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NAR Genomics and Bioinformatics|November 9, 2023
Evaluation of input data modality choices on functional gene embeddingsFelix Brechtmann, Thibault Bechtler, Shubhankar Londhe, et al.American Journal of Human Genetics|December 4, 2018
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing DataFelix Brechtmann, Christian Mertes, Agnė Matusevičiūtė, et al.Nature Genetics|September 25, 2024
Integration of variant annotations using deep set networks boosts rare variant association testingBrian Clarke, Eva Holtkamp, Hakime Öztürk, et al.Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.Nature Genetics|September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.Pageof 1