Xueshan Xiao

发表

Landscape of pathogenic variants in six pre‐mRNA processing factor genes for retinitis pigmentosa based on large in‐house data sets and database comparisons

Hongmei Jiang, Junwen Wang, Xueshan Xiao, 2022, Acta ophthalmologica.

Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Eye.

Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Molecular medicine reports.

Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2006, Molecular vision.

Sequence variations of GRM6 in patients with high myopia

Xiaoyu Xu, Xueshan Xiao, Shi-qiang Li, 2009, Molecular vision.

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2011, PloS one.

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients

B. Zeng, Wei Zhao, Xueshan Xiao, 2016, Genes.

Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma

Xing Liu, Xueshan Xiao, Shi-qiang Li, 2021, British Journal of Ophthalmology.

Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2018, Journal of Medical Genetics.

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2013, Molecular medicine reports.

CRX variants in cone-rod dystrophy and mutation overview.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Biochemical and biophysical research communications.

The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2007, Investigative ophthalmology & visual science.

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

P. Sieving, I. MacDonald, S. Riazuddin, 2007, Human Genetics.

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

P. Sieving, S. Riazuddin, R. Ayyagari, 2005, Human Genetics.

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2011, Molecular vision.

Replication study supports CTNND2 as a susceptibility gene for high myopia.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Investigative ophthalmology & visual science.

Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2011, Molecular vision.

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

M. Kaiser-Kupfer, J. Heckenlively, D. Schorderet, 2004, American journal of human genetics.

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2020, Molecular vision.

Spectrum, frequency, and genotype–phenotype of mutations in SPATA7

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2019, Molecular vision.

Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2016, Experimental eye research.

Novel RS1 mutations associated with X-linked juvenile retinoschisis

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, International journal of molecular medicine.

Common variants in chromosome 4q25 are associated with myopia in Chinese adults

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

Evaluation of MFRP as a candidate gene for high hyperopia

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2009, Molecular vision.

Identification of MFRP Mutations in Chinese Families with High Hyperopia

Hui Jiang, Jianguo Zhang, Ye Yin, 2015, Optometry and vision science : official publication of the American Academy of Optometry.

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, PloS one.

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Molecular vision.

RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2016, Molecular medicine reports.

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2015, Investigative ophthalmology & visual science.

Truncation mutations in MYRF underlie primary angle closure glaucoma

Z. Tan, J. Hejtmancik, Xueshan Xiao, 2022, Human Genetics.

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

J. Hejtmancik, Xueshan Xiao, Qingjiong Zhang, 2004, Molecular vision.

Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2009, Molecular vision.

Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Frontiers in Cell and Developmental Biology.

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2014, Investigative ophthalmology & visual science.

Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867

Junwen Wang, Xueshan Xiao, Shi-qiang Li, 2022, Investigative ophthalmology & visual science.

DNAH17 is essential for rat spermatogenesis and fertility

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Journal of genetics.

Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2022, Experimental eye research.

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy

J. Li, Xueshan Xiao, Shi-qiang Li, 2017, PloS one.

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, British Journal of Ophthalmology.

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, British Journal of Ophthalmology.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2009, Molecular Vision.

Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Eye.

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Experimental eye research.

Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2020, American journal of ophthalmology.

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early‐onset severe cone–rod dystrophy

Qi Zhang, Hui Jiang, Xinxing Guo, 2016, Clinical genetics.

Mutations in NYX of individuals with high myopia, but without night blindness

Shi-zhou Huang, J. Hejtmancik, Xueshan Xiao, 2007, Molecular vision.

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1

Juan Wang, Xueshan Xiao, Shi-qiang Li, 2010, Molecular vision.

Mutation Survey of Candidate Genes and Genotype–Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld–Rieger Syndrome

Xueshan Xiao, Shi-qiang Li, Xiangming Guo, 2018, Current eye research.

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, International journal of molecular medicine.

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Meixiao Shen, Ting Xie, Fan Lu, 2017, Proceedings of the National Academy of Sciences.

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Molecular medicine reports.

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, Human Genetics.

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Jun Wang, Zhihong Zhu, Jianguo Zhang, 2013, Investigative ophthalmology & visual science.

Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations

X. Jiao, J. Hejtmancik, Xueshan Xiao, 2011, Molecular vision.

Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2023, Genes.

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review

Junwen Wang, Xueshan Xiao, Shi-qiang Li, 2023, International journal of molecular sciences.

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature

Junwen Wang, Xueshan Xiao, Shi-qiang Li, 2023, International journal of molecular sciences.

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome

Peng Wu, Junwen Wang, Xueshan Xiao, 2023, Investigative ophthalmology & visual science.

An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2021, Frontiers in Cell and Developmental Biology.

Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Molecular vision.

Pathogenicity evaluation and the genotype–phenotype analysis of OPA1 variants

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2021, Molecular Genetics and Genomics.

Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Asia-Pacific journal of ophthalmology.

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Molecular vision.

Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2020, Experimental eye research.

Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2012, Ophthalmic genetics.

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Investigative ophthalmology & visual science.

Screening for NDP Mutations in 44 Unrelated Patients with Familial Exudative Vitreoretinopathy or Norrie Disease

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2012, Current eye research.

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism

J. Hejtmancik, Junwen Wang, Xueshan Xiao, 2023, Investigative ophthalmology & visual science.

Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic

Junwen Wang, Xueshan Xiao, Shi-qiang Li, 2023, Frontiers in immunology.

Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients

Q. Kong, A. Salas, Yong-Gang Yao, 2011, PloS one.

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia

Q. Kong, Yong-Gang Yao, Xueshan Xiao, 2010, Molecular vision.

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

H. Bandelt, Ya-ping Zhang, Yong-Gang Yao, 2008, American journal of human genetics.

Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, JAMA ophthalmology.

Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2020, Human Genetics.

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.

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2019, Experimental eye research.

Correspondence to Rossetti et al.'s review of the phenotypic spectrum associated with haploinsufficiency of MYRF

Xueshan Xiao, Wenmin Sun, Qingjiong Zhang, 2019, American journal of medical genetics. Part A.

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2013, Molecular vision.

Pathogenic variants in CEP290 or IQCB1 cause earlier onset retinopathy in Senior-Loken syndrome compared to those in INVS, NPHP3, or NPHP4.

Junwen Wang, Xueshan Xiao, Shi-qiang Li, 2023, American journal of ophthalmology.

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2019, Translational vision science & technology.

Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2015, Investigative ophthalmology & visual science.

Rare variants in novel and known genes associated with primary angle closure glaucoma based on whole exome sequencing of 549 probands.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2019, Journal of genetics and genomics = Yi chuan xue bao.

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2016, Molecular vision.

Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2022, Clinical genetics.

A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2020, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2019, Human molecular genetics.

Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2018, Molecular vision.

Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late‐onset high myopia based on exome sequencing

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2018, Experimental eye research.

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2016, Molecular vision.

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2019, Acta ophthalmologica.

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2011, Biochemical and biophysical research communications.

High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes.

X. Jiao, Xueshan Xiao, Shi-qiang Li, 2009, Investigative ophthalmology & visual science.

Evaluation of EGR1 as a candidate gene for high myopia

Y. Xing, Xueshan Xiao, Shi-qiang Li, 2008, Molecular vision.

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3

Z. Tan, J. Hejtmancik, Xueshan Xiao, 2019, Human Genetics.

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, Investigative ophthalmology & visual science.

A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2005, Molecular vision.

A new locus for autosomal dominant high myopia maps to 4 q 22-q 27 between D 4 S 1578 and D 4 S 1612

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2005 .

Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2020, Current eye research.

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2016, Experimental eye research.

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

Jun Wang, Zhihong Zhu, Jianguo Zhang, 2013, PloS one.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

S. Riazuddin, J. Hejtmancik, Xueshan Xiao, 2004, Molecular vision.

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2006, Journal of Human Genetics.

Nonsyndromic high myopia in a Chinese family mapped to MYP1: linkage confirmation and phenotypic characterization.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2010, Archives of ophthalmology.

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2009, Molecular vision.

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2010, Molecular vision.

Mutation spectrum of PAX6 in Chinese patients with aniridia

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2011, Molecular vision.

PAX6 mutations identified in 4 of 35 families with microcornea.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2012, Investigative ophthalmology & visual science.

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, International journal of molecular medicine.

High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population.

Juan Wang, Xueshan Xiao, Shi-qiang Li, 2011, Molecular medicine reports.

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2010, Molecular vision.

Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2016, Ophthalmic genetics.

Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa

Juan Wang, Xueshan Xiao, Shi-qiang Li, 2010, Current eye research.

An evaluation of OPTC and EPYC as candidate genes for high myopia

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2009, Molecular vision.

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

X. Jiao, J. Hejtmancik, Xueshan Xiao, 2012, Journal of Human Genetics.

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2012, Human Genetics.

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2007, Molecular vision.

Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2014, PloS one.

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Frontiers in Genetics.

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Molecular vision.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2008, Molecular vision.

Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2007, Journal of Human Genetics.

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2006, Journal of Human Genetics.

Mutation analysis of 12 genes in Chinese families with congenital cataracts

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Molecular vision.

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.

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Molecular vision.

Screening for NDP Mutations in 44 Unrelated Patients with Familial Exudative Vitreoretinopathy or Norrie Disease

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2012, Current eye research.

Replication study supports CTNND2 as a susceptibility gene for high myopia.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Investigative ophthalmology & visual science.

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, Investigative ophthalmology & visual science.

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, 2021, Frontiers in Cell and Developmental Biology.

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

P. Sieving, S. Riazuddin, S. Riazuddin, 2005, Molecular vision.

KDF1 is a novel candidate gene of non-syndromic tooth agenesis.

Xinlin Yu, B. Zeng, Wei Zhao, 2019, Archives of oral biology.

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, International journal of molecular medicine.

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Molecular vision.

Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2019, Investigative ophthalmology & visual science.

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Graefe's Archive for Clinical and Experimental Ophthalmology.

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2013, Molecular vision.

Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients

Mingkai Lin, Xing Liu, Hui Xiao, 2018, Acta ophthalmologica.

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, Human Genetics.

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center

Yueye Wang, Xueshan Xiao, Shi-qiang Li, 2022, Investigative ophthalmology & visual science.

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2020, EBioMedicine.

Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, International journal of molecular medicine.

Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation

Xueshan Xiao, Qingjiong Zhang, 2009, American journal of medical genetics. Part A.

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

H. Bandelt, Ya-ping Zhang, Yong-Gang Yao, 2008, American journal of human genetics.

Cone-Rod Dysfunction Is a Sign of Early-Onset High Myopia

Xueshan Xiao, Panfeng Wang, Qingjiong Zhang, 2013, Optometry and vision science : official publication of the American Academy of Optometry.

Linkage analysis of two families with X-linked recessive congenital motor nystagmus

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2006, Journal of Human Genetics.

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early‐onset severe cone–rod dystrophy

Xinxing Guo, Xueshan Xiao, L. Guan, 2016, Clinical genetics.

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Molecular medicine reports.

Clinical features of patients with mutations in genes for nanophthalmos

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2024, The British journal of ophthalmology.

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia

Q. Kong, Yong-Gang Yao, Xueshan Xiao, 2010, Molecular vision.

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2011, Molecular vision.

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2021, Investigative ophthalmology & visual science.