Literature DB >> 31377238

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

Wenmin Sun1, Xueshan Xiao1, Shiqiang Li1, Jiamin Ouyang1, Xueqing Li1, Xiaoyun Jia1, Xing Liu2, Qingjiong Zhang3.   

Abstract

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Year:  2019        PMID： 31377238     DOI： 10.1016/j.jgg.2019.06.004

Source DB:  PubMed          Journal:  J Genet Genomics        ISSN： 1673-8527            Impact factor:   4.275


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  6 in total

1.  Truncation mutations in MYRF underlie primary angle closure glaucoma.

Authors:  Jiamin Ouyang; Wenmin Sun; Huangxuan Shen; Xing Liu; Yingchen Wu; Hongmei Jiang; Xueqing Li; Yingwei Wang; Yi Jiang; Shiqiang Li; Xueshan Xiao; J Fielding Hejtmancik; Zhiqun Tan; Qingjiong Zhang
Journal:  Hum Genet       Date:  2022-09-21       Impact factor: 5.881

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

Authors:  Wenmin Sun; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Qingjiong Zhang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2021-04-27       Impact factor: 3.117

3.  Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities.

Authors:  Meirong Yang; Xiaosheng Lu; Ye Zhang; Changchen Wang; Zhen Cai; Zhengyong Li; Bo Pan; Haiyue Jiang
Journal:  Mol Genet Genomic Med       Date:  2021-04-03       Impact factor: 2.183

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

Authors:  Yi Jiang; Jiamin Ouyang; Xueqing Li; Yingwei Wang; Lin Zhou; Shiqiang Li; Xiaoyun Jia; Xueshan Xiao; Wenmin Sun; Panfeng Wang; Qingjiong Zhang
Journal:  Front Cell Dev Biol       Date:  2021-12-01

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

Authors:  Wenmin Sun; Shiqiang Li; Xueshan Xiao; Panfeng Wang; Qingjiong Zhang
Journal:  Mol Vis       Date:  2020-08-22       Impact factor: 2.367

Review 6.  Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.

Authors:  Ryan Zukerman; Alon Harris; Alice Verticchio Vercellin; Brent Siesky; Louis R Pasquale; Thomas A Ciulla
Journal:  Genes (Basel)       Date:  2020-12-31       Impact factor: 4.096
  6 in total

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