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Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia Daddali, Ravindra; Kettunen, Kaisa; Turunen, Tanja; Knox, Ainsley V. C.; Laine, Pia; Chowdhury, Iftekhar; Vanttinen, Markku; Mamia, Nanni; Stiegler, Amy L.; Boggon, Titus J.; Kere, Juha; Romberg, Neil; Seppanen, Mikko R. J.; Varjosalo, Markku; Martelius, Timi; Gronholm, Juha Share Save
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Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations Zhao, Shujuan; Mekbib, Kedous Y.; van der Ent, Martijn A.; Allington, Garrett; Prendergast, Andrew; Chau, Jocelyn E.; Smith, Hannah; Shohfi, John; Ocken, Jack; Duran, Daniel; Furey, Charuta G.; Hao, Le Thi; Duy, Phan Q.; Reeves, Benjamin C.; Zhang, Junhui; Nelson-Williams, Carol; Chen, Di; Li, Boyang; Nottoli, Timothy; Bai, Suxia; Rolle, Myron; Zeng, Xue; Dong, Weilai; Fu, Po-Ying; Wang, Yung-Chun; Mane, Shrikant; Piwowarczyk, Paulina; Fehnel, Katie Pricola; See, Alfred Pokmeng; Iskandar, Bermans J.; Aagaard-Kienitz, Beverly; Moyer, Quentin J.; Dennis, Evan; Kiziltug, Emre; Kundishora, Adam J.; DeSpenza Jr, Tyrone; Greenberg, Ana B. W.; Kidanemariam, Seblewengel M.; Hale, Andrew T.; Johnston, James M.; Jackson, Eric M.; Storm, Phillip B.; Lang, Shih-Shan; Butler, William E.; Carter, Bob S.; Chapman, Paul; Stapleton, Christopher J.; Patel, Aman B.; Rodesch, Georges; Smajda, Stanislas; Berenstein, Alejandro; Barak, Tanyeri; Erson-Omay, E. Zeynep; Zhao, Hongyu; Moreno-De-Luca, Andres; Proctor, Mark R.; Smith, Edward R.; Orbach, Darren B.; Alper, Seth L.; Nicoli, Stefania; Boggon, Titus J.; Lifton, Richard P.; Gunel, Murat; King, Philip D.; Jin, Sheng Chih; Kahle, Kristopher T. Share Save
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De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis Timberlake, Andrew T.; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M.; Stiegler, Amy L.; Boggon, Titus J.; Sanyoura, May; Morrow, Michelle; Wenger, Tara L.; Fernandes, Erica M.; Caluseriu, Oana; Persing, John A.; Jin, Sheng Chih; Lifton, Richard P.; Kahle, Kristopher T.; Kruszka, Paul Share Save
Fibroblast Growth Factor Receptor 3 Associates with and Tyrosine Phosphorylates p90 RSK2, Leading to RSK2 Activation That Mediates Hematopoietic Transformation Kang, Sumin; Elf, Shannon; Dong, Shaozhong; Hitosugi, Taro; Lythgoe, Katherine; Guo, Ailan; Ruan, Hong; Lonial, Sagar; Khoury, Hanna J.; Williams, Ifor R.; Lee, Benjamin H.; Roesel, Johannes L.; Karsenty, Gerard; Hanauer, Andre; Taunton, Jack; Boggon, Titus J.; Gu, Ting-Lei; Chen, Jing Share Save
Tyrosine Phosphorylation of Lactate Dehydrogenase A Is Important for NADH/NAD+ Redox Homeostasis in Cancer Cells Fan, Jun; Hitosugi, Taro; Chung, Tae-Wook; Xie, Jianxin; Ge, Qingyuan; Gu, Ting-Lei; Polakiewicz, Roberto D.; Chen, Georgia Z.; Boggon, Titus J.; Lonial, Sagar; Khuri, Fadlo R.; Kang, Sumin; Chen, Jing Share Save
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