Zhengmao Q. Hu

110 Xiangya Road
Changsha, China

Last Updated: 09/26/2026

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Found 115 publications

X-linked SYTL4 missense variant disrupts RAB27A-dependent vesicle trafficking and synaptic transmission in autism.

X-linked SYTL4 missense variant disrupts RAB27A-dependent vesicle trafficking and synaptic transmission in autism.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 30, 2026

Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.

Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.

Journal: Science advances
Published: June 17, 2026

CHST5 gene mutations contribute to high myopia by disrupting collagen fiber organization.

CHST5 gene mutations contribute to high myopia by disrupting collagen fiber organization.

Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: January 06, 2026

Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.

Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.

Journal: Molecular psychiatry
Published: January 05, 2026

Haplotype-resolved long-read sequencing reveals parent-of-origin effects of tandem-repeat variation in autism spectrum disorder.

Haplotype-resolved long-read sequencing reveals parent-of-origin effects of tandem-repeat variation in autism spectrum disorder.

Journal: Science bulletin
Published: December 19, 2025

NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.

NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.

Journal: Cell & bioscience
Published: December 04, 2025

Evidence supporting the role of GIGYF2 in synapse development and autism.

Evidence supporting the role of GIGYF2 in synapse development and autism.

Journal: Molecular psychiatry
Published: July 07, 2025

Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.

Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.

Journal: International journal of molecular sciences
Published: June 24, 2025

P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.

P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.

Journal: Human mutation
Published: June 03, 2025

Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.

Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.

Journal: Journal of the peripheral nervous system : JPNS
Published: February 25, 2025

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Journal: The Journal of clinical investigation
Published: January 28, 2025

KCTD10 p.C124W variant contributes to schizophrenia by attenuating LLPS-mediated synapse formation.

KCTD10 p.C124W variant contributes to schizophrenia by attenuating LLPS-mediated synapse formation.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 20, 2024
Showing 1-12 of 115

Last Updated: 09/26/2026