Publications

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Filters: Keyword is Exome and Author is Brunner, Han G  [Clear All Filters]
2013
de Ligt J, Boone PM, Pfundt R, Vissers LELM, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
2015
White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MCalijorne, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, van Silfhout ATVulto-, Steehouwer M, Muzny DM, V Sutton R, Gibbs RA, Lupski JR, Brunner HG, van Bon BWM, Carvalho CMB. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 ;96(4):612-22.
2016
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VVander, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Hoff JWVon den, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016 ;18(11):1158-1162.