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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: chen c, chen g. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders.
Li K, Fang Z, Zhao G, Li B, Chen C, Xia L, Wang L, Luo T, Wang X, Wang Z, Zhang Y, Jiang Y, Pan Q, Hu Z, Guo H, Tang B, Liu C, Sun Z, Xia K, Li J. Li K, et al. Among authors: chen c. J Autism Dev Disord. 2022 Mar;52(3):1299-1313. doi: 10.1007/s10803-021-05031-7. Epub 2021 May 10. J Autism Dev Disord. 2022. PMID: 33970367 Free PMC article.
Identification of rare RTN3 variants in Alzheimer's disease in Han Chinese.
Zou Y, He W, Wang K, Han H, Xiao T, Chen X, Zhou B, Tan J, Xia K, Tang B, Chen C, Shen L, Yan R, Zhang Z. Zou Y, et al. Among authors: chen c, chen x. Hum Genet. 2018 Feb;137(2):141-150. doi: 10.1007/s00439-018-1868-1. Epub 2018 Jan 22. Hum Genet. 2018. PMID: 29356939
Novel West syndrome candidate genes in a Chinese cohort.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N. Peng J, et al. Among authors: chen c. CNS Neurosci Ther. 2018 Dec;24(12):1196-1206. doi: 10.1111/cns.12860. Epub 2018 Apr 17. CNS Neurosci Ther. 2018. PMID: 29667327 Free PMC article.
Coding mutations in NUS1 contribute to Parkinson's disease.
Guo JF, Zhang L, Li K, Mei JP, Xue J, Chen J, Tang X, Shen L, Jiang H, Chen C, Guo H, Wu XL, Sun SL, Xu Q, Sun QY, Chan P, Shang HF, Wang T, Zhao GH, Liu JY, Xie XF, Jiang YQ, Liu ZH, Zhao YW, Zhu ZB, Li JD, Hu ZM, Yan XX, Fang XD, Wang GH, Zhang FY, Xia K, Liu CY, Zhu XW, Yue ZY, Li SC, Cai HB, Zhang ZH, Duan RH, Tang BS. Guo JF, et al. Among authors: chen j, chen c. Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):11567-11572. doi: 10.1073/pnas.1809969115. Epub 2018 Oct 22. Proc Natl Acad Sci U S A. 2018. PMID: 30348779 Free PMC article.
Prediction of the Age at Onset of Spinocerebellar Ataxia Type 3 with Machine Learning.
Peng L, Chen Z, Chen T, Lei L, Long Z, Liu M, Deng Q, Yuan H, Zou G, Wan L, Wang C, Peng H, Shi Y, Wang P, Peng Y, Wang S, He L, Xie Y, Tang Z, Wan N, Gong Y, Hou X, Shen L, Xia K, Li J, Chen C, Zhang Z, Qiu R, Tang B, Jiang H. Peng L, et al. Among authors: chen z, chen c, chen t. Mov Disord. 2021 Jan;36(1):216-224. doi: 10.1002/mds.28311. Epub 2020 Sep 29. Mov Disord. 2021. PMID: 32991004
86,077 results
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