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Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Sun Y, Peng J, Liang D, Ye X, Xu N, Chen L, Yan D, Zhang H, Xiao B, Qiu W, Shen Y, Pang N, Liu Y, Liang C, Qin Z, Luo J, Chen F, Wang J, Zhang Z, Wei H, Du J, Yan H, Duan R, Wang J, Zhang Y, Liao S, Sun K, Wu L, Yu Y. Sun Y, et al. Among authors: shen y. Hum Mutat. 2022 May;43(5):568-581. doi: 10.1002/humu.24347. Epub 2022 Mar 1. Hum Mutat. 2022. PMID: 35143101
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.
Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Dauber A, et al. Among authors: shen y. Am J Hum Genet. 2011 Dec 9;89(6):751-9. doi: 10.1016/j.ajhg.2011.10.014. Epub 2011 Nov 23. Am J Hum Genet. 2011. PMID: 22118881 Free PMC article.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: shen y. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.
Fu C, Chen R, Zhang S, Luo S, Wang J, Chen Y, Zheng H, Su J, Hu X, Fan X, Luo J, Yi S, Lai Y, Li C, Xie B, Shen Y, Gu X, Chen S. Fu C, et al. Among authors: shen y. Clin Chim Acta. 2015 Oct 23;450:322-6. doi: 10.1016/j.cca.2015.09.008. Epub 2015 Sep 8. Clin Chim Acta. 2015. PMID: 26362610
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