Author

Anna K. Kähler

Karolinska InstitutetORCID 0000-0003-4047-4588Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Patrick F. SullivaniD· 2 shared Aarno V. PalotieiD· 1 shared Aditi Trehan· 1 shared Alexander A. LobodaiD· 1 shared Alexander GuðjónssoniD· 1 shared Amanda Beccard· 1 shared André GoedegebureiD· 1 shared Andrea GannaiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Patrick F. SullivanORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 28, 2025

Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus

Nick M. A. Schubert, Shuyang Yao, Maryam Kazemi Naeini…·Frances M. K. Williams

The paper integrates GWAS meta-analysis with human brain cell mapping to identify genetic loci and cell types involved in tinnitus, implicating the amygdala and midbrain.

2 citations

humanGWAS summary statistics

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NeuroscienceNature CommunicationsPeer-reviewedJun 27, 2022

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Ralda Nehme, Olli P. H. Pietiläinen, Mykyta Artomov…·Kevin C. Eggan

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

58 citationstop 2%

humanbulk RNA-seq

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GeneticsMolecular PsychiatryPeer-reviewedDec 7, 2018

Common Variant Associations with Fragile X Syndrome

James J. Crowley, Jin Szatkiewicz, Anna K. Kähler…·Patrick F. Sullivan

This study identifies genome-wide significant associations near FMR1 with Fragile X Syndrome in males, highlighting the complexity of monogenetic disorders.

10 citations

humanwhole-genome sequencing

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