Wenjing J. Zhao

NHC Key Laboratory Of Healthy Birth And Birth Defect Prevention In Western China, Yunnan Provincial Key Laboratory For Birth Defects And Genetic Diseases
Kunming, China

Last Updated: 09/26/2026

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Found 15 publications

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review.

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review.

Journal: Molecular genetics & genomic medicine

Published: January 15, 2026

Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.

Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.

Journal: Frontiers in endocrinology

Published: June 03, 2025

New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.

New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.

Journal: Molecular genetics and genomics : MGG

Published: May 08, 2025

Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family.

Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family.

Journal: Journal of human genetics

Published: February 01, 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

GoFCards: an integrated database and analytic platform for gain of function variants in humans.

GoFCards: an integrated database and analytic platform for gain of function variants in humans.

Journal: Nucleic acids research

Published: August 15, 2024

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.

Journal: Molecular genetics & genomic medicine

Published: January 19, 2023

Genetic analysis of a child with ectodermal dysplasia caused by variant of EDA gene

Genetic analysis of a child with ectodermal dysplasia caused by variant of EDA gene

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: August 03, 2022

The extended theory of planned behavior considering heterogeneity under a connected vehicle environment: A case of uncontrolled non-signalized intersections.

The extended theory of planned behavior considering heterogeneity under a connected vehicle environment: A case of uncontrolled non-signalized intersections.

Journal: Accident; analysis and prevention

Published: May 30, 2020

POGZ de novo missense variants in neuropsychiatric disorders.

POGZ de novo missense variants in neuropsychiatric disorders.

Journal: Molecular genetics & genomic medicine

Published: April 02, 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

Showing 1-12 of 15

Last Updated: 09/26/2026