主要论文 |
第一作者文章（#为并列第一作者）:
Holly AF Stessman#, Bo Xiong#, Bradley P Coe1, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics. 2017 Apr;49(4):515-526 Tianyun Wang#，Hui Guo#，Bo Xiong#，Holly A.F. Stessman#，Huidan Wu，Bradley P. Coe，Tychele N. Turner，Yanling Liu，Wenjing Zhao，Kendra Hoekzema，Laura Vives，Lu Xia，Meina Tang，Jianjun Ou，Biyuan Chen，Yidong Shen，Guanglei Xun，Min Long，Janice Lin，Zev N. Kronenberg，Yu Peng，Ting Bai，Honghui Li，Xiaoyan Ke，Zhengmao Hu，Jingping Zhao，Xiaobing Zou，Kun Xia*, & Evan E. Eichler*,，De novo genic mutations among a Chinese autism spectrum disorder cohort. Nature Communications, 2016; 7: 13316.Bernier, R.#, Golzio, C.#, Xiong, B.#, Stessman, H.A.#, Coe, B.P.#, Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A.T., et al. (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158, 263-276. Xiong, B., and Bellen, H.J. (2013). Rhodopsin homeostasis and retinal degeneration: lessons from the fly. Trends in neurosciences 36, 652-660 Xiong, B., Bayat, V., Jaiswal, M., Zhang, K., Sandoval, H., Charng, W.L., Li, T., David, G., Duraine, L., Lin, Y.Q., et al. (2012). Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells. PLoS biology 10, e1001438 Rui, Y.#, Xu, Z.#, Xiong, B.#, Cao, Y.#, Lin, S., Zhang, M., Chan, S.C., Luo, W., Han, Y., Lu, Z., et al. (2007). A beta-catenin-independent dorsalization pathway activated by Axin/JNK signaling and antagonized by aida. Developmental cell 13, 268-282 Xiong, B.#, Rui, Y.#, Zhang, M., Shi, K., Jia, S., Tian, T., Yin, K., Huang, H., Lin, S., Zhao, X., et al. (2006). Tob1 controls dorsal development of zebrafish embryos by antagonizing maternal beta-catenin transcriptional activity. Developmental cell 11, 225-238 其它作者文章（节选）： Stessman Holly, Willemsen Marjolein, Fenckova Michaela, Penn Osnat, Hoischen Alexander, Xiong Bo, Wang Tianyun, Hoekzema Kendra, Vives Laura, Vogel Ida, et al., Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. The American Journal of Human Genetics, 2016, 98(3): 541-552. David-Morrison G, Xu Z, Rui YN, Charng WL, Jaiswal M, Yamamoto S, Xiong B, Zhang K, Sandoval H, Duraine L, Zuo Z, Zhang S, Bellen HJ. WAC regulates mTOR activity by by acting as an adaptor for the TTT and Pontin/Reptin complexes. Developmental Cell, 2016, 36:139-151 Jaiswal M, Haelterman NA, Sandoval H, Xiong B, Donti T, Kalsotra A, Yamamoto S, Cooper TA, Graham BH, Bellen HJ. Impaired mitochondrial energy production causes light induced photoreceptor degeneration independent of oxidative stress. PLoS Biology, 2015, 13: e100219 Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, Tan KL, Zhang K, Bei D, Xiong B, Charng WL, Busby T, Jawaid A, David G, Jaiswal M, Venken KJT, Yamamoto S, Chen R, Bellen HJ. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Research, 2014, 24:1707-1718 Wang, S., Tan, K.L., Agosto, M.A., Xiong, B., Yamamoto, S., Sandoval, H., Jaiswal, M., Bayat, V., Zhang, K., Charng, W.L., et al. (2015). Correction: the retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS biology 13, e1002170. Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., et al. (2014). A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214. Yamamoto, S., Charng, W.L., Rana, N.A., Kakuda, S., Jaiswal, M., Bayat, V., Xiong, B., Zhang, K., Sandoval, H., David, G., et al. (2012). A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands. Science 338, 1229-1232.
|
