Author

Oliver Maier

Ostschweizer Kinderspital

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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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 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Julien GagneuriD· 2 shared Vicente A. YépeziD· 2 shared Alexandra Sitzberger· 1 shared Alice SaparoviD· 1 shared Amelie T. van der VeniD· 1 shared An‐Sofie SchoonjansiD· 1 shared Andrea Rueegger· 1 shared Ann‐Kathrin Jaroszynski· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Julien GagneurORCID

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2 papers

Recent·Most cited

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

Joohyun Park, Zakaria Eddafir, Josua Kegele, Davide Mei, Noor Smal, Christina Vossler-Wolf, Kornelia Ellwanger, Charissa Millevert, Merel Swinnen, Robert J. Lauerer, Heidi Loeffler, Thomas Ott, German M. Demidov, Michael Alber, Francesca Bisulli, , Holger Lerche

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

medRxiv · Oct 28, 2026 · PreprintGenetic & Genomic Medicine

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian R. Hölzlwimmer, Elisabetta Indelicato, Birgit E. Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brügger, Kevork Derderian, Felix Distelmaier, Philip Harrer, , Michael Zech

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

Annals of Neurology · Feb 2, 2026Peer-reviewedGenetic & Genomic Medicine