Author

Dov Tiosano

Technion – Israel Institute of TechnologyORCID 0000-0002-9992-235XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Organism:Drosophila· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adi MoryiD· 1 shared Alina KurolapiD· 1 shared Amy Siemon· 1 shared André ReisiD· 1 shared Anlu CheniD· 1 shared Antje WieseneriD· 1 shared Antonio BerguaiD· 1 shared Ashita Dave‐Wala· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Adi MoryORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineScience AdvancesPeer-reviewedMay 12, 2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

30 citations

humanDrosophila

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