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收藏分享 收藏 分享 收藏 分享 收藏 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 CIROZ is dispensable in ancestral vertebrates but essential for left in humansSzenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno 分享 收藏 Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA GeneGanesh, Vijay S.; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C.; Monin, Pauline; O'Leary, Melanie C.; Goodrich, Julia K.; Garimella, Kiran V.; England, Eleina; Weisburd, Ben; Aguet, Francois; Bacino, Carlos A.; Murdock, David R.; Dai, Hongzheng; Rosenfeld, Jill A.; Emrick, Lisa T.; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisee; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Macarthur, Daniel G.; Ulitsky, Igor; Carvill, Gemma L.; O'Donnell-Luria, Anne 分享 收藏 Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinementDNA甲基化分析在遗传未解决的小儿癫痫中的诊断效用和CHD2表签名精化Laflamme, Christy W.; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E.; Russ-Hall, Sophie J.; Schneider, Amy L.; Bonkowski, Emily S.; Almanza Fuerte, Edith P.; Allan, Talia J.; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B.; Nyaga, Denis M.; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V.; Darnell, Daniel; Olsen, Scott R.; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; Mcconkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L.; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L.; Gupta, Sachin; Jones, Elizabeth A.; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C.; Rosenfeld, Jill A.; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L.; Wang, Zhaoming; Berkovic, Samuel F.; Sadleir, Lynette G.; Miller, Danny E.; Scheffer, Ingrid E.; Sadikovic, Bekim; Mefford, Heather C. 分享 收藏 Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia AJourdy, Yohann; Chatron, Nicolas; Fretigny, Mathilde; Zawadzki, Christophe; Lienhart, Anne; Stieltjes, Natalie; Rohrlich, Pierre -Simon; Thauvin-Robinet, Christel; Volot, Fabienne; Hamida, Yasmine Ferhat; Hariti, Ghania; Leuci, Alexandre; Dargaud, Yesim; Sanlaville, Damien; Vinciguerra, Christine 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 分享 收藏 Molecular and Phenotypic Characterization of the RORB-Related DisorderGokce-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 Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseHusain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio 分享 收藏 GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanismsRagnarsson, 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 Neurocognitive evaluation of children with down syndrome and obstructive sleep apnea syndromeIoan, Iulia; Weick, Diane; Sevin, Francois; Sanlaville, Damien; De Freminville, Benedicte; Schweitzer, Cyril; Akkari, Mohamed; Coutier, Laurianne; Putois, Benjamin; Plancoulaine, Sabine; Thieux, Marine; Franco, Patricia 分享 收藏 Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency羊水中的类固醇分析: 12种类固醇的参考范围和对21-羟化酶缺乏症的兴趣Pourquet, Anne; Teoli, Jordan; Bouty, Aurore; Renault, Lucie; Roucher, Florence; Mallet, Delphine; Rigaud, Chantal; Dijoud, Frederique; Mouriquand, Pierre; Mure, Pierre-Yves; Sanlaville, Damien; Ecochard, Rene; Plotton, Ingrid 分享 收藏 Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesHi-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 分享 收藏 
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