Zhuang DY - Search Results

1

Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics.

Zhang LC, Yang XC, Jiang YH, Yang Z, Yan LL, Zhang YX, Li Q, Tian LY, Cao J, Zhou Y, Wu SS, Zhuang DY, Chen CS, Li HB. Zhang LC, et al. Among authors: zhuang dy. Prenat Diagn. 2024 Oct 31. doi: 10.1002/pd.6693. Online ahead of print. Prenat Diagn. 2024. PMID: 39482571

2

Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis.

Xie M, Zheng ZJ, Zhou Y, Zhang YX, Li Q, Tian LY, Cao J, Xu YT, Ren J, Yu Q, Wu SS, Fang S, Zhuang DY, Geng J, Chen CS, Li HB. Xie M, et al. Among authors: zhuang dy. Clin Chem. 2024 Jun 3;70(6):820-829. doi: 10.1093/clinchem/hvae031. Clin Chem. 2024. PMID: 38517460

3

The significance of machine learning in neonatal screening for inherited metabolic diseases.

Yang X, Ding S, Zhang J, Hu Z, Zhuang D, Wang F, Wu S, Chen C, Li H. Yang X, et al. Front Pediatr. 2024 Mar 20;12:1366891. doi: 10.3389/fped.2024.1366891. eCollection 2024. Front Pediatr. 2024. PMID: 38577637 Free PMC article.

4

[Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions].

Zhang Y, Liu Y, Yan L, Zhuang D, Li H. Zhang Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Mar 10;38(3):224-227. doi: 10.3760/cma.j.cn511374-20200205-00057. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33751529 Chinese.

5

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.

Yang X, Li Q, Wang F, Yan L, Zhuang D, Qiu H, Li H, Chen L. Yang X, et al. Front Genet. 2021 Jun 24;12:686137. doi: 10.3389/fgene.2021.686137. eCollection 2021. Front Genet. 2021. PMID: 34249102 Free PMC article.

6

Random forest classifier improving phenylketonuria screening performance in two Chinese populations.

Song Y, Yin Z, Zhang C, Hao S, Li H, Wang S, Yang X, Li Q, Zhuang D, Zhang X, Cao Z, Ma X. Song Y, et al. Front Mol Biosci. 2022 Oct 11;9:986556. doi: 10.3389/fmolb.2022.986556. eCollection 2022. Front Mol Biosci. 2022. PMID: 36304929 Free PMC article.

7

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

Yan L, Cao J, Zhang Y, Liu Y, Zou J, Lou B, Zhuang D, Li H. Yan L, et al. BMC Med Genomics. 2023 Aug 17;16(1):190. doi: 10.1186/s12920-023-01631-7. BMC Med Genomics. 2023. PMID: 37592254 Free PMC article.

8

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.

Zhuang DY, Sun SN, Hu ZJ, Xie M, Zhang YX, Yan LL, Pan JW, Li HB. Zhuang DY, et al. Mol Genet Genomic Med. 2024 Mar;12(3):e2405. doi: 10.1002/mgg3.2405. Mol Genet Genomic Med. 2024. PMID: 38444283 Free PMC article.

9

A statistical investigation of parameters associated with low cell-free fetal DNA fraction in maternal plasma for noninvasive prenatal testing.

Pan Y, Pan X, Zhuang D, Zhou Y, Xue J, Wu S, Chen C, Li H. Pan Y, et al. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2338440. doi: 10.1080/14767058.2024.2338440. Epub 2024 Apr 11. J Matern Fetal Neonatal Med. 2024. PMID: 38604949 Free article.

10

[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].

Yan L, Zhang Y, Tian L, Liu Y, He Y, Han C, Zhuang D, Li H. Yan L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Sep 10;41(9):1059-1065. doi: 10.3760/cma.j.cn511374-20230819-00077. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 39217483 Chinese.

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