Bone marrow adipocytes promote the regeneration of stem cells and haematopoiesis by secreting SCF
Zhou, Bo O., Yu, Hua, Yue, Rui, Zhao, Zhiyu, Rios, Jonathan J., Naveiras, Olaia, Morrison, Sean J.
Published in Nature cell biology (01.08.2017)
Published in Nature cell biology (01.08.2017)
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Journal Article
PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Journal Article
Conference Proceeding
Geographical and sex‐specific effects of malathion insecticide selection in African fig fly Zaprionus indianus Gupta, 1970 (Diptera: Drosophilidae)
Oliveira Rios, Jonathan, Costa, Sávio Cunha, Conceição Galego, Luís Gustavo
Published in Journal of applied entomology (1986) (01.04.2024)
Published in Journal of applied entomology (1986) (01.04.2024)
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Journal Article
A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias
Marvel, Brooke M., Smith, Linsley, Rios, Jonathan J., Christie, Michelle R.
Published in Pediatric neurology (01.03.2024)
Published in Pediatric neurology (01.03.2024)
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Journal Article
Viable mutations of mouse midnolin suppress B cell malignancies
Zhong, Xue, Peddada, Nagesh, Moresco, James J, Wang, Jianhui, Jiang, Yiao, Rios, Jonathan J, Moresco, Eva Marie Y, Choi, Jin Huk, Beutler, Bruce
Published in The Journal of experimental medicine (03.06.2024)
Published in The Journal of experimental medicine (03.06.2024)
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Journal Article
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Rios, Jonathan J, Paria, Nandina, Burns, Dennis K, Israel, Bonnie A, Cornelia, Reuel, Wise, Carol A, Ezaki, Marybeth
Published in Human molecular genetics (01.02.2013)
Published in Human molecular genetics (01.02.2013)
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Journal Article
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis
Starokadomskyy, Petro, Gemelli, Terry, Rios, Jonathan J, Xing, Chao, Wang, Richard C, Li, Haiying, Pokatayev, Vladislav, Dozmorov, Igor, Khan, Shaheen, Miyata, Naoteru, Fraile, Guadalupe, Raj, Prithvi, Xu, Zhe, Xu, Zigang, Ma, Lin, Lin, Zhimiao, Wang, Huijun, Yang, Yong, Ben-Amitai, Dan, Orenstein, Naama, Mussaffi, Huda, Baselga, Eulalia, Tadini, Gianluca, Grunebaum, Eyal, Sarajlija, Adrijan, Krzewski, Konrad, Wakeland, Edward K, Yan, Nan, de la Morena, Maria Teresa, Zinn, Andrew R, Burstein, Ezra
Published in Nature immunology (01.05.2016)
Published in Nature immunology (01.05.2016)
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Journal Article
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
Published in Journal of bone and mineral research (01.02.2023)
Published in Journal of bone and mineral research (01.02.2023)
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Journal Article
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
Published in Cell reports (Cambridge) (26.03.2024)
Published in Cell reports (Cambridge) (26.03.2024)
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Journal Article
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sancha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Nourse, Craig, Santoyo-Lopez, Javier, Semple, Colin A., Williams, Nicola, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
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
Published in Neuro-oncology (Charlottesville, Va.) (02.11.2022)
Published in Neuro-oncology (Charlottesville, Va.) (02.11.2022)
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Journal Article
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
Published in Journal of medical genetics (01.01.2021)
Published in Journal of medical genetics (01.01.2021)
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Journal Article
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, Gao, Bo
Published in The Journal of clinical investigation (16.01.2024)
Published in The Journal of clinical investigation (16.01.2024)
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Journal Article
Inheritance of Hb S and G6PD deficiency in a familiar group
Domingos, Claudia Bonini, Rios, Jonathan de Oliveira, Orlandini, Leticia Cardoso, Pereira, Lucas Ramos
Published in Archives of medical science (01.01.2024)
Published in Archives of medical science (01.01.2024)
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Journal Article
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
Published in Human molecular genetics (21.01.2021)
Published in Human molecular genetics (21.01.2021)
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Journal Article
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci
Khanshour, Anas M, Kou, Ikuyo, Fan, Yanhui, Einarsdottir, Elisabet, Makki, Nadja, Kidane, Yared H, Kere, Juha, Grauers, Anna, Johnson, Todd A, Paria, Nandina, Patel, Chandreshkumar, Singhania, Richa, Kamiya, Nobuhiro, Takeda, Kazuki, Otomo, Nao, Watanabe, Kota, Luk, Keith D K, Cheung, Kenneth M C, Herring, John A, Rios, Jonathan J, Ahituv, Nadav, Gerdhem, Paul, Gurnett, Christina A, Song, You-Qiang, Ikegawa, Shiro, Wise, Carol A
Published in Human molecular genetics (15.11.2018)
Published in Human molecular genetics (15.11.2018)
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Journal Article
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.
Published in American journal of human genetics (07.12.2023)
Published in American journal of human genetics (07.12.2023)
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Journal Article
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
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Journal Article
Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1
de la Croix Ndong, Jean, Makowski, Alexander J, Uppuganti, Sasidhar, Vignaux, Guillaume, Ono, Koichiro, Perrien, Daniel S, Joubert, Simon, Baglio, Serena R, Granchi, Donatella, Stevenson, David A, Rios, Jonathan J, Nyman, Jeffry S, Elefteriou, Florent
Published in Nature medicine (01.08.2014)
Published in Nature medicine (01.08.2014)
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Journal Article
TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease
Chen, Weisheng, Lin, Jiachen, Wang, Lianlei, Li, Xiaoxin, Zhao, Sen, Liu, Jiaqi, Akdemir, Zeynep C., Zhao, Yanxue, Du, Renqian, Ye, Yongyu, Song, Xiaofei, Zhang, Yuanqiang, Yan, Zihui, Yang, Xinzhuang, Lin, Mao, Shen, Jianxiong, Wang, Shengru, Gao, Na, Yang, Ying, Liu, Ying, Li, Wenli, Liu, Jia, Zhang, Na, Yang, Xu, Xu, Yuan, Zhang, Jianguo, Delgado, Mauricio R., Posey, Jennifer E., Qiu, Guixing, Rios, Jonathan J., Liu, Pengfei, Wise, Carol A., Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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