Author

John G. Willoughby

Flinders University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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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

Deepa Ajay TaranathiD· 1 shared Emmanuelle SouzeauiD· 1 shared Jamie E. CraigiD· 1 shared Jo Black· 1 shared John Pater· 1 shared Karen M. LoweriD· 1 shared Kathryn P. BurdoniD· 1 shared Owen M. SiggsiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Deepa Ajay TaranathORCID

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1 paper

Recent·Most cited

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

Owen M. Siggs, Shari Javadiyan, Shiwani Sharma, Emmanuelle Souzeau, Karen M. Lower, Deepa Ajay Taranath, Jo Black, John Pater, John G. Willoughby, Kathryn P. Burdon, Jamie E. Craig

The paper identifies a partial duplication of the CRYBB1-CRYBA4 locus as a cause of autosomal dominant congenital cataract through copy number variant analysis in a pedigree.

European Journal of Human Genetics · Mar 8, 2017Peer-reviewedGenetics