Quanze He
Suzhou, 215000, China
Last Updated: 09/26/2026
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Found 24 publications
A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.
Journal: Human genetics
Published: September 17, 2025
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Journal: Journal of human genetics
Published: May 22, 2025
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Journal: Orphanet journal of rare diseases
Published: June 16, 2024
Feasibility of non-invasive prenatal testing for the detection of fetal chromosomal copy number variants
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 31, 2024
A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis.
Journal: Clinical and translational medicine
Published: April 09, 2024
A genome-wide association study of neonatal metabolites.
Journal: Cell genomics
Published: March 09, 2023
ZBTB40 is a telomere-associated protein and protects telomeres in human ALT cells.
Journal: The Journal of biological chemistry
Published: October 22, 2022
The performance of grey zone in common foetal aneuploidy screening by semiconductor sequencing.
Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
Published: April 25, 2022
Nuclear Factor Related to KappaB Binding Protein (NFRKB) Is a Telomere-Associated Protein and Involved in Liver Cancer Development.
Journal: DNA and cell biology
Published: September 30, 2021
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing.
Journal: Frontiers in genetics
Published: July 09, 2021
Integrated genomic analysis reveals regulatory pathways and dynamic landscapes of the tRNA transcriptome.
Journal: Scientific reports
Published: November 07, 2020
BCREval: a computational method to estimate the bisulfite conversion ratio in WGBS.
Journal: BMC bioinformatics
Published: March 26, 2019
Last Updated: 09/26/2026