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Page 1
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. 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.
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H, Wang T, Wu H, Long M, Coe BP, Li H, Xun G, Ou J, Chen B, Duan G, Bai T, Zhao N, Shen Y, Li Y, Wang Y, Zhang Y, Baker C, Liu Y, Pang N, Huang L, Han L, Jia X, Liu C, Ni H, Yang X, Xia L, Chen J, Shen L, Li Y, Zhao R, Zhao W, Peng J, Pan Q, Long Z, Su W, Tan J, Du X, Ke X, Yao M, Hu Z, Zou X, Zhao J, Bernier RA, Eichler EE, Xia K. Guo H, et al. Among authors: jia x. Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018. Mol Autism. 2018. PMID: 30564305 Free PMC article.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Guo H, et al. Among authors: jia x. Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep. Sci Adv. 2019. PMID: 31579823 Free PMC article.
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: jia x. 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.
De novo variants in the PABP domain of PABPC1 lead to developmental delay.
Wegler M, Jia X, Alders M, Bouman A, Chen J, Duan X, Lauzon JL, Mathijssen IB, Sticht H, Syrbe S, Tan S, Guo H, Abou Jamra R. Wegler M, et al. Among authors: jia x. Genet Med. 2022 Aug;24(8):1761-1773. doi: 10.1016/j.gim.2022.04.013. Epub 2022 May 6. Genet Med. 2022. PMID: 35511136 Free article.
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
Chen G, Yu B, Tan S, Tan J, Jia X, Zhang Q, Zhang X, Jiang Q, Hua Y, Han Y, Luo S, Hoekzema K, Bernier RA, Earl RK, Kurtz-Nelson EC, Idleburg MJ, Madan-Khetarpal S, Clark R, Sebastian J, Fernandez-Jaen A, Alvarez S, King SD, Ramos LL, Santos MLS, Martin DM, Brooks D, Symonds JD, Cutcutache I, Pan Q, Hu Z, Yuan L, Eichler EE, Xia K, Guo H. Chen G, et al. Among authors: jia x. J Clin Invest. 2022 Oct 3;132(19):e159806. doi: 10.1172/JCI159806. J Clin Invest. 2022. PMID: 35917186 Free PMC article.
KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13.
Cheng J, Wang Z, Tang M, Zhang W, Li G, Tan S, Mu C, Hu M, Zhang D, Jia X, Wen Y, Guo H, Xu D, Liu L, Li J, Xia K, Li F, Duan R, Xu Z, Yuan L. Cheng J, et al. Among authors: jia x. Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2315707121. doi: 10.1073/pnas.2315707121. Epub 2024 Mar 15. Proc Natl Acad Sci U S A. 2024. PMID: 38489388 Free PMC article.
9,057 results