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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. Jia X, et al. Among authors: zhang s, zhang g, zhang z. Sci Adv. 2022 Aug 19;8(33):eabo7112. doi: 10.1126/sciadv.abo7112. Epub 2022 Aug 17. Sci Adv. 2022. PMID: 35977029 Free PMC article.
Excess of RALGAPB de novo variants in neurodevelopmental disorders.
Shah AA, Zhang G, Li K, Liu C, Kanhar AA, Wang M, Quan Y, Wu H, Shen L, Khan R, Chen G, Ou J, Hu Z, Xia K, Guo H. Shah AA, et al. Among authors: zhang g. Eur J Med Genet. 2020 Nov;63(11):104041. doi: 10.1016/j.ejmg.2020.104041. Epub 2020 Aug 24. Eur J Med Genet. 2020. PMID: 32853829
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