Xiao Y. Mao

Department Of Medical Genetics And National Health Commission Key Laboratory For Birth Defect Research And Prevention
Changsha, 410028, China

Last Updated: 09/26/2026

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Found 75 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

De novo variants in MAGED1 suggest a role in intellectual disability pathogenesis.

De novo variants in MAGED1 suggest a role in intellectual disability pathogenesis.

Journal: Neurobiology of disease
Published: February 12, 2026

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Journal: Clinical genetics
Published: January 06, 2026

Epithelial cell expansion drives cyst progression in genetic models of autosomal recessive polycystic kidney disease.

Epithelial cell expansion drives cyst progression in genetic models of autosomal recessive polycystic kidney disease.

Journal: iScience
Published: November 17, 2025

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy.

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy.

Journal: Epilepsia
Published: November 05, 2025

Cognitive and Motor Dysfunction in STXBP1 R406H Mice.

Cognitive and Motor Dysfunction in STXBP1 R406H Mice.

Journal: Journal of molecular neuroscience : MN
Published: June 18, 2025

Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot.

Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot.

Journal: Molecular genetics & genomic medicine
Published: January 25, 2025

The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome.

The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome.

Journal: Human molecular genetics
Published: December 24, 2024

Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.

Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.

Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: October 29, 2024

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Journal: EMBO molecular medicine
Published: October 28, 2024

Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models.

Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models.

Journal: Communications biology
Published: October 08, 2024

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

Journal: The Journal of clinical investigation
Published: August 20, 2024
Showing 1-12 of 75

Last Updated: 09/26/2026