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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: pieterse m. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink K, Huibers MMH, Hollink IHIM, van der Veken LT, Ernst RF, Simons A, Zonneveld-Huijssoon E, van der Hout AH, Abbott KM, Hoischen A, Pieterse M, Kuijpers TW, van Montfrans JM, van Gijn ME. Elsink K, et al. Among authors: pieterse m. Eur J Hum Genet. 2021 Jan;29(1):20-28. doi: 10.1038/s41431-020-0702-0. Epub 2020 Jul 30. Eur J Hum Genet. 2021. PMID: 32733070 Free PMC article.
The neo-open reading frame peptides that comprise the tumor framome are a rich source of neoantigens for cancer immunotherapy.
Martin MV, Aguilar-Rosas S, Franke K, Pieterse M, van Langelaar J, Schreurs RR, Bijlsma MF, Besselink MG, Koster J, Timens W, Khasraw M, Ashley DM, Keir ST, Ottensmeier CH, King EV, Verheij J, Waasdorp C, Valk PJM, Engels SA, Oostenbach E, van Dinter JT, Hofman DA, Mok JY, van Esch WJE, Wilmink H, Monkhorst K, Verheul HMW, Poel D, Hiltermann TJN, van Kempen LC, Groen HJ, Aerts JGJV, van Heesch S, Lowenberg B, Plasterk R, Kloosterman WP. Martin MV, et al. Among authors: pieterse m. Cancer Immunol Res. 2024 Apr 4. doi: 10.1158/2326-6066.CIR-23-0158. Online ahead of print. Cancer Immunol Res. 2024. PMID: 38573707
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.
Andersson-Assarsson JC, van Deuren RC, Kristensson FM, Steehouwer M, Sjöholm K, Svensson PA, Pieterse M, Gilissen C, Taube M, Jacobson P, Perkins R, Brunner HG, Netea MG, Peltonen M, Carlsson B, Hoischen A, Carlsson LMS. Andersson-Assarsson JC, et al. Among authors: pieterse m. EBioMedicine. 2023 Jun;92:104621. doi: 10.1016/j.ebiom.2023.104621. Epub 2023 May 18. EBioMedicine. 2023. PMID: 37209535 Free PMC article.
136 results