Author

John Pater

Flinders University

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· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Deepa Ajay TaranathiD· 2 shared Emmanuelle SouzeauiD· 2 shared Jamie E. CraigiD· 2 shared Kathryn P. BurdoniD· 2 shared Owen M. SiggsiD· 2 shared Shari Javadiyan· 2 shared Alex William HewittiD· 1 shared Andrew DubowskyiD· 1 shared

Activity by Year

2017-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Deepa Ajay TaranathORCID

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2 papers

Recent·Most cited

Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic CPAMD8 variants

Owen M. Siggs, Emmanuelle Souzeau, Deepa Ajay Taranath, Andrew Dubowsky, Angela Chappell, Tiger Zhou, Shari Javadiyan, Jillian K. Nicholl, Lisa S. Kearns, Sandra Elfride Staffieri, Andrew Narita, James E. Smith, John Pater, Alex William Hewitt, Jonathan B. Ruddle, , Jamie E. Craig

The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.

Ophthalmology · Jan 7, 2020Peer-reviewedGenetics

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