Huili Xue

18 Daoshan Road
Fuzhou, 350001, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 25 publications

Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epilepsy.

Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epilepsy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 09, 2025

Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.

Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.

Journal: Scientific reports

Published: February 27, 2025

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Journal: BMC musculoskeletal disorders

Published: November 12, 2024

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.

Journal: Orphanet journal of rare diseases

Published: November 03, 2024

Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review.

Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review.

Journal: Molecular genetics & genomic medicine

Published: April 10, 2024

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Journal: Scientific reports

Published: February 01, 2024

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.

Journal: Scientific reports

Published: January 31, 2024

Genetic analysis of chorionic villus tissues in early missed abortions.

Genetic analysis of chorionic villus tissues in early missed abortions.

Journal: Scientific reports

Published: September 23, 2023

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.

Journal: Scientific reports

Published: September 12, 2023

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.

Journal: Scientific reports

Published: July 03, 2023

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.

Journal: Frontiers in neuroscience

Published: February 14, 2023

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.

Journal: BMC medical genomics

Published: December 02, 2022

Showing 1-12 of 25

Last Updated: 09/26/2026