Xiao-yun Jia

发表

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

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

Is Mitochondrial tRNAphe Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

H. Bandelt, Yong-Gang Yao, Shi-qiang Li, 2011, PloS one.

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.

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.

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.

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.

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance

Shi-qiang Li, Wenmin Sun, Panfeng Wang, 2022, British Journal of Ophthalmology.

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.

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.

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.

No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A

Yong-Gang Yao, Qingjiong Zhang, Xiao-yun Jia, 2010, Human Genetics.

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.

Rapid synthesis of vertically-aligned zinc oxide nanorods on stainless steel for non-enzymatic glucose and H2O2 photoelectrochemical sensor

Wei Liu, Xiao-yun Jia, Weiting Zhan, 2019, Applied Surface Science.

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy

C. Jin, Junwen Wang, Shi-qiang Li, 2022, Investigative ophthalmology & visual science.

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.

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.

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.

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.

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.

Pathogenicity evaluation and the genotype–phenotype analysis of OPA1 variants

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

Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy

Yong-Gang Yao, Qingjiong Zhang, R. Bi, 2012, Molecular vision.

The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.

Q. Kong, Yong-Gang Yao, Shi-qiang Li, 2010, Biochemical and biophysical research communications.

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.

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.

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis

Jie-ming Li, Shi-qiang Li, Xiangming Guo, 2014, Molecular vision.

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 Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T>C

Yong-Gang Yao, Shi-qiang Li, Qingjiong Zhang, 2010, PloS one.

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia

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

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

Yong-Gang Yao, Qingjiong Zhang, Xiangming Guo, 2009, Biochemical and biophysical research communications.

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.

mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation.

Yong-Gang Yao, Qingjiong Zhang, Xiao-yun Jia, 2007, Biochemical and biophysical research communications.

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.

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

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

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.

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.

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia

X. Jiao, J. Hejtmancik, Junwen Wang, 2023, Investigative ophthalmology & visual science.

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.

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.

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.

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.

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.

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.

[The SNPs analysis of encoding sequence of interacting factor gene in Chinese population].

Wei Li, Li Guo, Jiang Li, 2003, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus

Shi-qiang Li, Xiangming Guo, Xiao-yun Jia, 2017, Molecular medicine reports.

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.

GPR143 mutations in Chinese patients with ocular albinism type 1

Xiuhua Jia, Shi-qiang Li, Xiangming Guo, 2017, Molecular medicine reports.

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.

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A.

Q. Kong, Ya-ping Zhang, Yong-Gang Yao, 2008, Mutation research.

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.

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.

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.

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.

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Yong-Gang Yao, Qingjiong Zhang, Xiangming Guo, 2012, Journal of Translational Medicine.

mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population.

Shi-qiang Li, Panfeng Wang, Qingjiong Zhang, 2010, Biochemical and biophysical research communications.

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

Ya-ping Zhang, Yong-Gang Yao, Qingjiong Zhang, 2010, neurogenetics.

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

Yong-Gang Yao, Qingjiong Zhang, Xiangming Guo, 2009, Biochemical and biophysical research communications.

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.

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.

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.

Severe exudative vitreoretinopathy as a common feature for CTNNB1, KIF11 and NDP variants plus sector degeneration for KIF11.

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