X. Sheng

发表

IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.

B. Yan, Xue Chen, Xiaoguang Wang, 2018, Investigative ophthalmology & visual science.

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

B. Yan, Xue Chen, Chao Jiang, 2018, Journal of Translational Medicine.

Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

Kanxing Zhao, Xue Chen, X. Sheng, 2014, PloS one.

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity

B. Yan, Wenjuan Zhuang, Qingshun Zhao, 2017, Genetics in Medicine.

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability

M. Furuno, K. Ikeo, S. Hattori, 2016, Scientific Reports.

Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population

X. Sheng, Shiqin Yuan, DONG MEI Li, 2022, BMC Ophthalmology.

A Multi-Center, Cross-Sectional Study on the Burden of Infectious Keratitis in China

Yanning Yang, Jianjiang Xu, X. Sheng, 2014, PloS one.

Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.

Wenjuan Zhuang, X. Sheng, W. Rong, 2008, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.

Jianping Ye, K. Yoshitake, T. Iwata, 2020, Human molecular genetics.

Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

X. Sheng, Ya-ni Liu, Huiping Li, 2013, International journal of ophthalmology.

Hereditary Eye Disease in Ningxia Hui Autonomous Region of China

X. Sheng, Huiping Li, W. Rong, 2018, Essentials in Ophthalmology.

Study on gene knockout mice and human mutant individual reveals absence of CEP78 causes photoreceptor and sperm flagella impairments

Xuejiang Guo, Yueshuai Guo, Xue Chen, 2022, bioRxiv.

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome

Xiaolong Qi, X. Sheng, Shiqin Yuan, 2022, BMC Ophthalmology.

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography

X. Sheng, Huiping Li, Xiao-yu Huang, 2022, Frontiers in Genetics.

Survey report on keratoplasty in China: A 5-year review from 2014 to 2018

Ting Huang, Limei Liu, Pengcheng Wu, 2020, PloS one.

Prevalence and associated factors of corneal blindness in Ningxia in northwest China.

Xiaomei Bi, X. Sheng, Huiping Li, 2014, International journal of ophthalmology.

CEP78 is mutated in a distinct type of Usher syndrome

Yumei Li, Rui Chen, Mingchu Xu, 2016, Journal of Medical Genetics.

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

B. Yan, Xue Chen, Chao Jiang, 2018, Journal of Translational Medicine.

Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

Chen Zhao, R. Chen, Hui Wang, 2015, Journal of Translational Medicine.

Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Kanxing Zhao, Xue Chen, X. Sheng, 2014, PloS one.

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

D. Vollrath, T. Lai, Kanxing Zhao, 2013, Investigative ophthalmology & visual science.

Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations

X. Sheng, B. Lei, Ya Li, 2021, Frontiers in Cell and Developmental Biology.

Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene.

Xiaoguang Wang, X. Sheng, Shiqin Yuan, 2020, International journal of ophthalmology.

Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia

Xiaolong Qi, X. Sheng, Shiqin Yuan, 2023, Frontiers in Genetics.

Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family

X. Sheng, Shuang Zhang, X. Xia, 2022, Cells.

PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

D. Vollrath, Kanxing Zhao, C. Pang, 2014, Human molecular genetics.

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

Rui Qi, X. Sheng, W. Rong, 2022, Molecular genetics & genomic medicine.

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family

Wenjuan Zhuang, X. Sheng, Zi-li Li, 2010, Molecular vision.

Causes of Visual Impairment and Blindness in the 2006 and 2014 Nine-Province Surveys in Rural China.

M. He, L. Ellwein, Peizeng Yang, 2019, American journal of ophthalmology.

Cataract Surgical Coverage and Visual Acuity Outcomes in Rural China in 2014 and Comparisons With the 2006 China Nine-Province Survey.

M. He, L. Ellwein, Peizeng Yang, 2018, American journal of ophthalmology.

Prevalence of Vision Impairment in Older Adults in Rural China in 2014 and Comparisons With the 2006 China Nine-Province Survey.

M. He, L. Ellwein, Peizeng Yang, 2018, American journal of ophthalmology.

Eye-preserving therapies for advanced retinoblastoma: a multicenter cohort of 1678 patients in China.

Xianqun Fan, Juan Ye, Zhangsheng Yu, 2021, Ophthalmology.

Two novel PDE6C gene mutations in Chinese family with achromatopsia

Xiaoguang Wang, Rui Qi, X. Sheng, 2020, Ophthalmic genetics.

Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation

X. Sheng, Ya-ni Liu, Huiping Li, 2015, Ophthalmic genetics.

Association of insulin-like growth factor-1 polymorphisms with high myopia in the Chinese population

W. Xiang, Peizeng Yang, Jing-jing Zhao, 2012, Molecular vision.

[Evaluation of toxicity of manganese ions to rabbit retina].

Y. Li, Zhi-zhong Ma, Yun-tao Hu, 2010, [Zhonghua yan ke za zhi] Chinese journal of ophthalmology.

Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population

W. Xiang, Ying Han, Jing-jing Zhao, 2014, Ophthalmic genetics.

A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy

Xiaojun Bi, Shangyi Fu, Rui Qi, 2021, Ophthalmic genetics.

FGFR2 mutation in a Chinese family with unusual Crouzon syndrome.

Wenjuan Zhuang, Wei Zhao, Xue Chen, 2016, International journal of ophthalmology.

Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

Rui Chen, Hui Wang, Peizeng Yang, 2015, Journal of Translational Medicine.

Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

Hui Jiang, Jianguo Zhang, Kanxing Zhao, 2015, JAMA ophthalmology.

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

Chen Zhao, Kanxing Zhao, Xue Chen, 2015, Scientific Reports.

Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy

Chen Zhao, Xue Chen, Chao Jiang, 2016, Scientific Reports.

Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual

Xuejiang Guo, Yueshuai Guo, Xue Chen, 2023, eLife.

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Xiaolong Qi, X. Sheng, W. Rong, 2023, BMC Medical Genomics.

Contemporary update of retinoblastoma in China: Three-decade changes in epidemiology, clinical features, treatments and outcomes.

Xianqun Fan, Juan Ye, Chuandi Zhou, 2021, American journal of ophthalmology.

Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

X. Sheng, Shiqin Yuan, W. Rong, 2021, International journal of ophthalmology.

IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.

B. Yan, Xue Chen, Xiaoguang Wang, 2018, Investigative ophthalmology & visual science.

Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

X. Sheng, W. Rong, Zhen Li, 2023, Frontiers in genetics.

[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].

X. Sheng, Ya-ni Liu, Huiping Li, 2014, [Zhonghua yan ke za zhi] Chinese journal of ophthalmology.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family

X. Sheng, Huiping Li, W. Rong, 2024, Frontiers in genetics.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

Xiaolong Qi, X. Sheng, Xuhui Wang, 2024, BMC medical genomics.