Author

Karin Writzl

Ljubljana University Medical CentreORCID 0000-0003-0388-5361Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Marcello ScalaiD· 2 shared Adam P GiessiD· 1 shared Afshan SiddiqiD· 1 shared Aleš MaveriD· 1 shared Alessio MasiiD· 1 shared Alexander SieghartiD· 1 shared Alexander StuckeyiD· 1 shared Alexandre ReymondiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Marcello ScalaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 14, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

1 citation

humanzebrafish

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 7, 2023

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini…·Ellen Thomas

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

45 citationstop 4%

humanDrosophila

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