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Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response.
van de Wal MAE, Doornbos C, Bibbe JM, Homberg JR, van Karnebeek C, Huynen MA, Keijer J, van Schothorst EM, 't Hoen PAC, Janssen MCH, Adjobo-Hermans MJW, Wieckowski MR, Koopman WJH. van de Wal MAE, et al. Among authors: doornbos c. Biochim Biophys Acta Proteins Proteom. 2025 Jan 1;1873(1):141055. doi: 10.1016/j.bbapap.2024.141055. Epub 2024 Oct 11. Biochim Biophys Acta Proteins Proteom. 2025. PMID: 39395749 Free article.
Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT.
Bayjanov JR, Doornbos C, Ozisik O, Shin W, Queralt-Rosinach N, Wijnbergen D, Saulnier-Blache JS, Schanstra JP, Buffin-Meyer B, Klein J, Fernández JM, Kaliyaperumal R, Baudot A, 't Hoen PAC, Ehrhart F. Bayjanov JR, et al. Among authors: doornbos c. Sci Rep. 2024 Sep 5;14(1):20731. doi: 10.1038/s41598-024-71721-8. Sci Rep. 2024. PMID: 39237660 Free PMC article.
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B; Solve-RD DITF-EPICARE; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RITA; Solve-RD DITF-RND; Solve-RD consortium; T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J, Graessner H. Yépez VA, et al. Among authors: doornbos c. Nat Genet. 2025 Sep 9. doi: 10.1038/s41588-025-02290-3. Online ahead of print. Nat Genet. 2025. PMID: 40926087 Review.
FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.
Liao X, Ederveen THA, Niehues A, de Visser C, Huang J, Badmus F, Doornbos C, Orlova Y, Kulkarni P, van der Velde KJ, Swertz MA, Brandt M, van Gool AJ, 't Hoen PAC. Liao X, et al. Among authors: doornbos c. J Biomed Semantics. 2024 Dec 28;15(1):20. doi: 10.1186/s13326-024-00321-2. J Biomed Semantics. 2024. PMID: 39732721 Free PMC article.
A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome.
Aslanyan MG, Doornbos C, Diwan GD, Anvarian Z, Beyer T, Junger K, van Beersum SEC, Russell RB, Ueffing M, Ludwig A, Boldt K, Pedersen LB, Roepman R. Aslanyan MG, et al. Among authors: doornbos c. Front Cell Dev Biol. 2023 Jan 26;11:1113656. doi: 10.3389/fcell.2023.1113656. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36776558 Free PMC article.
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A, Bukowska-Olech E, Latos-Bieleńska A, Grenda R, Bongers EMHF, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM. Walczak-Sztulpa J, et al. Among authors: doornbos c. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.