Yuan H - Search Results

1

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: yuan h. Brain. 2023 Aug 1;146(8):3347-3363. doi: 10.1093/brain/awad071. Brain. 2023. PMID: 36869767

2

Paternal Uniparental Disomy of Chromosome 14 with Hypospadias.

Yuan H, Xie Y, Li Q, Hu X, Li X, Sun X, Zhao W. Yuan H, et al. Cytogenet Genome Res. 2016;148(4):256-61. doi: 10.1159/000446783. Epub 2016 Jun 15. Cytogenet Genome Res. 2016. PMID: 27300571

3

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Yuan H, Huang L, Hu X, Li Q, Sun X, Xie Y, Kong S, Wang X. Yuan H, et al. Orphanet J Rare Dis. 2016 Jul 2;11(1):89. doi: 10.1186/s13023-016-0465-4. Orphanet J Rare Dis. 2016. PMID: 27370225 Free PMC article.

4

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Liang L, Xie Y, Shen Y, Yin Q, Yuan H. Liang L, et al. Among authors: yuan h. Cytogenet Genome Res. 2016;150(2):112-117. doi: 10.1159/000454698. Epub 2016 Dec 29. Cytogenet Genome Res. 2016. PMID: 28030855

5

A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors.

Yuan H, Li X, Wang Q, Yang W, Song J, Hu X, Shen Y. Yuan H, et al. Eur J Med Genet. 2018 Oct;61(10):607-611. doi: 10.1016/j.ejmg.2018.04.002. Epub 2018 Apr 11. Eur J Med Genet. 2018. PMID: 29654904

6

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.

Yuan H, Wang Q, Liu Y, Yang W, He Y, Gusella JF, Song J, Shen Y. Yuan H, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):589-595. doi: 10.1002/ajmg.b.32673. Epub 2018 Aug 4. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30076746 Free PMC article.

7

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

Chen F, Yuan H, Wu W, Chen S, Yang Q, Wang J, Zhang Q, Gui B, Fan X, Chen R, Shen Y. Chen F, et al. Among authors: yuan h. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698. Epub 2019 Mar 20. Am J Med Genet C Semin Med Genet. 2019. PMID: 30893510

8

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Zhang S, Chen S, Qin H, Yuan H, Pi Y, Yang Y, Huang H, Li G, Sun Y, Wang Z, Ma H, Fu X, Zhou T, Wang J, Zhang H, Shen Y. Zhang S, et al. Among authors: yuan h. Orphanet J Rare Dis. 2019 Jun 14;14(1):144. doi: 10.1186/s13023-019-1111-8. Orphanet J Rare Dis. 2019. PMID: 31200758 Free PMC article.

9

CNV profiles of Chinese pediatric patients with developmental disorders.

Yuan H, Shangguan S, Li Z, Luo J, Su J, Yao R, Zhang S, Liang C, Chen Q, Gao Z, Zhu Y, Zhang S, Li W, Lu W, Zhang Y, Xie H, Liu F, Wang Q, Lin Y, Liu L, Wang X, Liang L, Zhong J, Li H, Qiu H, Zhang H, Yan M, Mireguli M, Liu Y, Zhang D, Wang H, Lv H, Xie B, Gui C, Cui X, Zou L, Wang J, Gusella JF, Shen Y, Chen X. Yuan H, et al. Genet Med. 2021 Apr;23(4):669-678. doi: 10.1038/s41436-020-01048-y. Epub 2021 Jan 5. Genet Med. 2021. PMID: 33402738 Free article.

10

RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.

Wang Q, Han Y, Zhou X, Cheng S, Wang X, Chen X, Yuan H. Wang Q, et al. Among authors: yuan h. Clin Genet. 2023 Aug;104(2):259-265. doi: 10.1111/cge.14343. Epub 2023 Apr 24. Clin Genet. 2023. PMID: 37092250

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