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Xueshan Xiao · SciRah

Researcher profile · Semantic Scholar

Xueshan Xiao

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Xueshan Xiao — researcher profile on SciRah

h-index: 39
Works: 193
Citations: 4,935

Most-cited papers

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia
Zi-Bing Jin, Jinyu Wu, Xiu-Feng Huang, Chun-Yun Feng +20 more
2017Proceedings of the National Academy of Sciences of the United States of America91 citations Open access
Semantic Scholar
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy
Huan Hu, Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia +2 more
2015British Journal of Ophthalmology77 citations Open access
Semantic Scholar
X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia
Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia, Xiangming Guo +1 more
2016Molecular Vision76 citations
Semantic Scholar
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
Li Huang, Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia +6 more
2016Experimental Eye Research67 citations
Semantic Scholar
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases
Pan-Feng Wang, Shi-qiang Li, Wenmin Sun, Xueshan Xiao +5 more
2019Translational Vision Science & Technology66 citations Open access
Semantic Scholar
Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.
Jia-Li Li, Bei Gao, L. Guan, Xueshan Xiao +9 more
2015Investigative Ophthalmology and Visual Science53 citations
Semantic Scholar
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late‐onset high myopia based on exome sequencing
Lin Zhou, Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia +1 more
2018Experimental Eye Research50 citations
Semantic Scholar
Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia
Jia-Li Li, Bei Gao, Xueshan Xiao, Shi-qiang Li +4 more
2016Molecular Vision47 citations
Semantic Scholar
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection
Jiamin Ouyang, Wenmin Sun, Xueshan Xiao, Shi-qiang Li +4 more
2019Human Molecular Genetics38 citations Open access
Semantic Scholar
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing
Yan Xu, L. Guan, Xueshan Xiao, Jian-Guo Zhang +8 more
2015Molecular Vision37 citations
Semantic Scholar
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Wenmin Sun, Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia +2 more
2019Investigative Ophthalmology and Visual Science33 citations Open access
Semantic Scholar
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Yan Xu, Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia +6 more
2016Experimental Eye Research33 citations
Semantic Scholar
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients
Binghui Zeng, Xueshan Xiao, Si-Jie Li, Hui-Ling Lu +4 more
2016Genes33 citations Open access
Semantic Scholar
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
Wenmin Sun, Shi-qiang Li, Xueshan Xiao, Pan-Feng Wang +1 more
2020Molecular Vision30 citations
Semantic Scholar
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shi-qiang Li +4 more
2019Human Genetics30 citations Open access
Semantic Scholar
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients
Jing-Yi Luo, Ming-Kai Lin, Xin-Xing Guo, Xueshan Xiao +13 more
2018Acta ophthalmologica30 citations
Semantic Scholar
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Zhen Yi, Xueshan Xiao, Shi-qiang Li, Wenmin Sun +1 more
2019Experimental Eye Research29 citations Open access
Semantic Scholar
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China
Shi-qiang Li, Xueshan Xiao, Zhen Yi, Wenmin Sun +2 more
2019Acta ophthalmologica28 citations Open access
Semantic Scholar
Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
Lin Zhou, Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia +6 more
2018Molecular Vision28 citations
Semantic Scholar
KDF1 is a novel candidate gene of non-syndromic tooth agenesis.
Binghui Zeng, Hui-Ling Lu, Xueshan Xiao, Xin-Lin Yu +4 more
2019Archives of Oral Biology27 citations
Semantic Scholar
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early‐onset severe cone–rod dystrophy
Yan Xu, L. Guan, Xueshan Xiao, Jin Zhang +7 more
2016Clinical Genetics27 citations
Semantic Scholar
Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
Hualei Luo, Xueshan Xiao, Shi-qiang Li, Wenmin Sun +3 more
2020Experimental Eye Research26 citations Open access
Semantic Scholar
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy
Ya-Di Li, J. Li, Xiao-yun Jia, Xueshan Xiao +2 more
2017PLoS ONE23 citations Open access
Semantic Scholar
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
Yi Jiang, Xueshan Xiao, Wenmin Sun, Ying-Wei Wang +5 more
2024Journal of Translational Medicine20 citations Open access
Semantic Scholar
Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review
Junxing Yang, Lin Zhou, Jiamin Ouyang, Xueshan Xiao +3 more
2021Frontiers in Genetics20 citations Open access
Semantic Scholar
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
Ying-Wei Wang, Wenmin Sun, Xueshan Xiao, Shi-qiang Li +3 more
2020American journal of ophthalmology-glaucoma20 citations Open access
Semantic Scholar
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis
Zhen Yi, Jiamin Ouyang, Wenmin Sun, Xueshan Xiao +4 more
2018Journal of Medical Genetics20 citations
