Yuqing Xu

Hangzhou, China

Last Updated: 09/26/2026

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Found 17 publications

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.

Journal: BMC pregnancy and childbirth

Published: May 15, 2024

Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.

Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.

Journal: Expert review of molecular diagnostics

Published: March 25, 2024

A rare interstitial lung disease in children caused by novel mutations of FARSA gene.

A rare interstitial lung disease in children caused by novel mutations of FARSA gene.

Journal: Pediatric pulmonology

Published: March 07, 2024

SLC10A5 deficiency causes hypercholanemia.

SLC10A5 deficiency causes hypercholanemia.

Journal: Hepatology (Baltimore, Md.)

Published: February 13, 2024

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.

Journal: Frontiers in pediatrics

Published: August 07, 2023

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene.

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene.

Journal: Frontiers in pediatrics

Published: March 21, 2023

scCDC: a computational method for gene-specific contamination detection and correction in single-cell and single-nucleus RNA-seq data.

scCDC: a computational method for gene-specific contamination detection and correction in single-cell and single-nucleus RNA-seq data.

Journal: Genome biology

Published: January 30, 2023

Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.

Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.

Journal: Journal of medical genetics

Published: December 12, 2022

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia.

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia.

Journal: Frontiers in pediatrics

Published: October 06, 2022

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency.

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency.

Journal: Frontiers in genetics

Published: June 26, 2022

Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping.

Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping.

Journal: Frontiers in genetics

Published: September 09, 2021

Pro-Inflammatory Signature in Decidua of Recurrent Pregnancy Loss Regardless of Embryonic Chromosomal Abnormalities.

Pro-Inflammatory Signature in Decidua of Recurrent Pregnancy Loss Regardless of Embryonic Chromosomal Abnormalities.

Journal: Frontiers in immunology

Published: September 08, 2021

Showing 1-12 of 17

Last Updated: 09/26/2026