Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype-Reference-Cited by-同舟云学术

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Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype

Published:2016-04-11 Issue:6 Volume:11 Page:2247-2253
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:en
Short-container-title:

Author:

LI NIU,DING YU,YU TINGTING,LI JUAN,SHEN YONGNIAN,WANG XIUMIN,FU QIHUA,SHEN YIPING,HUANG XIAODONG,WANG JIAN

Publisher

Spandidos Publications

Subject

Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation;Cell Reports Medicine;2024-02

2. A pan-tissue survey of mosaic chromosomal alterations in 948 individuals;Nature Genetics;2023-10-30

3. First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate;BMC Medical Genomics;2022-06-18

4. Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation;2021-12-17

5. Prenatal diagnosis and genetic counseling of complete uniparental isodisomy of chromosome 3 with no phenotypic abnormalities;Taiwanese Journal of Obstetrics and Gynecology;2020-09

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