Christian Mertes
Garching Bei Munchen, BY, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 22 publications
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Journal: Nature genetics
Published: January 06, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.
Journal: Annals of neurology
Published: September 24, 2025
PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder.
Journal: Bioinformatics (Oxford, England)
Published: February 03, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Journal: Brain : a journal of neurology
Published: October 04, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.
Journal: F1000Research
Published: August 27, 2024
Splicing control by PHF5A is crucial for melanoma cell survival.
Journal: Cell proliferation
Published: March 08, 2024
Evaluation of input data modality choices on functional gene embeddings.
Journal: NAR genomics and bioinformatics
Published: May 16, 2023
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index.
Journal: American journal of human genetics
Published: May 10, 2023
Improved detection of aberrant splicing using the Intron Jaccard Index.
Journal: medRxiv : the preprint server for health sciences
Published: April 17, 2023
Author Correction: Detection of aberrant splicing events in RNA-seq data using FRASER.
Journal: Nature communications
Published: June 17, 2022
Last Updated: 09/26/2026