Author

Fanny Kortüm

University Medical Center Hamburg-Eppendorf

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Assay:proteomics· 1

Frequent Co-Authors

Agnieszka CharzewskaiD· 1 shared Alexej KnausiD· 1 shared Allan BayatiD· 1 shared Andrew A. HardiganiD· 1 shared Anju Shukla· 1 shared Ashwin Dalal· 1 shared Ayman W. El-Hattab· 1 shared Benjamin Cogné· 1 shared

Activity by Year

2016-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Agnieszka CharzewskaORCID

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2 papers

Recent·Most cited

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung‐Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian M. Korff, Rikke Steensbjerre Møller, Allan Bayat, , Peter Michael Krawitz

The paper evaluates clinical features, flow cytometry, and facial image analysis to classify GPIBDs and identify gene-specific patterns, finding that facial recognition software is most effective for gene prediction.

Genome Medicine · Jan 5, 2018Peer-reviewedGenetics

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

Frederike Leonie Harms, Katta Mohan Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, , Kerstin Kutsche

The paper identifies EBF3 mutations in individuals with intellectual disability, ataxia, and facial dysmorphism, showing they impair transcriptional regulation and neuronal development.

bioRxiv · Aug 3, 2016 · PreprintGenetics