Author

Yen Kim Bui

Gladstone InstitutesORCID 0000-0002-7540-0602Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aryé Elfenbein· 1 shared Casey A. GiffordiD· 1 shared Deepak SrivastavaiD· 1 shared Hazel T. SalungaiD· 1 shared Kathryn N. IveyiD· 1 shared Kimberly R. Cordes MetzleriD· 1 shared Philip C. Ursell· 1 shared Ping ZhouiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Aryé Elfenbein

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1 paper

Recent·Most cited

Oligogenic inheritance of congenital heart disease involving a NKX2-5 modifier

Casey A. Gifford, Sanjeev S. Ranade, Ryan Samarakoon, Hazel T. Salunga, Yvanka de Soysa, Yu Huang, Ping Zhou, Aryé Elfenbein, Stacia K. Wyman, Yen Kim Bui, Kimberly R. Cordes Metzler, Philip C. Ursell, Kathryn N. Ivey, Deepak Srivastava

The paper shows that a congenital heart defect can result from three inherited heterozygous missense variants in MYH7, MKL2, and NKX2-5.

bioRxiv · Feb 20, 2018 · PreprintGenetics