; Punj, Sumit; Wentzensen, Ingrid M.; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A.; Chen, Chao; Eichler, Evan E.; Xia, Kun 分享 收藏
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy 加巴喷丁治疗KCNQ2发展性癫痫脑病患者 Soldovieri, Maria Virginia; Freri, Elena; Ambrosino, Paolo; Rivolta, Ilaria; Mosca, Ilaria; Binda, Anna; Murano, Carmen; Ragona, Francesca; Canafoglia, Laura; Vannicola, Chiara; Solazzi, Roberta; Granata, Tiziana; Castellotti, Barbara; Messina, Giuliana; Gellera, Cinzia; Labalme, Audrey; Lesca, Gaetan; DiFrancesco, Jacopo C.; Taglialatela, Maurizio 分享 收藏
Mandibular-pelvic-patellar syndrome is a novelPITX1-related disorder due to alteration of PITX1 transactivation ability Morel, Godelieve; Duhamel, Celine; Boussion, Simon; Frenois, Frederic; Lesca, Gaetan; Chatron, Nicolas; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Thevenon, Julien; Faivre, Laurence; Fassier, Alice; Prodhomme, Olivier; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Genevieve, David; Rossi, Massimiliano 分享 收藏
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 与TRAF7种系变异相关的表型谱和转录组谱 Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T. 分享 收藏
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa 分享 收藏
A genome-wide DNA methylation signature for SETD1B-related syndrome Krzyzewska, I. M.; Maas, S. M.; Henneman, P.; Lip, K. v d; Venema, A.; Baranano, K.; Chassevent, A.; Aref-Eshghi, E.; van Essen, A. J.; Fukuda, T.; Ikeda, H.; Jacquemont, M.; Kim, H-G; Labalme, A.; Lewis, S. M. E.; Lesca, G.; Madrigal, I; Mahida, S.; Matsumoto, N.; Rabionet, R.; Rajcan-Separovic, E.; Qiao, Y.; Sadikovic, B.; Saitsu, H.; Sweetser, D. A.; Alders, M.; Mannens, M. M. A. M. 分享 收藏
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