Jianjun Chen

发表

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

M. Yan, Fang Zheng, Z. Zhong, 2016, Scientific Reports.

MITF protects against oxidative damage-induced retinal degeneration by regulating the NRF2 pathway in the retinal pigment epithelium

J. Qu, J. Hejtmancik, L. Hou, 2020, Redox biology.

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

N. Katsanis, E. Berson, S. Riazuddin, 2011, Investigative ophthalmology & visual science.

Genotype-phenotype correlations in Bardet-Biedl syndrome.

M. Sandberg, E. Berson, A. Daniels, 2010, Archives of ophthalmology.

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families

Z. Zhong, Zehua Wu, Liyun Han, 2017, Scientific Reports.

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract

Yanhua Qi, J. Hejtmancik, Hui Lin, 2014, PloS one.

FYCO1 regulates migration, invasion, and invadopodia formation in HeLa cells through CDC42/N-WASP/Arp2/3 signaling pathway.

Z. Zhong, Jianjun Chen, Xiangyuan Liu, 2022, Biochemistry and cell biology = Biochimie et biologie cellulaire.

Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies

Z. Zhong, Jianjun Chen, Xuejiao Sun, 2022, Molecular Genetics and Genomics.

Identification of 12 OCA Cases in Chinese Population and Two Novel Variants

Z. Zhong, Zheng Zhou, Jianjun Chen, 2022, Frontiers in Genetics.

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

M. Kantorow, S. Riazuddin, M. Frydman, 2011, American journal of human genetics.

Identification and functional study of FOXC1 variants in Chinese families with glaucoma

Z. Zhong, Jianjun Chen, Xiangyuan Liu, 2021, American journal of medical genetics. Part A.

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis

Z. Zhong, Zehua Wu, Jianjun Chen, 2019, Pigment cell & melanoma research.

A novel BLOC1S5‐related HPS‐11 patient and zebrafish with bloc1s5 disruption

Zhuanbin Wu, Z. Zhong, Jianjun Chen, 2021, Pigment cell & melanoma research.

Identification of TYR mutations in patients with oculocutaneous albinism.

Z. Zhong, Wan Sun, Liyun Han, 2018, Molecular medicine reports.

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families

Z. Zhong, Zehua Wu, Liyun Han, 2017, Scientific Reports.

PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population

Xiujie Zheng, Delong Meng, Delong Meng, 2019, Molecular medicine reports.

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

Z. Zhong, Jianjun Chen, Zhenping Zhou, 2019, Molecular vision.

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Shaheen N. Khan, S. Riazuddin, X. Jiao, 2017, Investigative ophthalmology & visual science.

OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY

Xiaodong Sun, Su-Qin Yu, Qiang Wu, 2022, Retina.

Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Z. Zhong, Jianjun Chen, Xinyu Liu, 2020, BMC Ophthalmology.

Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS.

Yanli Zhou, Zequan Xu, Danmin Cao, 2019, Gene.

Genotype-phenotype correlations in Bardet-Biedl syndrome.

M. Sandberg, E. Berson, Jianjun Chen, 2012, Archives of ophthalmology.