Jian-Guo Zhang

发表

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

L. Guan, Xue Gao, Qing-yan Zhu, 2013, Journal of Translational Medicine.

Gene prioritization based on systems biology revealed new insight into genetic basis and pathophysiology underlying schizophrenia

Liang Liang, Huan-ming Yang, Jian-Guo Zhang, 2020, medRxiv.

disease and macrothrombocytopenia Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory

K. J. Henley, P. Nurden, A. D. Panopoulos, 2013 .

Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia.

K. J. Henley, M. Justice, P. Nurden, 2007, Blood.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

K. Xia, B. Tang, Zhengmao Hu, 2011, Brain : a journal of neurology.

A phenotype-specific framework for identifying the eye abnormalities causative nonsynonymous-variants

C. Ye, Huan-ming Yang, L. Guan, 2020, bioRxiv.

A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.

Rong-Rong Liu, M. Fang, Jian-Guo Zhang, 2015, International journal of ophthalmology.

A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.

Huan-ming Yang, Xiaoyan Huang, Jian-kang Li, 2018, International journal of ophthalmology.

RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family

Jian-Guo Zhang, Xian-ning Zhang, Xiao-ling Chen, 2011, PloS one.

Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.

K. Xia, B. Tang, Xinxiang Yan, 2013, European journal of medical genetics.

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

Jian-kang Li, Feng-Juan Gao, Shenghai Zhang, 2020, Investigative ophthalmology & visual science.

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

L. Guan, Xue Gao, Guo-jian Wang, 2015, PloS one.

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

Xiaoyan Huang, Jian-kang Li, L. Tellier, 2017, Molecular vision.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

L. Guan, Xue Gao, Qing-yan Zhu, 2013, Journal of Translational Medicine.

A bioinformatic study revealed serotonergic neurons are involved in the etiology and therapygenetics of anxiety disorders

Jian-Guo Zhang, Han-Kui Liu, Sijia He, 2021, Translational Psychiatry.

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations

Ling Xu, Jian-kang Li, Wei Li, 2020, Molecular genetics & genomic medicine.

Variants in SBF1, CELSR2, and TENM1 are associated with childhood epileptic encephalopathies

Sheng, J. Chen, Yinwei Qu, 2023, medRxiv.