Author

Reid Robison

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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-genome sequencing· 1

Frequent Co-Authors

Alan Rope· 1 shared David Mittelman· 1 shared Edward Yang· 1 shared Gareth Highnam· 1 shared Gholson Lyon· 1 shared Han FangiD· 1 shared Jason O'Rawe· 1 shared Jeffrey Swensen· 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

Alan Rope

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1 paper

Recent·Most cited

A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Jason O'Rawe, Yiyang Wu, Alan Rope, Laura T. Jimenez Barrón, Jeffrey Swensen, Han Fang, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Kai Wang, Gholson Lyon

The paper identifies a maternally inherited TAF1 variant in two brothers with severe intellectual disability and distinctive facial features, linking it to a new syndrome.

The American Journal of Human Genetics · Dec 1, 2015Peer-reviewedGenetics