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Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Ge X, et al. Among authors: hendriks y. NPJ Genom Med. 2016;1:16036-. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 5. NPJ Genom Med. 2016. PMID: 28868155 Free PMC article.
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW. Almomani R, et al. Among authors: hendriks ym. Am J Med Genet A. 2013 May;161A(5):973-6. doi: 10.1002/ajmg.a.35808. Epub 2013 Mar 13. Am J Med Genet A. 2013. PMID: 23494849
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS. Mercimek-Mahmutoglu S, et al. Among authors: hendriks y. Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6. Hum Mutat. 2014. PMID: 24415674
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.
Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R. Wagner A, et al. Among authors: hendriks y. J Med Genet. 2001 May;38(5):318-22. doi: 10.1136/jmg.38.5.318. J Med Genet. 2001. PMID: 11333868 Free PMC article.
43 results