Weiliang Lu

Guangxi Key Laboratory Of Birth Defects Research And Prevention, Guangxi Key Laboratory Of Reproductive Health And Birth Defects Prevention
Nanning, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 9 publications

NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features.

NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features.

Journal: Frontiers in genetics

Published: May 15, 2026

Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene.

Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene.

Journal: Frontiers in neurology

Published: January 21, 2026

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.

Journal: BMC pregnancy and childbirth

Published: July 06, 2025

Assessing the clinical application value of SNP-array in fetal central nervous system malformations.

Assessing the clinical application value of SNP-array in fetal central nervous system malformations.

Journal: Human genomics

Published: April 17, 2025

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Journal: Molecular genetics & genomic medicine

Published: September 26, 2020

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: September 10, 2020

CNV profiles of Chinese pediatric patients with developmental disorders.

CNV profiles of Chinese pediatric patients with developmental disorders.

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

Published: July 24, 2020

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Journal: Frontiers in genetics

Published: January 30, 2020

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Journal: Molecular genetics & genomic medicine

Published: January 01, 2020

Showing 1-9 of 9

Last Updated: 09/26/2026