Rongjuan Zhao

Center For Medical Genetics & Hunan Key Laboratory Of Medical Genetics
Changsha, China

Last Updated: 09/26/2026

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Found 9 publications

SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.

SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.

Journal: Journal of cellular and molecular medicine

Published: February 10, 2021

The autism risk gene CNTN4 modulates dendritic spine formation.

The autism risk gene CNTN4 modulates dendritic spine formation.

Journal: Human molecular genetics

Published: December 17, 2020

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

Journal: Human genetics

Published: July 15, 2020

Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping.

Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping.

Journal: Journal of psychiatric research

Published: July 06, 2020

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Journal: Science advances

Published: March 08, 2019

Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.

Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.

Journal: The Journal of dermatology

Published: March 03, 2019

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Journal: Nature communications

Published: November 16, 2018

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Journal: Molecular autism

Published: July 27, 2018

Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.

Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.

Journal: Scientific reports

Published: November 11, 2016

Showing 1-9 of 9

Last Updated: 09/26/2026