Author

Karen M. Lower

Flinders UniversityORCID 0000-0003-2196-5234Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 G. Willoughby· 1 shared John Pater· 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

GeneticsEuropean Journal of Human GeneticsPeer-reviewedMar 8, 2017

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

Owen M. Siggs, Shari Javadiyan, Shiwani Sharma…·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.

21 citations

humanwhole-exome sequencing

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