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Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Weterman MA, et al. Among authors: thomasse ye. Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293. Brain. 2013. PMID: 23365102
Severe Pediatric COVID-19 and Multisystem Inflammatory Syndrome in Children From Wild-type to Population Immunity: A Prospective Multicenter Cohort Study With Real-time Reporting.
Tulling AJ, Lugthart G, Mooij MG, Brackel CLH, Terheggen-Lagro SWJ, Oostenbrink R, Buysse CMP, Hashimoto S, Armbrust W, Bannier MAGE, Bekhof J, van Gameren-Oosterom HB, Hendriks H, van Houten MA, van der Linden JW, Lebon A, van Onzenoort-Bokken L, Tramper-Stranders GA, van Veen M, von Asmuth EGJ, Buddingh EP; COPP-study group. Tulling AJ, et al. Pediatr Infect Dis J. 2023 Dec 1;42(12):1077-1085. doi: 10.1097/INF.0000000000004098. Epub 2023 Oct 12. Pediatr Infect Dis J. 2023. PMID: 37823702 Free PMC article.
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM. Verheij JB, et al. Among authors: thomasse ye. Eur J Med Genet. 2009 Sep-Oct;52(5):353-7. doi: 10.1016/j.ejmg.2009.05.006. Epub 2009 May 21. Eur J Med Genet. 2009. PMID: 19464398