Xia Z - Search Results

1

Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.

Guo J, Guo Q, Zhong T, Xu C, Xia Z, Fang H, Chen Q, Zhou Y, Xie J, Jin D, Yang Y, Wu X, Zhu H, Hour A, Jin X, Zhou Y, Li Q. Guo J, et al. Among authors: xia z. Cell Genom. 2024 Oct 9;4(10):100632. doi: 10.1016/j.xgen.2024.100632. Cell Genom. 2024. PMID: 39389020 Free PMC article.

2

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.

Chen J, Xia Z, Zhou Y, Ma X, Wang X, Guo Q. Chen J, et al. Among authors: xia z. BMC Med Genomics. 2021 Mar 2;14(1):68. doi: 10.1186/s12920-021-00920-3. BMC Med Genomics. 2021. PMID: 33653342 Free PMC article.

3

Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.

Lu M, Zhou Y, Wang Z, Xia Z, Ren J, Guo Q. Lu M, et al. Among authors: xia z. J Hum Genet. 2019 Apr;64(4):297-304. doi: 10.1038/s10038-019-0563-y. Epub 2019 Jan 18. J Hum Genet. 2019. PMID: 30659264

4

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.

Wang X, Xia Z, He Y, Zhou X, Zhang H, Gao C, Ge Y, Cai X, Zhou Y, Guo Q. Wang X, et al. Among authors: xia z. Front Genet. 2021 Oct 1;12:718503. doi: 10.3389/fgene.2021.718503. eCollection 2021. Front Genet. 2021. PMID: 34659341 Free PMC article.

5

Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers.

Jiang Y, Xia Z, Zhou Y, Lu X, Du X, Guo Q. Jiang Y, et al. Among authors: xia z. Clin Chim Acta. 2024 Jan 15;553:117708. doi: 10.1016/j.cca.2023.117708. Epub 2023 Dec 13. Clin Chim Acta. 2024. PMID: 38097128

6

Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries.

Jiang Y, Luo Z, Wang W, Lu X, Xia Z, Xie J, Lu M, Wu L, Zhou Y, Guo Q. Jiang Y, et al. Among authors: xia z. Eur J Med Genet. 2024 Apr;68:104921. doi: 10.1016/j.ejmg.2024.104921. Epub 2024 Feb 5. Eur J Med Genet. 2024. PMID: 38325644 Free article.

7

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.

Xia Z, Wang X, Ye H, Gao C, Zhou X, Chen J, Ge Y, Li J, Zhou Y, Guo Q. Xia Z, et al. Front Genet. 2022 Sep 23;13:844381. doi: 10.3389/fgene.2022.844381. eCollection 2022. Front Genet. 2022. PMID: 36212124 Free PMC article.

8

Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.

Xia Z, Zhou Y, Fu D, Wang Z, Ge Y, Ren J, Guo Q. Xia Z, et al. J Hum Genet. 2019 May;64(5):387-396. doi: 10.1038/s10038-019-0576-6. Epub 2019 Feb 15. J Hum Genet. 2019. PMID: 30765868

9

Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss.

Zhou Y, Xu W, Jiang Y, Xia Z, Zhang H, Chen X, Wang Z, Ge Y, Guo Q. Zhou Y, et al. Among authors: xia z. J Mol Diagn. 2020 Apr;22(4):523-531. doi: 10.1016/j.jmoldx.2020.01.005. Epub 2020 Apr 9. J Mol Diagn. 2020. PMID: 32279948 Free article.

10

Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.

Wang X, He Y, Jiang Y, Feng X, Zhang G, Xia Z, Zhou Y. Wang X, et al. Among authors: xia z. Clin Chim Acta. 2019 Nov;498:161-166. doi: 10.1016/j.cca.2019.08.021. Epub 2019 Aug 22. Clin Chim Acta. 2019. PMID: 31445982

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