Author

Janine Diehl‐Schmid

Inn-Salzach-KlinikumORCID 0000-0002-7745-1382Unclaimed 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· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:mouse· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Carlos CruchagaiD· 2 shared Edward D. HueyiD· 2 shared Ekaterina A. RogaevaiD· 2 shared Ethan G. Geier· 2 shared Ging‐Yuek Robin HsiungiD· 2 shared Glenda Margaret HallidayiD· 2 shared Jennifer S. YokoyamaiD· 2 shared John B. KwokiD· 2 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carlos CruchagaORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

Cyril P. Pottier, Fahri Küçükali, Matt C. Baker, Anthony J. Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina T. Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa Erin Murray, Júlia Faura, Stephen J. Haggarty, Jeroen van Rooij, , Edward B. Lee

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

Nature Communications · Apr 25, 2025Peer-reviewedGenetic & Genomic Medicine

Loss of TREM2 reduces hyperactivation of progranulin deficient microglia but not lysosomal pathology

Anika Reifschneider, Sophie Robinson, Bettina van Lengerich, Johannes S. Gnörich, Todd Logan, Steffanie Heindl, Miriam Annika Vogt, Endy Weidinger, Lina Riedl, Karin Wind-Mark, Artem Zatcepin, Sophie Haberl, Brigitte Nuscher, Gernot Kleinberger, Julien Klimmt, , Christian Haass

This study shows that TREM2 deficiency reduces microglial hyperactivation in GRN-deficient models but does not rescue lysosomal dysfunction or neurodegeneration biomarkers.

bioRxiv · Jul 8, 2021 · PreprintNeuroscience

CXCR4 involvement in neurodegenerative diseases

Luke W. Bonham, Celeste M M. Karch, Chun Chieh Fan, Chin Hong Tan, Ethan G. Geier, Yunpeng Wang, Natalie Wen, Iris Broce, Yi Li, Matthew J. Barkovich, Raffaele Ferrari, John Hardy, Parastoo Momeni, Günter U. Höglinger, Ulrich Müller, , Murray Grossman

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

Translational Psychiatry · Apr 11, 2018Peer-reviewedGenetics