Rongjuan Zhao

发表

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

K. Xia, L. Xia, Lu Shen, 2021, Journal of psychiatric research.

Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis

Wei Zhang, Jing-Xue Ma, Junhong Guo, 2021, Neurological Sciences.

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

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

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

K. Xia, Hui Guo, Zhengmao Hu, 2019, The Journal of dermatology.

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

Liangdan Sun, Xuejun Zhang, Jingping Zhao, 2017, Scientific Reports.

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

Bradley P. Coe, B. Coe, C. Baker, 2018, Molecular Autism.

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

Mahshid S. Azamian, J. Rosenfeld, J. Gécz, 2019, Science Advances.

SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis

K. Xia, L. Xia, Hui Guo, 2021, Journal of cellular and molecular medicine.

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

K. Xia, B. Peterlin, R. Maroofian, 2020, Human Genetics.

GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome

Jing-Xue Ma, Wei Zhang, Junhong Guo, 2022, Journal of Neurology.

Type II Alexander disease with fragile X mental retardation 1 gene mutation

Rongjuan Zhao, Sui-Yi Xu, Hui-juan Li, 2021, Clinical Neurology and Neurosurgery.

Hyperhomocysteinemia in patients with riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency

Wei Zhang, Jing-Xue Ma, Junhong Guo, 2023, Muscle & nerve.

Diagnostic utility of different dysphagia screening tools to detect dysphagia in individuals with amyotrophic lateral sclerosis

Wei Zhang, Junhong Guo, Jing Zhang, 2023, Neurological Sciences.