Yanjie J. Xia

Zhengzhou, China

Last Updated: 09/26/2026

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Found 27 publications

Whole exome sequencing: a new era in prenatal diagnostics.

Whole exome sequencing: a new era in prenatal diagnostics.

Journal: Journal of translational medicine
Published: September 01, 2025

Results of screening and prenatal diagnosis for 71 fetuses with high risk for trisomy/monosomy 13 syndrome by non-invasive prenatal screening

Results of screening and prenatal diagnosis for 71 fetuses with high risk for trisomy/monosomy 13 syndrome by non-invasive prenatal screening

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2025

Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.

Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.

Journal: European journal of human genetics : EJHG
Published: February 06, 2025

Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?

Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?

Journal: Prenatal diagnosis
Published: July 29, 2024

The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts

The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts

Journal: Zhonghua yi xue za zhi
Published: July 17, 2024

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.

Journal: Orphanet journal of rare diseases
Published: February 01, 2024

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.

Journal: Orphanet journal of rare diseases
Published: July 06, 2023

Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review

Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 28, 2023

Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene

Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 28, 2023

Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia

Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 02, 2022

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up.

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up.

Journal: American journal of obstetrics and gynecology
Published: September 14, 2022

Analysis of chromosomal copy number variations among 163 fetuses with echogenic bowel by using CNV-seq technology

Analysis of chromosomal copy number variations among 163 fetuses with echogenic bowel by using CNV-seq technology

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 09, 2022
Showing 1-12 of 27

Last Updated: 09/26/2026