Author

Carlos A Bacino

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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anita E Beck· 1 shared Brendan H Lee· 1 shared Colby T Marvin· 1 shared Deborah A Nickerson· 1 shared Deborah KrakowiD· 1 shared Jay Shendure· 1 shared Jessica X ChongiD· 1 shared John C Carey· 1 shared

Activity by Year

2015-2015 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anita E Beck

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1 paper

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedMay 1, 2015

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Jessica X Chong, Lindsay C Burrage, Anita E Beck…·Michael J Bamshad

This study identifies mutations in MYH3 as the cause of autosomal dominant multiple pterygium syndrome, with mutations in the tail domain of the protein.

DOI 10.1016/j.ajhg.2015.04.004

humanwhole-exome sequencing

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