Hui Xi - Publications

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 08, 2026

Prenatal radiofrequency ablation for bronchopulmonary sequestration: a case report of successful fetal intervention and longitudinal outcomes.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: March 18, 2026

Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: March 02, 2026

Application of Cell-Free DNA Barcode-Enabled Single-Molecule Test for Non-Invasive Prenatal Testing of α-Thalassemia and β-Thalassemia.

Journal: Journal of clinical laboratory analysis

Published: January 27, 2026

Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum.

Journal: Human genomics

Published: January 20, 2026

Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype.

Journal: BMC medical genomics

Published: May 22, 2025

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.

Journal: BMC medical genomics

Published: March 28, 2025

Non-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis.

Journal: Clinical genetics

Published: March 24, 2025

Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects.

Journal: BMC pregnancy and childbirth

Published: November 12, 2024

A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.

Journal: BMC medical genomics

Published: July 16, 2024

Expert consensus on clinical genetic counseling of α-thalassemia gene analysis

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: May 31, 2024

A Comparative Study of Medium-Coverage Genome Sequencing and SNP Array Technology in Identifying Chromosomal Abnormalities to Advance Prenatal and Postnatal Diagnosis.

Journal: The Journal of molecular diagnostics : JMD

Published: May 14, 2024