Author

Hölger Thiele

University of CologneORCID 0000-0002-0169-998XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

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

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 4 Research Focus:differential expression· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:host-pathogen & immune response· 1 Assay:metabolomics· 1 Assay:scRNA-seq· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alina Braun· 1 shared Alonso Barrantes‐FreeriD· 1 shared Anna C. KolleriD· 1 shared Anna Sophie FröhlichiD· 1 shared Anukrati Nigam· 1 shared Bernhard SchermeriD· 1 shared Bodo Bernhard BeckiD· 1 shared Brian DeaniD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Alina Braun

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

PathologyNature CommunicationsPeer-reviewedJun 3, 2025

Deep lipidomic profiling reveals sex dimorphism of lipid metabolism in fibro-calcific aortic valve disease

Patricia Prabutzki, Michele Wölk, Julia Böttner…·Maria Fedorova

This study uses lipidomics to identify sex differences in lipid metabolism in fibro-calcific aortic valve disease.

14 citationstop 2%

humanmetabolomics

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintAug 9, 2022

Variant-risk-exon interplay impacts circadian rhythm and dopamine signaling pathway in severe psychiatric disorders

Karolina Worf, Natalie Matosin, Nathalie Gerstner…·Nikola S. Mueller

The paper examines how genetic variants affect gene expression in cortical neurons, identifying pathways linked to psychiatric disorders.

4 citations

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 11, 2021

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

Karl P. Schlingmann, François Jouret, Kuang Shen…·Jeroen H. F. de Baaij

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

NeuroscienceExperimental NeurologyPeer-reviewedMay 24, 2019

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

Peter Huppke, Eike Wegener, Jonathan Gilley…·Michael P. Coleman

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.

67 citationstop 3%

𝕏 PostBluesky