Author

Ava Oberlack

Institut für Humangenetik

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 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:imaging· 1

Frequent Co-Authors

Theresa BrunetiD· 2 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alessandro Mauro SpinelliiD· 1 shared Alexander HustinxiD· 1 shared Alexandra Sitzberger· 1 shared Alexej KnausiD· 1 shared Alice SaparoviD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Theresa BrunetORCID

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2 papers

Recent·Most cited

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

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine J. Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, , Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

medRxiv · Jun 6, 2023 · PreprintGenetic & Genomic Medicine