Author

Deborah A. Sival

University Medical Center GroningenORCID 0000-0002-6232-2414Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adi MoryiD· 1 shared André ReisiD· 1 shared Anlu CheniD· 1 shared Antje WieseneriD· 1 shared Antonio BerguaiD· 1 shared Brett R. CopelandiD· 1 shared Christian Thomas ThieliD· 1 shared David A. BuchneriD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adi MoryORCID

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1 paper

Recent·Most cited

Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction

Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett R. Copeland, Joseph G. Gleeson, Patrick Rump, Hester van Meer, Deborah A. Sival, Volker Haucke, , David A. Buchner

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.

PLoS Genetics · Apr 29, 2019Peer-reviewedGenetics