Qinxin Zhang

123 Tianfei Alley, Mochou Road
Nanjing, 210004, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

NIPT-based prenatal screening of maternal Xq28 copy number variations in a cohort of 80,371 pregnancies.

NIPT-based prenatal screening of maternal Xq28 copy number variations in a cohort of 80,371 pregnancies.

Journal: Archives of gynecology and obstetrics

Published: April 02, 2026

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China.

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China.

Journal: The application of clinical genetics

Published: February 26, 2026

Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings.

Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings.

Journal: Archives of gynecology and obstetrics

Published: November 20, 2025

Integrating Optical Genome Mapping With Conventional Methods in Families Seeking Genetic Counseling.

Integrating Optical Genome Mapping With Conventional Methods in Families Seeking Genetic Counseling.

Journal: Prenatal diagnosis

Published: September 02, 2025

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics.

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics.

Journal: Clinical and translational medicine

Published: April 07, 2025

Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study.

Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study.

Journal: Journal of medical genetics

Published: March 31, 2025

Optical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies.

Optical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies.

Journal: Prenatal diagnosis

Published: January 17, 2025

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.

Journal: Journal of translational medicine

Published: December 10, 2023

Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.

Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.

Journal: Diagnostics (Basel, Switzerland)

Published: December 06, 2023

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.

Journal: Biochemical genetics

Published: September 03, 2023

Showing 1-10 of 10

Last Updated: 09/26/2026