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Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M. Kim M, et al. Among authors: xu j. Elife. 2016 Jan 26;5:e12245. doi: 10.7554/eLife.12245. Elife. 2016. PMID: 26812546 Free PMC article.
Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci.
Westrick RJ, Tomberg K, Siebert AE, Zhu G, Winn ME, Dobies SL, Manning SL, Brake MA, Cleuren AC, Hobbs LM, Mishack LM, Johnston AJ, Kotnik E, Siemieniak DR, Xu J, Li JZ, Saunders TL, Ginsburg D. Westrick RJ, et al. Among authors: xu j. Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9659-9664. doi: 10.1073/pnas.1705762114. Epub 2017 Aug 21. Proc Natl Acad Sci U S A. 2017. PMID: 28827327 Free PMC article.
Long runs of homozygosity are enriched for deleterious variation.
Szpiech ZA, Xu J, Pemberton TJ, Peng W, Zöllner S, Rosenberg NA, Li JZ. Szpiech ZA, et al. Among authors: xu j. Am J Hum Genet. 2013 Jul 11;93(1):90-102. doi: 10.1016/j.ajhg.2013.05.003. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746547 Free PMC article.
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