Author

Chih-Fen Hu

Tri-Service General HospitalORCID 0000-0002-9208-0890Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Chi‐Hsin HsuiD· 2 shared Feng-Chin Lee· 2 shared Jau‐Shyong HongiD· 2 shared San‐Pin WuiD· 2 shared Shih‐Ming HuangiD· 2 shared G. W. Gant LuxtoniD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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2 shared papersGenetics

Chi‐Hsin HsuORCID

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2 papers

Recent·Most cited

Whole exome sequencing identifies novel DYT1 dystonia-associated genome variants as potential disease modifiers

Chih-Fen Hu, G. W. Gant Luxton, Feng-Chin Lee, Chi‐Hsin Hsu, Shih‐Ming Huang, Jau‐Shyong Hong, San‐Pin Wu

The paper identifies novel genome variants associated with DYT1 dystonia through whole exome sequencing and suggests they may modify disease penetrance.

bioRxiv · Mar 15, 2020 · PreprintGenetics

Association of SYNE2 variants in accelerating the progress of DYT1 early-onset isolated dystonia

Feng-Chin Lee, San‐Pin Wu, Chi‐Hsin Hsu, Shih‐Ming Huang, Jau‐Shyong Hong, Chih-Fen Hu

The paper identifies SYNE2 variants associated with earlier onset of DYT1 dystonia by affecting TOR1A-SYNE2 protein interactions in a family with TOR1A mutations.

bioRxiv · Oct 17, 2019 · PreprintGenetics