Semantic Scholar
A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome
Wenmin Sun, Xueshan Xiao, Shi-qiang Li, Xiao-yun Jia +1 more
2020Ophthalmic & physiological optics18 citations
Semantic Scholar
Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families
Dong-Wei Guo, Shi-qiang Li, Xueshan Xiao, Yi Jiang +9 more
2024Investigative Ophthalmology and Visual Science17 citations Open access
Semantic Scholar
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations
Sai-Nan Xiao, Wenmin Sun, Xueshan Xiao, Shi-qiang Li +8 more
2021British Journal of Ophthalmology17 citations
Semantic Scholar
Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma
Xueqing Li, Wenmin Sun, Xueshan Xiao, L. Fang +3 more
2021British Journal of Ophthalmology16 citations
Semantic Scholar
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes
Yuxiang Zheng, Pan-Feng Wang, Shi-qiang Li, Yuxi Long +9 more
2024Brain : a journal of neurology15 citations Open access
Semantic Scholar
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions
Junwen Wang, Xueshan Xiao, Shi-qiang Li, Pan-Feng Wang +2 more
2021Frontiers in Cell and Developmental Biology15 citations Open access
Semantic Scholar
DNAH17 is essential for rat spermatogenesis and fertility
Liling Chen, Jiamin Ouyang, Xueqing Li, Xueshan Xiao +5 more
2021Journal Genetika15 citations
Semantic Scholar
Mutation Survey of Candidate Genes and Genotype–Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld–Rieger Syndrome
Xun Wang, Xing Liu, Li-Qin Huang, Shao-Hua Fang +4 more
2018Current Eye Research15 citations Open access
Semantic Scholar
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa.
Xing Liu, Jia-Li Li, Shu-Fen Lin, Xueshan Xiao +9 more
2020Experimental Eye Research14 citations
Semantic Scholar
Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.
T. Shen, L. Guan, Shi-qiang Li, Jian-Guo Zhang +6 more
2015Molecular Medicine Reports14 citations Open access
Semantic Scholar
Landscape of pathogenic variants in six pre‐mRNA processing factor genes for retinitis pigmentosa based on large in‐house data sets and database comparisons
Junwen Wang, Xueshan Xiao, Shi-qiang Li, Hong-Mei Jiang +3 more
2022Acta ophthalmologica13 citations
Semantic Scholar
Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa
Zhen Yi, Jiamin Ouyang, Wenmin Sun, Shi-qiang Li +2 more
2020EBioMedicine13 citations Open access
Semantic Scholar
Identification of MFRP Mutations in Chinese Families with High Hyperopia
Yan Xu, L. Guan, Xueshan Xiao, Jian-Guo Zhang +7 more
2015Optometry and Vision Science13 citations
Semantic Scholar
An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline
Pan-Feng Wang, Xiao-yun Jia, Xueshan Xiao, Shi-qiang Li +6 more
2021Frontiers in Cell and Developmental Biology12 citations Open access
Semantic Scholar
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Zhen Yi, Wenmin Sun, Xueshan Xiao, Shi-qiang Li +5 more
2021Experimental Eye Research12 citations
Semantic Scholar
Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing
W. Xin, Xueshan Xiao, Shi-qiang Li, Qing-Jiong Zhang
2016Ophthalmic Genetics12 citations
Semantic Scholar
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review
Ying-Wei Wang, Junwen Wang, Yi Jiang, Di Zhu +8 more
2023International Journal of Molecular Sciences11 citations Open access
Semantic Scholar
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
Ying-Wei Wang, Wenmin Sun, Xueshan Xiao, Yi Jiang +8 more
2023Investigative Ophthalmology and Visual Science11 citations Open access
Semantic Scholar
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center
Ying-Wei Wang, Wenmin Sun, Jing Zhou, Xueqing Li +13 more
2022Investigative Ophthalmology and Visual Science11 citations Open access
Semantic Scholar
Severe exudative vitreoretinopathy as a common feature for CTNNB1, KIF11 and NDP variants plus sector degeneration for KIF11.
Junxing Yang, Xueshan Xiao, Shi-qiang Li, Gui-Ying Mai +4 more
2021American journal of ophthalmology-glaucoma11 citations
Semantic Scholar
Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration
Ying-Wei Wang, Pan-Feng Wang, Shi-qiang Li, Jiamin Ouyang +6 more
2021Investigative Ophthalmology and Visual Science11 citations Open access
Semantic Scholar
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR
Junxing Yang, Xueshan Xiao, Wenmin Sun, Shi-qiang Li +2 more
2020Current Eye Research11 citations
Semantic Scholar
Rare variants in novel and known genes associated with primary angle closure glaucoma based on whole exome sequencing of 549 probands.
Wenmin Sun, Xueshan Xiao, Shi-qiang Li, Jiamin Ouyang +4 more
2019Journal of genetics and genomics = Yi chuan xue bao11 citations
Semantic Scholar

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Qing-Jiong Zhang×45
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Shi-qiang Li×44
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Xiao-yun Jia×33
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Jiamin Ouyang×13

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Xiangming Guo×11

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Ying-Wei Wang×8

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Xueqing Li — researcher profile on SciRah

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Yan Xu — researcher profile on SciRah