Qi Yang

No.59, Xiangzhu Road
Nanning, China

Last Updated: 09/26/2026

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Found 57 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

Characterization of a novel inherited splice-site variant in MAPK8IP3 expands the genetic and phenotypic spectrum of neurodevelopmental disorders.

Characterization of a novel inherited splice-site variant in MAPK8IP3 expands the genetic and phenotypic spectrum of neurodevelopmental disorders.

Journal: Biochemistry and biophysics reports

Published: January 19, 2026

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

Journal: Frontiers in neuroscience

Published: November 27, 2025

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia.

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia.

Journal: Molecular genetics & genomic medicine

Published: November 20, 2025

Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.

Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 28, 2025

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

Journal: Frontiers in genetics

Published: August 22, 2025

Context-specific expression quantitative trait loci dynamics uncover genetic pleiotropy in schizophrenia.

Context-specific expression quantitative trait loci dynamics uncover genetic pleiotropy in schizophrenia.

Journal: Neurobiology of disease

Published: August 16, 2025

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

Journal: Frontiers in genetics

Published: August 15, 2025

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Journal: Frontiers in pediatrics

Published: June 22, 2025

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Journal: Experimental and therapeutic medicine

Published: June 06, 2025

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.

Journal: Orphanet journal of rare diseases

Published: May 20, 2025

Showing 1-12 of 57

Last Updated: 09/26/2026