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Page 1
Recurrent CLTC::SYK fusions and CSF1R mutations in juvenile xanthogranuloma of soft tissue.
Kemps PG, Baelde HJ, Vorderman RHP, Stelloo E, Swennenhuis JF, Szuhai K, Lamers MH, Kenkhuis B, Al-Hussaini M, Briaire-de Bruijn IH, Lam SW, Bovée JVMG, Cleven AHG, Verdijk RM, van Noesel CJM, van Dijk MR, Scheijde-Vermeulen MA, Bruggink AH, van Laar JAM, de Vries ACH, Tissing WJE, van den Bos C, von Deimling A, van Wezel T, van Halteren AGS, Hogendoorn PCW. Kemps PG, et al. Among authors: vorderman rhp. Blood. 2024 Dec 5;144(23):2439-2455. doi: 10.1182/blood.2024025127. Blood. 2024. PMID: 39316650
Recurrent ETV3::NCOA2 fusions and MAPK pathway mutations in indeterminate dendritic cell histiocytosis.
Kemps PG, Woei-A-Jin FJSH, Quint KD, van den Bos C, Naeije L, van Laar JAM, Vanden Bempt I, Koudijs MJ, Vorderman RHP, Stelloo E, Swennenhuis JF, Bruggink AH, Hebeda KM, Scheijde-Vermeulen MA, Diercks GFH, Verdijk RM, Jansen PM, Hauben E, Tousseyn T, Cleven AHG, van Wezel T, van Halteren AGS, Hogendoorn PCW. Kemps PG, et al. Among authors: vorderman rhp. Blood Adv. 2025 Feb 11;9(3):439-444. doi: 10.1182/bloodadvances.2024013696. Blood Adv. 2025. PMID: 39361730 Free PMC article. No abstract available.
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.
Helderman NC, Yang T, Palles C, Terlouw D, Mei H, Vorderman RHP, Cats D, Díaz-Gay M, Jongmans MCJ, Ramdien A, van de Beek I, Eleveld TF, Green A, Hes FJ, van den Heuvel-Eibrink MM, Van Der Kelen A, Kliesch S, Kuiper RP, Lakeman IMM, Lashley LEELO, Looijenga LHJ, Oud MS, Steingröver J, Tenenbaum-Rakover Y, Tops CM, Tüttelmann F, de Voer RM, Westra D, Wyrwoll MJ, Golubicki M, Antelo M, Bonjoch L, Terradas M, Valle L, Alexandrov LB, Morreau H, van Wezel T, Castellví-Bel S, Goldberg Y, Nielsen M. Helderman NC, et al. Among authors: vorderman rhp. HGG Adv. 2025 Oct 9;6(4):100480. doi: 10.1016/j.xhgg.2025.100480. Epub 2025 Jul 18. HGG Adv. 2025. PMID: 40684266 Free PMC article.
Angiopoietin-like 4 governs diurnal lipoprotein lipase activity in brown adipose tissue.
van Eenige R, In Het Panhuis W, Schönke M, Jouffe C, Devilee TH, Siebeler R, Streefland TCM, Sips HCM, Pronk ACM, Vorderman RHP, Mei H, van Klinken JB, van Weeghel M, Uhlenhaut NH, Kersten S, Rensen PCN, Kooijman S. van Eenige R, et al. Among authors: vorderman rhp. Mol Metab. 2022 Jun;60:101497. doi: 10.1016/j.molmet.2022.101497. Epub 2022 Apr 10. Mol Metab. 2022. PMID: 35413480 Free PMC article.
Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data.
Tafazoli A, van der Lee M, Swen JJ, Zeller A, Wawrusiewicz-Kurylonek N, Mei H, Vorderman RHP, Konopko K, Zankiewicz A, Miltyk W. Tafazoli A, et al. Among authors: vorderman rhp. Pharmacogenomics J. 2022 Dec;22(5-6):276-283. doi: 10.1038/s41397-022-00286-4. Epub 2022 Aug 13. Pharmacogenomics J. 2022. PMID: 35963939 Free PMC article.
Retrospective Validation of a Metagenomic Sequencing Protocol for Combined Detection of RNA and DNA Viruses Using Respiratory Samples from Pediatric Patients.
van Boheemen S, van Rijn AL, Pappas N, Carbo EC, Vorderman RHP, Sidorov I, van T Hof PJ, Mei H, Claas ECJ, Kroes ACM, de Vries JJC. van Boheemen S, et al. Among authors: vorderman rhp. J Mol Diagn. 2020 Feb;22(2):196-207. doi: 10.1016/j.jmoldx.2019.10.007. Epub 2019 Dec 16. J Mol Diagn. 2020. PMID: 31837435 Free PMC article.