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Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC. Peyrard-Janvid M, et al. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360809 Free PMC article.
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC. Rorick NK, et al. Am J Med Genet A. 2011 Jun;155A(6):1314-21. doi: 10.1002/ajmg.a.33980. Epub 2011 May 13. Am J Med Genet A. 2011. PMID: 21574244 Free PMC article.
Family-based association study of DYX1C1 variants in autism.
Ylisaukko-Oja T, Peyrard-Janvid M, Lindgren CM, Rehnström K, Vanhala R, Peltonen L, Järvelä I, Kere J. Ylisaukko-Oja T, et al. Eur J Hum Genet. 2005 Jan;13(1):127-30. doi: 10.1038/sj.ejhg.5201272. Eur J Hum Genet. 2005. PMID: 15470369
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.
Anthoni H, Zucchelli M, Matsson H, Müller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Körne G, Kere J, Nöthen MM, Peyrard-Janvid M. Anthoni H, et al. Hum Mol Genet. 2007 Mar 15;16(6):667-77. doi: 10.1093/hmg/ddm009. Epub 2007 Feb 19. Hum Mol Genet. 2007. PMID: 17309879
37 results