Guo H - Search Results

1

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Tan S, Zhang Q, Zhan R, Luo S, Han Y, Yu B, Muss C, Pingault V, Marlin S, Delahaye A, Peters S, Perne C, Kreiß M, Spataro N, Trujillo-Quintero JP, Racine C, Tran-Mau-Them F, Phornphutkul C, Besterman AD, Martinez J, Wang X, Tian X, Srivastava S, Urion DK, Madden JA, Saif HA, Morrow MM, Begtrup A, Li X, Jurgensmeyer S, Leahy P, Zhou S, Li F, Hu Z, Tan J, Xia K, Guo H. Tan S, et al. Among authors: guo h. Mol Psychiatry. 2025 May;30(5):1952-1965. doi: 10.1038/s41380-024-02806-z. Epub 2024 Oct 29. Mol Psychiatry. 2025. PMID: 39472663

2

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: guo h. 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.

3

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.

Wu J, Yu P, Jin X, Xu X, Li J, Li Z, Wang M, Wang T, Wu X, Jiang Y, Cai W, Mei J, Min Q, Xu Q, Zhou B, Guo H, Wang P, Zhou W, Hu Z, Li Y, Cai T, Wang Y, Xia K, Jiang YH, Sun ZS. Wu J, et al. Among authors: guo h. J Genet Genomics. 2018 Oct 20;45(10):527-538. doi: 10.1016/j.jgg.2018.09.002. Epub 2018 Oct 21. J Genet Genomics. 2018. PMID: 30392784

4

Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.

Li Y, Jia X, Wu H, Xun G, Ou J, Zhang Q, Li H, Bai T, Hu Z, Zou X, Xia K, Guo H. Li Y, et al. Among authors: guo h. Am J Med Genet A. 2018 Dec;176(12):2668-2676. doi: 10.1002/ajmg.a.40666. Epub 2018 Dec 9. Am J Med Genet A. 2018. PMID: 30537371 Review.

5

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. Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018. Mol Autism. 2018. PMID: 30564305 Free PMC article.

6

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.

Zhao W, Tan J, Zhu T, Ou J, Li Y, Shen L, Wu H, Han L, Liu Y, Jia X, Bai T, Li H, Ke X, Zhao J, Zou X, Hu Z, Guo H, Xia K. Zhao W, et al. Among authors: guo h. J Genet Genomics. 2019 May 20;46(5):247-257. doi: 10.1016/j.jgg.2019.04.002. Epub 2019 May 18. J Genet Genomics. 2019. PMID: 31196716

7

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L, Chen M, Wang Y, Wu H, Quan Y, Bai T, Li K, Duan G, Gao Y, Hu Z, Xia K, Guo H. Han L, et al. Among authors: guo h. Mol Genet Genomic Med. 2019 Jul;7(7):e00789. doi: 10.1002/mgg3.789. Epub 2019 Jun 14. Mol Genet Genomic Med. 2019. PMID: 31199603 Free PMC article.

8

Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.

Shen L, Liu C, Gao M, Li H, Zhang Y, Tian Q, Ni H, Peng P, Zhao R, Hu Z, Gao Y, Xia K, Bo Q, Guo H. Shen L, et al. Among authors: guo h. J Dermatol. 2019 Aug;46(8):731-733. doi: 10.1111/1346-8138.14978. Epub 2019 Jun 26. J Dermatol. 2019. PMID: 31241787

9

POGZ de novo missense variants in neuropsychiatric disorders.

Zhao W, Quan Y, Wu H, Han L, Bai T, Ma L, Li B, Xun G, Ou J, Zhao J, Hu Z, Guo H, Xia K. Zhao W, et al. Among authors: guo h. Mol Genet Genomic Med. 2019 Sep;7(9):e900. doi: 10.1002/mgg3.900. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347273 Free PMC article.

10

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. Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep. Sci Adv. 2019. PMID: 31579823 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

22,799 results

Search Page

Filters