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Page 1
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Collin RW, et al. Among authors: venselaar h. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. Am J Hum Genet. 2008. PMID: 18179891 Free PMC article.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: venselaar h. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
A germ line mutation in cathepsin B points toward a role in asparaginase pharmacokinetics.
van der Meer LT, Waanders E, Levers M, Venselaar H, Roeleveld D, Boos J, Lanvers C, Brüggemann RJ, Kuiper RP, Hoogerbrugge PM, van Leeuwen FN, te Loo DM. van der Meer LT, et al. Among authors: venselaar h. Blood. 2014 Nov 6;124(19):3027-9. doi: 10.1182/blood-2014-06-582627. Blood. 2014. PMID: 25377564 Free article. No abstract available.
LRP5 variants may contribute to ADPKD.
Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP. Cnossen WR, et al. Among authors: venselaar h. Eur J Hum Genet. 2016 Feb;24(2):237-42. doi: 10.1038/ejhg.2015.86. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920554 Free PMC article.
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Meester JA, et al. Among authors: venselaar h. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20. Am J Hum Genet. 2015. PMID: 26299364 Free PMC article.
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences.
Waanders E, Scheijen B, Jongmans MC, Venselaar H, van Reijmersdal SV, van Dijk AH, Pastorczak A, Weren RD, van der Schoot CE, van de Vorst M, Sonneveld E, Hoogerbrugge N, van der Velden VH, Gruhn B, Hoogerbrugge PM, van Dongen JJ, Geurts van Kessel A, van Leeuwen FN, Kuiper RP. Waanders E, et al. Among authors: venselaar h. Leukemia. 2017 Apr;31(4):821-828. doi: 10.1038/leu.2016.277. Epub 2016 Oct 13. Leukemia. 2017. PMID: 27733777
127 results