Jing Cheng

发表

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

J. Seidman, M. Bitner-Glindzicz, Xiangyin Kong, 2010, American journal of human genetics.

A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy

S. Inoue, A. Laude, K. Nishida, 2016, Nature Genetics.

KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects

Guo-jian Wang, Yongyi Yuan, Shasha Huang, 2014, PloS one.

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

Lei Zhang, Huijun Yuan, Jing Cheng, 2016, PloS one.

Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.

Wei Li, X. Liu, K. Wrzeszczynski, 2011, American journal of human genetics.

A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.

Long-xia Wang, Aijun Liu, Huijun Yuan, 2015, International journal of clinical and experimental pathology.

An association study of the COL1A1 gene and high myopia in a Han Chinese population

B. Gong, Zhenglin Yang, Yi Shi, 2011, Molecular vision.

A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Xianjun Zhu, Lulin Huang, Xiaoqi Liu, 2013, PloS one.

The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese

Yang Zhenglin, W. Haiyan, Jing Cheng, 2012, BMC Medical Genetics.

Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness

Huijun Yuan, Dongyi Han, Jing Cheng, 2018, Acta oto-laryngologica.

Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations

S. Levy, R. Recker, H. Deng, 2009, PloS one.

A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing

Jing Cheng, Guang Yang, Li Zhu, 2015, Journal of Human Genetics.

Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population

Lulin Huang, Zhenglin Yang, Yi Shi, 2017, BMC Medical Genetics.

Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome

Wei Liu, Huijun Yuan, Dongyi Han, 2017, Acta oto-laryngologica.

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

Yi Zhao, Yu Lu, Huijun Yuan, 2021, Molecular genetics & genomic medicine.

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

P. Dai, Huijun Yuan, Jianzhong Li, 2011, Journal of genetics and genomics = Yi chuan xue bao.

Genetic variants in the HLA-DRB1 gene are associated with Kashin-Beck disease in the Tibetan population.

X. Yang, Lulin Huang, Xiaoqi Liu, 2011, Arthritis and rheumatism.

Exome Sequencing Identifies ZNF644 Mutations in High Myopia

Huanming Yang, Jun Wang, Yingrui Li, 2011, PLoS genetics.

Mutation in SSUH2 Causes Autosomal‐Dominant Dentin Dysplasia Type I

Qiuxia Yu, Lingling Hu, Xiangmin Xu, 2017, Human mutation.

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

W. Liu, Jun Xie, Lulin Huang, 2012, PloS one.

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

G. Tian, Mao‐nian Zhang, Xin Jin, 2012, PloS one.

Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment

P. Dai, Huijun Yuan, Dongyi Han, 2013, PloS one.

Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci

Xiangding Chen, S. Lei, Yao-Zhong Liu, 2009, Human Genetics.

Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss

Huijun Yuan, Dongyi Han, Jing Cheng, 2022, Acta oto-laryngologica.

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

Yu Chen, Huijun Yuan, Jing Cheng, 2018, Disease markers.

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II

Jing Wang, Yu-fang Rao, Yu Zhao, 2021, Molecular genetics & genomic medicine.

The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population.

Lei Zhang, Yongchu Pan, Lin Wang, 2017, Journal of genetics.

Identification of a novel TCOF 1 mutation in a Chinese family with Treacher Collins syndrome

Huijun Yuan, Dongyi Han, Jing Cheng, 2022 .

Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

Yongchu Pan, Yuxi Zhou, Yimin Sun, 2016, Gene.

Genome-wide association study identiﬁes a new susceptibility locus for cleft lip with or without a cleft palate

Hongbing Shen, Junqing Ma, Yimin Sun, 2022 .

Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis.

Yan Guo, Tie-Lin Yang, Meng Li, 2008, American journal of human genetics.

Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 as the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese Family

Xuegong Zhang, P. Sham, J. Chen, 2014, Annals of human genetics.

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches

Xuegong Zhang, K. Choy, Xueya Zhou, 2014, Journal of Human Genetics.

Gene screening facilitates diagnosis of complicated symptoms: A case report

Huijun Yuan, Jing Cheng, Yu Lu, 2017, Molecular Medicine Reports.

Validation of a genome-wide association study implied that SHTIN1 may involve in the pathogenesis of NSCL/P in Chinese population

Lei Zhang, Yongchu Pan, Lin Wang, 2016, Scientific Reports.

A genome wide association study between copy number variation (CNV) and human height in Chinese population.

Xiangding Chen, S. Lei, Yao-Zhong Liu, 2010, Journal of genetics and genomics = Yi chuan xue bao.

Identification of mobile element insertion from whole genome sequencing data using deep neural network model

Xuegang Wang, Huijun Yuan, Jing Cheng, 2023, bioRxiv.

Genome-wide association study identifies two new susceptibility loci for colorectal cancer at 5q23.3 and 17q12 in Han Chinese

Hongbing Shen, Zhibin Hu, J. Ji, 2015, Oncotarget.

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

J. Chen, X. Liu, D. Yan, 2011, Journal of Human Genetics.

Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3)

Yuanqing Yao, Huijun Yuan, Dongyi Han, 2013, PloS one.

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.

D. Kang, P. Dai, Huijun Yuan, 2010, Journal of genetics and genomics = Yi chuan xue bao.

Association Study of Polymorphisms in Selenoprotein Genes and Kashin–Beck Disease and Serum Selenium/Iodine Concentration in a Tibetan Population

Lulin Huang, Xiaoqi Liu, B. Gong, 2013, PloS one.

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.

Dean Y. Li, Liangdan Sun, X. Zuo, 2011, American journal of human genetics.

The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.

Li Wang, Jing Cheng, Guang Yang, 2019, International journal of pediatric otorhinolaryngology.

Evaluation of MMP2 as a candidate gene for high myopia

Lulin Huang, Xiaoqi Liu, B. Gong, 2013, Molecular vision.

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss

Huijun Yuan, Jing Cheng, Yu Lu, 2019, Molecular genetics & genomic medicine.

A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.

Liangdan Sun, X. Zuo, Xuejun Zhang, 2013, Human molecular genetics.

A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.

Wan Du, Zhengwen Jiang, Huijun Yuan, 2014, Genomics.

Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.

J. Chen, B. Han, Guo-jian Wang, 2008, Mitochondrion.

Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.

D. Kang, P. Dai, M. Guan, 2007, Biochemical and biophysical research communications.

Genetic association study between INSULIN pathway related genes and high myopia in a Han Chinese population

Xiaoqi Liu, B. Gong, Zhenglin Yang, 2014, Molecular Biology Reports.

The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the $$\varvec{GLI3}$$GLI3 gene in a Chinese population

Lei Zhang, Yongchu Pan, Lin Wang, 2017, Journal of Genetics.

DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss

Richard J. H. Smith, H. Azaiez, K. Booth, 2022, Human Genetics.

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.

Liangdan Sun, X. Zuo, Peiquan Zhao, 2011, American journal of human genetics.

Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.

Wei Li, X. Liu, K. Wrzeszczynski, 2011, American journal of human genetics.