Wang H - Search Results

1

Screening a new set of microhaplotypes in exonic regions for sample identity testing and paternity testing during whole exome sequencing analysis.

Tan Y, Tian H, Xiao Y, Xu B, Wang H, Yang M, Liu S. Tan Y, et al. Among authors: wang h. Int J Legal Med. 2024 Sep 26. doi: 10.1007/s00414-024-03326-9. Online ahead of print. Int J Legal Med. 2024. PMID: 39325160

2

Association of CCND1 gene polymorphism with cervical cancer susceptibility in Caucasian population: a meta-analysis.

Yang M, Zhu H, Hu T, Liu S, Wang H. Yang M, et al. Among authors: wang h. Int J Clin Exp Med. 2015 Aug 15;8(8):12983-8. eCollection 2015. Int J Clin Exp Med. 2015. PMID: 26550218 Free PMC article.

3

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

Yang M, Xie H, Xu B, Xiang Q, Wang H, Hu T, Liu S. Yang M, et al. Among authors: wang h. J Clin Lab Anal. 2021 Sep;35(9):e23968. doi: 10.1002/jcla.23968. Epub 2021 Aug 17. J Clin Lab Anal. 2021. PMID: 34403521 Free PMC article.

4

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.

Chen J, Xiang Q, Xiao X, Xu B, Xie H, Wang H, Yang M, Liu S. Chen J, et al. Among authors: wang h. BMC Med Genomics. 2022 Jul 8;15(1):154. doi: 10.1186/s12920-022-01296-8. BMC Med Genomics. 2022. PMID: 35804365 Free PMC article.

5

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.

Zhao Q, Xiang Q, Tan Y, Xiao X, Xie H, Wang H, Yang M, Liu S. Zhao Q, et al. Among authors: wang h. Mol Genet Genomic Med. 2022 Oct;10(10):e2027. doi: 10.1002/mgg3.2027. Epub 2022 Aug 1. Mol Genet Genomic Med. 2022. PMID: 35913199 Free PMC article.

6

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S. Zhao Q, et al. Among authors: wang h. Mol Genet Genomic Med. 2023 Mar;11(3):e2124. doi: 10.1002/mgg3.2124. Epub 2022 Dec 20. Mol Genet Genomic Med. 2023. PMID: 36538006 Free PMC article.

7

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.

Chen J, Xiang Q, Xiao X, Xu B, Xie H, Wang H, Yang M, Liu S. Chen J, et al. Among authors: wang h. Mol Genet Genomic Med. 2024 Jan;12(1):e2303. doi: 10.1002/mgg3.2303. Epub 2023 Nov 6. Mol Genet Genomic Med. 2024. PMID: 37930140 Free PMC article.

8

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.

Tan Y, Tian H, Mai J, Wang H, Yang M, Liu S. Tan Y, et al. Among authors: wang h. Mol Genet Genomic Med. 2024 Jan;12(1):e2320. doi: 10.1002/mgg3.2320. Epub 2023 Nov 10. Mol Genet Genomic Med. 2024. PMID: 37947113 Free PMC article.

9

Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a single patient.

Chen J, Yang S, Wang H, Wang H, Xiao Y, Liu S. Chen J, et al. Among authors: wang h. Front Neurosci. 2024 Jul 23;18:1391596. doi: 10.3389/fnins.2024.1391596. eCollection 2024. Front Neurosci. 2024. PMID: 39108315 Free PMC article.

10

Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay.

Yu B, Chen J, Yang S, Wang H, Xiao Y, Liu S. Yu B, et al. Among authors: wang h. Front Genet. 2024 Aug 9;15:1415194. doi: 10.3389/fgene.2024.1415194. eCollection 2024. Front Genet. 2024. PMID: 39184350 Free PMC article.

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