Author
German Center for Neurodegenerative DiseasesORCID 0000-0002-7250-8597Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur
The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.
Cyril P. Pottier, Fahri Küçükali, Matt C. Baker…·Edward B. Lee
This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.
German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez…·Emanuele Raineri
The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.
André Altmann, David M. Cash, Martina Bocchetta…·Philip Van Damme
The paper investigates the relationship between gene expression and brain atrophy in genetic frontotemporal dementia, finding correlations between atrophy patterns and specific gene sets related to vascular, glial, and neuronal functions.