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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.
D'haene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, Field M, Jones K, Lorenz B, Menten B, Buysse K, Pattyn F, Friedli M, Ucla C, Rossier C, Wyss C, Speleman F, De Paepe A, Dekker J, Antonarakis SE, De Baere E. D'haene B, et al. PLoS Genet. 2009 Jun;5(6):e1000522. doi: 10.1371/journal.pgen.1000522. Epub 2009 Jun 19. PLoS Genet. 2009. PMID: 19543368 Free PMC article.
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E. D'haene B, et al. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309. Invest Ophthalmol Vis Sci. 2011. PMID: 20881294
Identification of copy number variants associated with BPES-like phenotypes.
Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA. Gijsbers AC, et al. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25. Hum Genet. 2008. PMID: 18953567
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
D'haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns JP, Keymolen K, Debals E, de Klein A, de Jong EM, Segers K, De Paepe A, Mortier G, Vandesompele J, De Baere E. D'haene B, et al. J Clin Endocrinol Metab. 2010 Jun;95(6):3010-8. doi: 10.1210/jc.2009-2218. Epub 2010 Apr 7. J Clin Endocrinol Metab. 2010. PMID: 20375215
Structural and numerical changes of chromosome X in patients with esophageal atresia.
Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Brosens E, et al. Among authors: d haene b. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398799 Free PMC article.
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