Hongqian Q. Liu
Key Laboratory Of Birth Defects And Related Diseases Of Women And Children
Chengdu, China
Chengdu, China
Last Updated: 09/26/2026
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Found 61 publications
Functional validation of a rare SOS1 gene variant and literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 31, 2026
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate.
Journal: Journal of medical genetics
Published: October 09, 2025
Performance Metrics of Noninvasive Prenatal Testing Panels for Dominant Single-Gene Disorders: A Systematic Review and Meta-Analysis.
Journal: Obstetrics and gynecology
Published: September 21, 2025
Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.
Journal: Genome medicine
Published: July 31, 2025
A novel deletion upstream of POU3F4 in a Chinese family with X-linked deafness 2 and a literature review.
Journal: Frontiers in genetics
Published: June 05, 2025
How do emotional intelligence and professional identity affect humanistic care ability? A cross-sectional study among standardised training nurses in China.
Journal: BMJ open
Published: May 23, 2025
Clinical implementation of monogenic disease expanded carrier screening during pregnancy
Journal: Zhonghua yi xue za zhi
Published: February 12, 2025
Clinical strategy study on prenatal screening and diagnostic model for Down syndrome.
Journal: Scientific reports
Published: May 04, 2024
Customizing carrier screening in the Chinese population: Insights from a 334-gene panel.
Journal: Prenatal diagnosis
Published: April 30, 2024
Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.
Journal: Chinese medical journal
Published: March 26, 2024
Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses.
Journal: Archives of gynecology and obstetrics
Published: March 23, 2024
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.
Journal: Orphanet journal of rare diseases
Published: March 17, 2024
Last Updated: 09/26/2026