Author

Fengxia Yao

Chinese Academy of Medical Sciences & Peking Union Medical College

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna MatyniaiD· 1 shared Fernanda Belga Ottoni PortoiD· 1 shared Irma López· 1 shared Jongsu ChoiiD· 1 shared Keqing Wang· 1 shared Kerry GoetziD· 1 shared Mark Edward PennesiiD· 1 shared Meng Wang· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anna MatyniaORCID

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1 paper

Recent·Most cited

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark Edward Pennesi, Paul G Yang, Molly H. Marra, Robert Karel Koenekoop, Irma López, Anna Matynia, Michael B. Gorin, Ruifang Sui, Fengxia Yao, , Rui Chen

This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.

Human Molecular Genetics · Feb 22, 2023Peer-reviewedGenetics