Not logged in Spatial transcriptomics implicates impaired BMP signaling in NF1 fracture pseudarthrosis in murine and patient tissues Rios, Jonathan J.; Juan, Conan; Shelton, John M.; Paria, Nandina; Oxendine, Ila; Wassell, Meghan; Kidane, Yared H.; Cornelia, Reuel; Jeffery, Elise C.; Podeszwa, David A.; Conway, Simon J.; Wise, Carol A.; Tower, Robert J. Share Save
Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs Rong, Ruichen; Denton, Kristin; Jin, Kevin W.; Quan, Peiran; Wen, Zhuoyu; Kozlitina, Julia; Lyon, Stephen; Wang, Aileen; Wise, Carol A.; Beutler, Bruce; Yang, Donghan M.; Li, Qiwei; Rios, Jonathan J.; Xiao, Guanghua Share Save
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Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality Ushiki, Aki; Sheng, Rory R.; Zhang, Yichi; Zhao, Jingjing; Nobuhara, Mai; Murray, Elizabeth; Ruan, Xin; Rios, Jonathan J.; Wise, Carol A.; Ahituv, Nadav Share Save
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Yu, Hao; Khanshour, Anas M.; Ushiki, Aki; Otomo, Nao; Koike, Yoshinao; Einarsdottir, Elisabet; Fan, Yanhui; Antunes, Lilian; Kidane, Yared H.; Cornelia, Reuel; Sheng, Rory R.; Zhang, Yichi; Pei, Jimin; Grishin, Nick, V; Evers, Bret M.; Cheung, Jason Pui Yin; Herring, John A.; Terao, Chikashi; Song, You-qiang; Gurnett, Christina A.; Gerdhem, Paul; Ikegawa, Shiro; Rios, Jonathan J.; Ahituv, Nadav; Wise, Carol A. Share Save
Impaired glycine neurotransmission causes adolescent idiopathic scoliosis Wang, Xiaolu; Yue, Ming; Cheung, Jason Pui Yin; Cheung, Prudence Wing Hang; Fan, Yanhui; Wu, Meicheng; Wang, Xiaojun; Zhao, Sen; Khanshour, Anas M.; Rios, Jonathan J.; Chen, Zheyi; Wang, Xiwei; Tu, Wenwei; Chan, Danny; Yuan, Qiuju; Qin, Dajiang; Qiu, Guixing; Wu, Zhihong; Zhang, Terry Jianguo; Ikegawa, Shiro; Wu, Nan; Wise, Carol A.; Hu, Yong; Luk, Keith Dip Kei; Song, You-Qiang; Guo, Bo Share Save
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation Rios, Jonathan J.; Li, Yang; Paria, Nandina; Bohlender, Ryan J.; Huff, Chad; Rosenfeld, Jill A.; Liu, Pengfei; Bi, Weimin; Haga, Kentaro; Fukuda, Mitsunori; Vashisth, Shayal; Kaur, Kiran; Chahrour, Maria H.; Bober, Michael B.; Duker, Angela L.; Ladha, Farah A.; Hanchard, Neil A.; Atala, Kristhen; Khanshour, Anas M.; Smith, Linsley; Wise, Carol A.; Delgado, Mauricio R. Share Save
Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1 Paria, Nandina; Khalid, Aysha; Shen, Bo; Lemoine, Ben; Chan, Jinyan; Kidane, Yared H.; Oxendine, Ila; Cornelia, Reuel; Wise, Carol A.; Rios, Jonathan J. Share Save
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus de Blank, Peter M. K.; Gross, Andrea M.; Akshintala, Srivandana; Blakeley, Jaishri O.; Bollag, Gideon; Cannon, Ashley; Dombi, Eva; Fangusaro, Jason; Gelb, Bruce D.; Hargrave, Darren; Kim, AeRang; Klesse, Laura J.; Loh, Mignon; Martin, Staci; Moertel, Christopher; Packer, Roger; Payne, Jonathan M.; Rauen, Katherine A.; Rios, Jonathan J.; Robison, Nathan; Schorry, Elizabeth K.; Shannon, Kevin; Stevenson, David A.; Stieglitz, Elliot; Ullrich, Nicole J.; Walsh, Karin S.; Weiss, Brian D.; Wolters, Pamela L.; Yohay, Kaleb; Yohe, Marielle E.; Widemann, Brigitte C.; Fisher, Michael J. Share Save
Thousands of induced germline mutations affecting immune cells identified by automated meiotic mapping coupled with machine learning Xu, Darui; Lyon, Stephen; Bu, Chun Hui; Hildebrand, Sara; Choi, Jin Huk; Zhong, Xue; Liu, Aijie; Turer, Emre E.; Zhang, Zhao; Russell, Jamie; Ludwig, Sara; Mahrt, Elena; Nair-Gill, Evan; Shi, Hexin; Wang, Ying; Zhang, Duanwu; Yue, Tao; Wang, Kuan-wen; SoRelle, Jeffrey A.; Su, Lijing; Misawa, Takuma; McAlpine, William; Sun, Lei; Wang, Jianhui; Zhan, Xiaoming; Choi, Mihwa; Farokhnia, Roxana; Sakla, Andrew; Schneider, Sara; Coco, Hannah; Coolbaugh, Gabrielle; Hayse, Braden; Mazal, Sara; Medler, Dawson; Nguyen, Brandon; Rodriguez, Edward; Wadley, Andrew; Tang, Miao; Li, Xiaohong; Anderton, Priscilla; Keller, Katie; Press, Amanda; Scott, Lindsay; Quan, Jiexia; Cooper, Sydney; Collie, Tiffany; Qin, Baifang; Cardin, Jennifer; Simpson, Rochelle; Tadesse, Meron; Sun, Qihua; Wise, Carol A.; Rios, Jonathan J.; Moresco, Eva Marie Y.; Beutler, Bruce Share Save
