Yuan H - Search Results

1

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.

Zhang S, Qin H, Wang Q, Wang Y, Liu Y, Yang Q, Luo J, Qin Z, Ji X, Kan L, Geng G, Huang J, Wei S, Chen Q, Shen Y, Yuan H, Lai B. Zhang S, et al. Among authors: yuan h. Orphanet J Rare Dis. 2024 Oct 11;19(1):376. doi: 10.1186/s13023-024-03365-w. Orphanet J Rare Dis. 2024. PMID: 39394138 Free PMC article.

2

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.

3

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.

Yuan H, Wang Q, Zeng X, He P, Xu W, Guo H, Liu Y, Lin Y. Yuan H, et al. Orphanet J Rare Dis. 2022 Apr 4;17(1):149. doi: 10.1186/s13023-022-02306-9. Orphanet J Rare Dis. 2022. PMID: 35379254 Free PMC article.

4

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.

He P, Wang Q, Hong X, Yuan H. He P, et al. Among authors: yuan h. Am J Med Genet A. 2023 Jan;191(1):70-76. doi: 10.1002/ajmg.a.62988. Epub 2022 Oct 11. Am J Med Genet A. 2023. PMID: 36218002

5

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.

6

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

7

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.

Wang Q, Chen P, Liu J, Lou J, Liu Y, Yuan H. Wang Q, et al. Among authors: yuan h. BMC Med Genomics. 2020 May 7;13(1):66. doi: 10.1186/s12920-020-0728-8. BMC Med Genomics. 2020. PMID: 32381089 Free PMC article.

8

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.

Yuan H, Yuan H, Wang Q, Ye W, Yao R, Xu W, Liu Y. Yuan H, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1434. doi: 10.1002/mgg3.1434. Epub 2020 Jul 23. Mol Genet Genomic Med. 2020. PMID: 32705822 Free PMC article.

9

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.

Wang Q, Xu W, Liu Y, Yuan H. Wang Q, et al. Among authors: yuan h. J Mol Neurosci. 2021 Mar;71(3):607-612. doi: 10.1007/s12031-020-01681-x. Epub 2020 Aug 25. J Mol Neurosci. 2021. PMID: 32839936

10

[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome].

Zhou X, Wang Q, Liu Y, Liu J, Yuan H. Zhou X, et al. Among authors: yuan h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):63-66. doi: 10.3760/cma.j.cn511374-20191120-00594. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33423261 Chinese.

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