Author

Jason O'Rawe

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 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 J Lyon· 1 shared Gholson Lyon· 1 shared Han FangiD· 1 shared Jeffrey Swensen· 1 shared

Activity by Year

2014-2015 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Alan Rope

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2 papers

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedDec 1, 2015

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…·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.

DOI 10.1016/j.ajhg.2015.11.005

humanwhole-genome sequencing

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GeneticsbioRxivPreprintOct 6, 2014

Human genetics and clinical aspects of neurodevelopmental disorders

Gholson J Lyon, Jason O'Rawe

The paper discusses the clinical and genetic aspects of neurodevelopmental disorders, highlighting the challenges in classification and the role of de novo mutations.

DOI 10.1101/000687

human

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