Hu XY - Search Results

1

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Liu J, Hu XY, Zhao ZP, Guo RL, Guo J, Li W, Hao CJ, Xu BP. Liu J, et al. Among authors: hu xy. BMC Med Genet. 2019 Nov 14;20(1):182. doi: 10.1186/s12881-019-0919-3. BMC Med Genet. 2019. PMID: 31727123 Free PMC article.

2

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).

Li G, Xu Y, Hu X, Li N, Yao R, Yu T, Wang X, Guo W, Wang J. Li G, et al. Eur J Med Genet. 2019 Jan;62(1):44-46. doi: 10.1016/j.ejmg.2018.04.017. Epub 2018 Apr 28. Eur J Med Genet. 2019. PMID: 29709711

3

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.

Guo J, Li Z, Hao C, Guo R, Hu X, Qian S, Zeng J, Gao H, Li W. Guo J, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e828. doi: 10.1002/mgg3.828. Epub 2019 Jul 3. Mol Genet Genomic Med. 2019. PMID: 31268246 Free PMC article.

4

[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].

Hu X, Guo R, Guo J, Li W, Liu L, Hao C. Hu X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1187-1190. doi: 10.3760/cma.j.issn.1003-9406.2019.12.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813144 Chinese.

5

A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.

Hu X, Liu J, Guo R, Guo J, Zhao Z, Li W, Xu B, Hao C. Hu X, et al. Mol Cytogenet. 2019 Dec 19;12:51. doi: 10.1186/s13039-019-0463-z. eCollection 2019. Mol Cytogenet. 2019. PMID: 31890031 Free PMC article.

6

Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing: Implications for adjustment of BCG vaccination timing in China.

Liu G, Xiao H, Liu L, Guo L, Guo R, Hu X, Hao C, Gui J, Jiao W, Xu F, Shen A, Li W. Liu G, et al. J Genet Genomics. 2020 Apr 20;47(4):229-232. doi: 10.1016/j.jgg.2020.03.003. Epub 2020 Mar 30. J Genet Genomics. 2020. PMID: 32482412 No abstract available.

7

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.

Hu X, Guo R, Guo J, Qi Z, Li W, Hao C. Hu X, et al. Front Genet. 2020 Jun 11;11:473. doi: 10.3389/fgene.2020.00473. eCollection 2020. Front Genet. 2020. PMID: 32595695 Free PMC article.

8

Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.

Zhang P, Hu X, Guo R, Guo J, Li W, Qian S, Hao C, Liu J. Zhang P, et al. Pediatr Investig. 2019 Jun 25;3(2):86-90. doi: 10.1002/ped4.12130. eCollection 2019 Jun. Pediatr Investig. 2019. PMID: 32851297 Free PMC article.

9

Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.

Sun Q, Guo J, Hao C, Guo R, Hu X, Chen Y, Yang W, Li W, Feng Y. Sun Q, et al. Pediatr Investig. 2020 Mar 17;4(1):11-16. doi: 10.1002/ped4.12183. eCollection 2020 Mar. Pediatr Investig. 2020. PMID: 32851336 Free PMC article.

10

Whole exome sequencing for non-selective pediatric patients with hyperlipidemia.

Hu X, Chen L, Gong C, Guo J, Chen Y, Wang Q, Guo R, Li W, Hao C. Hu X, et al. Gene. 2021 Feb 5;768:145310. doi: 10.1016/j.gene.2020.145310. Epub 2020 Nov 18. Gene. 2021. PMID: 33217533

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