Author

Ute Hehr

University of RegensburgORCID 0000-0002-7746-4474Unclaimed 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:genome assembly· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

André ReisiD· 1 shared Arif Bülent EkiciiD· 1 shared Bernt PoppiD· 1 shared Christian Thomas ThieliD· 1 shared Cornelia S. KrausiD· 1 shared Mandy Krumbiegel· 1 shared Moritz HebebrandiD· 1 shared Regina TrollmanniD· 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

GeneticsOrphanet Journal of Rare DiseasesPeer-reviewedFeb 11, 2019

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann…·Bernt Popp

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.

81 citationstop 3%

humanwhole-exome sequencing