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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: hoenselaar e. Clin Immunol. 2024 Nov;268:110375. doi: 10.1016/j.clim.2024.110375. Epub 2024 Oct 5. Clin Immunol. 2024. PMID: 39369972 Free article.
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ. Kuiper RP, et al. Among authors: hoenselaar e. Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309036
Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer.
Venkatachalam R, Ligtenberg MJ, Hoogerbrugge N, Schackert HK, Görgens H, Hahn MM, Kamping EJ, Vreede L, Hoenselaar E, van der Looij E, Goossens M, Churchman M, Carvajal-Carmona L, Tomlinson IP, de Bruijn DR, Van Kessel AG, Kuiper RP. Venkatachalam R, et al. Among authors: hoenselaar e. Gastroenterology. 2010 Dec;139(6):2221-4. doi: 10.1053/j.gastro.2010.08.063. Epub 2010 Oct 29. Gastroenterology. 2010. PMID: 21036128 No abstract available.
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Ligtenberg MJ, et al. Among authors: hoenselaar e. Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21. Nat Genet. 2009. PMID: 19098912