Sheng H. Yi

No.59, Xiangzhu Road
Nanning, China

Last Updated: 09/26/2026

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Found 126 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

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.

Journal: Frontiers in pediatrics

Published: September 05, 2025

Knocking down tumor suppressor gene PTPRG enhances axonal regeneration of dorsal root ganglion neurons.

Knocking down tumor suppressor gene PTPRG enhances axonal regeneration of dorsal root ganglion neurons.

Journal: Frontiers in cell and developmental biology

Published: September 04, 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

Risk factors and predictive model for pressure injuries in ICU patients with a Braden score ≤9 based on initial serum biomarkers at admission.

Risk factors and predictive model for pressure injuries in ICU patients with a Braden score ≤9 based on initial serum biomarkers at admission.

Journal: Journal of tissue viability

Published: July 22, 2025

Efficacy and prognostic factors of split liver transplantation from pediatric donors

Efficacy and prognostic factors of split liver transplantation from pediatric donors

Journal: Zhonghua yi xue za zhi

Published: June 23, 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

Showing 1-12 of 126

Last Updated: 09/26/2026