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Page 1
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.
Verhoog LC, van den Ouweland AM, Berns E, van Veghel-Plandsoen MM, van Staveren IL, Wagner A, Bartels CC, Tilanus-Linthorst MM, Devilee P, Seynaeve C, Halley DJ, Niermeijer MF, Klijn JG, Meijers-Heijboer H. Verhoog LC, et al. Among authors: van veghel plandsoen mm. Eur J Cancer. 2001 Nov;37(16):2082-90. doi: 10.1016/s0959-8049(01)00244-1. Eur J Cancer. 2001. PMID: 11597388
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.
Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR; CHEK2-Breast Cancer Consortium. Meijers-Heijboer H, et al. Nat Genet. 2002 May;31(1):55-9. doi: 10.1038/ng879. Epub 2002 Apr 22. Nat Genet. 2002. PMID: 11967536
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.
van den Ouweland AM, Dinjens WN, Dorssers LC, van Veghel-Plandsoen MM, Brüggenwirth HT, Withagen-Hermans CJ, Collée JM, Joosse SA, Terlouw-Kromosoeto JN, Nederlof PM. van den Ouweland AM, et al. Among authors: van veghel plandsoen mm. Genet Test Mol Biomarkers. 2009 Jun;13(3):399-406. doi: 10.1089/gtmb.2008.0155. Genet Test Mol Biomarkers. 2009. PMID: 19405878
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Nellist M, Brouwer RW, Kockx CE, van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MM, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJ, van den Ouweland A, Halley D, de Klein A, van IJcken WF. Nellist M, et al. BMC Med Genet. 2015 Feb 25;16:10. doi: 10.1186/s12881-015-0155-4. BMC Med Genet. 2015. PMID: 25927202 Free PMC article.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: van veghel plandsoen mm. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ. Douben HCW, et al. Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8. Hum Mutat. 2022. PMID: 36251260 Free PMC article.
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