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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Rock MJ, et al. Among authors: cohn dh. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29. Nat Genet. 2008. PMID: 18587396 Free PMC article.
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Merrill AE, et al. Among authors: cohn za, cohn dh. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015. Am J Hum Genet. 2009. PMID: 19361615 Free PMC article.
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Smits P, et al. Among authors: cohn dh. N Engl J Med. 2010 Jan 21;362(3):206-16. doi: 10.1056/NEJMoa0900158. N Engl J Med. 2010. PMID: 20089971 Free PMC article.
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Lee H, et al. Among authors: cohn dh. Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464252 Free PMC article.
166 results