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253 results

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IMPRESS: Improved methylation profiling using restriction enzymes and smMIP sequencing, combined with a new biomarker panel, creating a multi-cancer detection assay.
Vandenhoeck J, Neefs I, Vanpoucke T, Ibrahim J, Suls A, Peeters D, Schepers A, Hoischen A, Fransen E, Peeters M, Van Camp G, Op de Beeck K. Vandenhoeck J, et al. Among authors: hoischen a. Br J Cancer. 2024 Oct;131(7):1224-1236. doi: 10.1038/s41416-024-02809-1. Epub 2024 Aug 24. Br J Cancer. 2024. PMID: 39181941 Free PMC article.
A Case-Control Study Supports Genetic Contribution of the PON Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease.
Van Dijck E, Diels S, Fransen E, Cremers TC, Verrijken A, Dirinck E, Hoischen A, Vandeweyer G, Vanden Berghe W, Van Gaal L, Francque S, Van Hul W. Van Dijck E, et al. Among authors: hoischen a. Antioxidants (Basel). 2024 Aug 29;13(9):1051. doi: 10.3390/antiox13091051. Antioxidants (Basel). 2024. PMID: 39334710 Free PMC article.
TRGT-denovo: accurate detection of de novo tandem repeat mutations.
Mokveld T, Dolzhenko E, Dashnow H, Nicholas TJ, Sasani T, van der Sanden B, Jadhav B, Pedersen B, Kronenberg Z, Tucci A, Sharp AJ, Quinlan AR, Gilissen C, Hoischen A, Eberle MA. Mokveld T, et al. Among authors: hoischen a. bioRxiv [Preprint]. 2024 Jul 19:2024.07.16.600745. doi: 10.1101/2024.07.16.600745. bioRxiv. 2024. PMID: 39071386 Free PMC article. Preprint.
Myotilin gene duplication causing late-onset myotilinopathy.
Spinazzi M, Savarese M, Letournel F, Sagath L, Manero F, Guichet A, Hoischen A, Metay C, Gouju J, Udd B. Spinazzi M, et al. Among authors: hoischen a. Eur J Neurol. 2025 Jan;32(1):e70029. doi: 10.1111/ene.70029. Eur J Neurol. 2025. PMID: 39757377 Free PMC article.
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Schuy J, Sæther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, Hempel M, Hoischen A, Pettersson M, Carvalho CMB, Eisfeldt J, Lindstrand A. Schuy J, et al. Among authors: hoischen a. Genet Med Open. 2024 Jun 28;2:101863. doi: 10.1016/j.gimo.2024.101863. eCollection 2024. Genet Med Open. 2024. PMID: 39669604 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. Among authors: hoischen a. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE, Van der Made CI, Smeekens SP, Schuurs-Hoeijmakers JH, Astuti G, Diepstra H, Gilissen C, Hoenselaar E, Janssen A, van Roozendaal K, Engelen JS, Steyaert W, Weiss MM, Yntema HG, Mantere T, AlZahrani MS, van Aerde K, Derfalvi B, Faqeih EA, Henriet SSV, van Hoof E, Idressi E, Issekutz TB, Jongmans MCJ, Keski-Filppula R, Krapels I, Te Loo M, Mulders-Manders CM, Ten Oever J, Potjewijd J, Sarhan NT, Slot MC, Terhal PA, Thijs H, Vandersteen A, Vanhoutte EK, van de Veerdonk F, van Well G, Netea MG; all members of the Radboud University Medical Center multidisciplinary immune-disease board; Simons A, Hoischen A. Vorsteveld EE, et al. Among authors: hoischen a. Clin Immunol. 2024 Nov;268:110375. doi: 10.1016/j.clim.2024.110375. Epub 2024 Oct 5. Clin Immunol. 2024. PMID: 39369972 Free article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Multi-omic profiling of pathogen-stimulated primary immune cells.
Salz R, Vorsteveld EE, van der Made CI, Kersten S, Stemerdink M, Riepe TV, Hsieh TH, Mhlanga M, Netea MG, Volders PJ, Hoischen A, 't Hoen PAC. Salz R, et al. Among authors: hoischen a. iScience. 2024 Jul 6;27(8):110471. doi: 10.1016/j.isci.2024.110471. eCollection 2024 Aug 16. iScience. 2024. PMID: 39091463 Free PMC article.
253 results