Saturation mutagenesis defines novel mouse models of severe spine deformity Rios, Jonathan J.; Denton, Kristin; Yu, Hao; Manickam, Kandamurugu; Garner, Shannon; Russell, Jamie; Ludwig, Sara; Rosenfeld, Jill A.; Liu, Pengfei; Munch, Jake; Sucato, Daniel J.; Beutler, Bruce; Wise, Carol A. Share Save
Biallelic variants in RNU12 cause CDAGS syndrome Xing, Chao; Kanchwala, Mohammed; Rios, Jonathan J.; Hyatt, Tommy; Wang, Richard C.; Tran, An; Dougherty, Irene; Tovar-Garza, Andrea; Purnadi, Christy; Kumar, Monique G.; Berk, David; Shinawi, Marwan; Irvine, Alan D.; Toledo-Bahena, Mirna; Agim, Nnenna G.; Glass, Donald A., II Share Save
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice Rios, Jonathan J.; Denton, Kristin; Russell, Jamie; Kozlitina, Julia; Ferreira, Carlos R.; Lewanda, Amy F.; Mayfield, Joshua E.; Moresco, Eva; Ludwig, Sara; Tang, Miao; Li, Xiaohong; Lyon, Stephen; Khanshour, Anas; Paria, Nandina; Khalid, Aysha; Li, Yang; Xie, Xudong; Feng, Jian Q.; Xu, Qian; Lu, Yongbo; Hammer, Robert E.; Wise, Carol A.; Beutler, Bruce Share Save
Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome Makki, Nadja; Zhao, Jingjing; Liu, Zhaoyang; Eckalbar, Walter L.; Ushiki, Aki; Khanshour, Anas M.; Wu, Joe; Rios, Jonathan; Gray, Ryan S.; Wise, Carol A.; Ahituv, Nadav Share Save
A molecular basis for neurofibroma-associated skeletal manifestations in NF1 Ma, Yun; Gross, Andrea M.; Dombi, Eva; Pemov, Alexander; Choi, Kwangmin; Chaney, Katherine; Rhodes, Steven D.; Angus, Steven P.; Sciaky, Noah; Clapp, D. Wade; Ratner, Nancy; Widemann, Brigitte C.; Rios, Jonathan J.; Elefteriou, Florent Share Save
Genetic association and characterization of FSTL5 in isolated clubfoot Khanshour, Anas M.; Kidane, Yared H.; Kozlitina, Julia; Cornelia, Reuel; Rafipay, Alexandra; De Mello, Vanessa; Weston, Mitchell; Paria, Nandina; Khalid, Aysha; Hecht, Jacqueline T.; Dobbs, Matthew B.; Richards, B. Stephens; Vargesson, Neil; Hamra, F. Kent; Wilson, Megan; Wise, Carol; Gurnett, Christina A.; Rios, Jonathan J. Share Save
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) Zhao, Sen; Zhang, Yuanqiang; Chen, Weisheng; Li, Weiyu; Wang, Shengru; Wang, Lianlei; Zhao, Yanxue; Lin, Mao; Ye, Yongyu; Lin, Jiachen; Zheng, Yu; Liu, Jiaqi; Zhao, Hengqiang; Yan, Zihui; Yang, Yongxin; Huang, Yingzhao; Lin, Guanfeng; Chen, Zefu; Zhang, Zhen; Liu, Sen; Jin, Lichao; Wang, Zhaoyang; Chen, Jingdan; Niu, Yuchen; Li, Xiaoxin; Wu, Yong; Wang, Yipeng; Du, Renqian; Gao, Na; Zhao, Hong; Yang, Ying; Liu, Ying; Tian, Ye; Li, Wenli; Zhao, Yu; Liu, Jia; Yu, Bin; Zhang, Na; Yu, Keyi; Yang, Xu; Li, Shugang; Xu, Yuan; Hu, Jianhua; Liu, Zhe; Shen, Jianxiong; Zhang, Shuyang; Su, Jianzhong; Khanshour, Anas M.; Kidane, Yared H.; Ramo, Brandon; Rios, Jonathan J.; Liu, Pengfei; Sutton, V. Reid; Posey, Jennifer E.; Wu, Zhihong; Qiu, Guixing; Wise, Carol A.; Zhang, Feng; Lupski, James R.; Zhang, Jianguo; Wu, Nan Share Save
The cartilage matrisome in adolescent idiopathic scoliosis Wise, Carol A.; Sepich, Diane; Ushiki, Aki; Khanshour, Anas M.; Kidane, Yared H.; Makki, Nadja; Gurnett, Christina A.; Gray, Ryan S.; Rios, Jonathan J.; Ahituv, Nadav; Solnica-Krezel, Lila Share Save
SCGN deficiency results in colitis susceptibility Sifuentes-Dominguez, Luis F.; Li, Haiying; Llano, Ernesto; Liu, Zhe; Singla, Amika; Patel, Ashish S.; Kathania, Mahesh; Khoury, Areen; Norris, Nicholas; Rios, Jonathan J.; Starokadomskyy, Petro; Park, Jason Y.; Gopal, Purva; Liu, Qi; Tan, Shuai; Chan, Lillienne; Ross, Theodora; Harrison, Steven; Venuprasad, K.; Baker, Linda A.; Jia, Da; Burstein, Ezra Share Save
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