Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Dive into the research topics where Julien Gagneur is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Correction to: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease (Nature Genetics, (2025), 57, 10, (2361-2370), 10.1038/s41588-025-02290-3)
Solve-RD DITF-EPICARE, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RITA, Solve-RD DITF-RND & Solve-RD consortium, Jan 2026, In: Nature Genetics. 58, 1, p. 231 1 p.Research output: Contribution to journal › Comment/debate
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Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Saparov, A., Dzinovic, I., Brunet, T., Yépez, V. A., Hölzlwimmer, F., Indelicato, E., Assmann, B., Badmann, S., Ballhausen, D., Berweck, S., Brechtmann, F., Brugger, M., Derderian, K., Distelmaier, F., Harrer, P., Harvanova, D., Havrankova, P., Jaroszynski, A. K., Kolnikova, M. & Kopajtich, R. & 23 others, , 2026, (Accepted/In press) In: Annals of Neurology.Research output: Contribution to journal › Article › peer-review
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MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Morsy, H., Kim, H., Jang, G., Zaki, M. S., Severino, M., Abdelrazek, I. M., Hussien, H., Self, E., Albaradie, R. S., Bakur, K., Firoozfar, Z., Efthymiou, S., Noureldeen, M. M., Nabil, A., Alvi, J. R., Molavi, F., Alavi, S., Alibakhshi, R., Topcu, V. & Mancilar, H. & 22 others, , 5 Feb 2026, In: American Journal of Human Genetics. 113, 2, p. 380-391 12 p.Research output: Contribution to journal › Article › peer-review
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Modanovo: A Unified Model for Post-translational Modification-Aware De Novo Sequencing Using Experimental Spectra From In Vivo and Synthetic Peptides
Klaproth-Andrade, D., Bruns, Y., Gabriel, W., Nix, C., Bergant, V., Pichlmair, A., Wilhelm, M. & Gagneur, J., Feb 2026, In: Molecular and Cellular Proteomics. 25, 2, p. 1-18 18 p., 101501.Research output: Contribution to journal › Article › peer-review
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Aberrant gene expression prediction across human tissues
Hölzlwimmer, F. R., Lindner, J., Tsitsiridis, G., Wagner, N., Casale, F. P., Yépez, V. A. & Gagneur, J., Dec 2025, In: Nature Communications. 16, 1, 3061.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations