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Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders Cheung, Anthony C. T.; Di Pietro, Erminia; Argyriou, Catherine; Bareke, Eric; D'Souza, Yasmin; Puri, Ratna Dua; Shabeer, P. Muhammed; Ganetzky, Rebecca; Goldstein, Amy; Vanderver, Adeline; Mohan, Shruthi; Majewski, Jacek; Yergeau, Christine; Braverman, Nancy 分享 收藏
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis Sentell, Zachary T.; Mougharbel, Lina; Nurcombe, Zachary W.; Babayeva, Sima; Henein, Marc; Chu, Lee Lee; Akpa, Murielle M.; Chung, Chen-Fang; Riviere, Jean-Baptiste; Pupavac, Mihaela; Li, Rui; Rosenblatt, David S.; Majewski, Jacek; Goodyer, Paul R.; Torban, Elena; Kitzler, Thomas M. 分享 收藏
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles 减数分裂I的缺陷导致雄激素性葡萄胎的发生 Rezaei, Maryam; Liang, Manqi; Yalcin, Zeynep; Martin, Jacinta H.; Kazemi, Parinaz; Bareke, Eric; Ge, Zhao-Jia; Fardaei, Majid; Benadiva, Claudio; Hemida, Reda; Hassan, Adnan; Maher, Geoffrey J.; Abdalla, Ebtesam; Buckett, William; Bolze, Pierre-Adrien; Sandhu, Iqbaljit; Duman, Onur; Agrawal, Suraksha; Qian, Jianhua; Broojeni, Jalal Vallian; Bhati, Lavi; Miron, Pierre; Allias, Fabienne; Selim, Amal; Fisher, Rosemary A.; Seckl, Michael J.; Sauthier, Philippe; Touitou, Isabelle; Tan, Seang Lin; Majewski, Jacek; Taketo, Teruko; Slim, Rima 分享 收藏
Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylation Shipman, Gerry A.; Padilla, Reinnier; Horth, Cynthia; Hu, Bo; Bareke, Eric; Vitorino, Francisca N.; Gongora, Joanna M.; Garcia, Benjamin A.; Lu, Chao; Majewski, Jacek 分享 收藏
Etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes SF3B4-related综合征小鼠模型颅面和心脏畸形的病因 Kumar, Shruti; Bareke, Eric; Lee, Jimmy; Carlson, Emma; Merkuri, Fjodor; Schwager, Evelyn E.; Maglio, Steven; Fish, Jennifer L.; Majewski, Jacek; Jerome- Majewska, Loydie A. 分享 收藏
H2A.Z histone variants facilitate HDACi-dependent removal of H3.3K27M mutant protein in pediatric high-grade glioma cells Leszczynska, Katarzyna B.; Freitas-Huhtamaki, Amanda; Jayaprakash, Chinchu; Dzwigonska, Monika; Vitorino, Francisca N. L.; Horth, Cynthia; Wojnicki, Kamil; Gielniewski, Bartlomiej; Szadkowska, Paulina; Kaza, Beata; Nazarian, Javad; Ciolkowski, Maciej K.; Trubicka, Joanna; Grajkowska, Wieslawa; Garcia, Benjamin A.; Majewski, Jacek; Kaminska, Bozena; Mieczkowski, Jakub 分享 收藏
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility Yalcin, Zeynep; Liang, Manqi; Abdelrazek, Ibrahim M.; Friedrich, Corinna; Bareke, Eric; Nabil, Amira; Tuettelmann, Frank; Majewski, Jacek; Abdalla, Ebtesam; Tan, Seang-Lin; Slim, Rima 分享 收藏
Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data Zwaig, Melissa; Baguette, Audrey; Hu, Bo; Johnston, Michael; Lakkis, Hussein; Nakada, Emily M. M.; Faury, Damien; Juretic, Nikoleta; Ellezam, Benjamin; Weil, Alexandre G. G.; Karamchandani, Jason; Majewski, Jacek; Blanchette, Mathieu; Taylor, Michael D. D.; Gallo, Marco; Kleinman, Claudia L. L.; Jabado, Nada; Ragoussis, Jiannis 分享 收藏
Histone methylation antagonism drives tumor immune evasion in squamous cell carcinomas 组蛋白甲基化拮抗作用驱动鳞状细胞癌的肿瘤免疫逃避 Li, Yingl; Goldberg, Elizabeth M.; Chen, Xiao; Xu, Xinjing; McGuire, John T.; Leuzzi, Giuseppe; Karagiannis, Dimitris; Tate, Tiffany; Farhangdoost, Nargess; Horth, Cynthia; Dai, Esther; Li, Zhiming; Zhang, Zhiguo; Izar, Benjamin; Que, Jianwen; Ciccia, Alberto; Majewski, Jacek; Yoon, Angela J.; Ailles, Laurie; Mendelsohn, Cathy Lee; Lu, Chao 分享 收藏
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration Langouet, Maeva; Jolicoeur, Christine; Javed, Awais; Mattar, Pierre; Gearhart, Micah D.; Daiger, Stephen P.; Bertelsen, Mette; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Gronskov, Karen; Jespersgaard, Catherine; Chen, Rui; Sun, Zixi; Li, Hui; Alirezaie, Najmeh; Majewski, Jacek; Bardwell, Vivian J.; Sui, Ruifang; Koenekoop, Robert K.; Cayouette, Michel 分享 收藏
Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer CDC20种系错义变异导致异常有丝分裂进程和家族性癌症 Chen, Owen J.; Castellsague, Ester; Moustafa-Kamal, Mohamed; Nadaf, Javad; Rivera, Barbara; Fahiminiya, Somayyeh; Wang, Yilin; Gamache, Isabelle; Pacifico, Caterina; Jiang, Lai; Carrot-Zhang, Jian; Witkowski, Leora; Berghuis, Albert M.; Schoenberger, Stefan; Schneider, Dominik; Hillmer, Morten; Bens, Susanne; Siebert, Reiner; Stewart, Colin J. R.; Zhang, Ziguo; Chao, William C. H.; Greenwood, Celia M. T.; Barford, David; Tischkowitz, Marc; Majewski, Jacek; Foulkes, William D.; Teodoro, Jose G. 分享 收藏
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Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis Alam, Sabrina Shameen; Kumar, Shruti; Beauchamp, Marie-Claude; Bareke, Eric; Boucher, Alexia; Nzirorera, Nadine; Dong, Yanchen; Padilla, Reinnier; Zhang, Si Jing; Majewski, Jacek; Jerome-Majewska, Loydie A. 分享 收藏
Nucleome programming is required for the foundation of totipotency in mammalian germline development Nagano, Masahiro; Hu, Bo; Yokobayashi, Shihori; Yamamura, Akitoshi; Umemura, Fumiya; Coradin, Mariel; Ohta, Hiroshi; Yabuta, Yukihiro; Ishikura, Yukiko; Okamoto, Ikuhiro; Ikeda, Hiroki; Kawahira, Naofumi; Nosaka, Yoshiaki; Shimizu, Sakura; Kojima, Yoji; Mizuta, Ken; Kasahara, Tomoko; Imoto, Yusuke; Meehan, Killian; Stocsits, Roman; Wutz, Gordana; Hiraoka, Yasuaki; Murakawa, Yasuhiro; Yamamoto, Takuya; Tachibana, Kikue; Peters, Jan-Michel; Mirny, Leonid A.; Garcia, Benjamin A.; Majewski, Jacek; Saitou, Mitinori 分享 收藏
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