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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2004 2
2005 1
2006 1
2007 5
2008 6
2009 10
2010 12
2011 12
2012 16
2013 21
2014 19
2015 13
2016 28
2017 16
2018 25
2019 18
2020 30
2021 23
2022 21
2023 18
2024 6

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274 results

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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. Among authors: shen y. 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.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: shen y. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima … See abstract for full author list ➔ Gargano MA, et al. Among authors: shen y. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Liu F, Liang C, Li Z, Zhao S, Yuan H, Yao R, Qin Z, Shangguan S, Zhang S, Zou LP, Chen Q, Gao Z, Wen S, Peng J, Yin F, Chen F, Qiu X, Luo J, Xie Y, Lu D, Zhang Y, Xie H, Li G, Zhang TJ, Luan P, Wang H, Cui X, Huang H, Liu R, Sun X, Chen C, Wu N, Wang J, Liu C, Shen Y, Gusella JF, Chen X. Liu F, et al. Among authors: shen y. Brain. 2023 Aug 1;146(8):3347-3363. doi: 10.1093/brain/awad071. Brain. 2023. PMID: 36869767
[Clinical practice guidelines for Noonan syndrome].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Li X, Wang X, Wang J, Fu L, Luo X, Fu J, Shen Y. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, et al. Among authors: shen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):324-328. doi: 10.3760/cma.j.issn.1003-9406.2020.03.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32128752 Chinese.
[Clinical practice guidelines for Prader-Willi syndrome].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Li C, Xie B, Shen Y, Luo F. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, et al. Among authors: shen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):318-323. doi: 10.3760/cma.j.issn.1003-9406.2020.03.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32128751 Chinese.
274 results