Xueqing Li

发表

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.

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.

Truncation mutations in MYRF underlie primary angle closure glaucoma

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

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.

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.

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 features of retinoschisis in 120 families with RS1 mutations

Shi-qiang Li, Wenmin Sun, Panfeng Wang, 2021, British Journal of Ophthalmology.

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.

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.

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

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

Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone

Qingjiong Zhang, Xueqing Li, 2020, Ophthalmic genetics.

Defect of TIMP4 Is Associated with High Myopia and Participates in Rat Ocular Development in a Dose-Dependent Manner

Panfeng Wang, Qingjiong Zhang, Zhen Yi, 2023, International journal of molecular sciences.

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.

Clinical features of patients with mutations in genes for nanophthalmos

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