Author

Adi Mory

Rambam Health Care CampusORCID 0000-0003-0487-9633Unclaimed 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

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 Deborah A. SivaliD· 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

André ReisORCID

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1 paper

Recent·Most cited

GeneticsPLoS GeneticsPeer-reviewedApr 29, 2019

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

Dov Tiosano, Hagit N. Baris, Anlu Chen…·David A. Buchner

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

67 citationstop 3%

humanstatistical model

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