Qiaowei Liang

Changsha, 410078, China

Last Updated: 09/26/2026

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Found 8 publications

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.

Journal: Science China. Life sciences

Published: October 06, 2025

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Journal: Genome medicine

Published: July 31, 2025

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder.

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder.

Journal: Cell reports

Published: June 30, 2023

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Journal: Thrombosis and haemostasis

Published: June 07, 2023

Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.

Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.

Journal: Clinical chemistry

Published: August 03, 2022

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.

Journal: Clinical chemistry

Published: May 24, 2022

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA).

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA).

Journal: The Journal of molecular diagnostics : JMD

Published: January 18, 2021

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.

Journal: Molecular genetics & genomic medicine

Published: April 07, 2020

Showing 1-8 of 8

Last Updated: 09/26/2026