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Page 1
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP. Shenje LT, et al. Among authors: craig bd. Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416. Nat Commun. 2014. PMID: 24595103 Free PMC article.
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Scott AF, et al. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872
A strabismus susceptibility locus on chromosome 7p.
Parikh V, Shugart YY, Doheny KF, Zhang J, Li L, Williams J, Hayden D, Craig B, Capo H, Chamblee D, Chen C, Collins M, Dankner S, Fiergang D, Guyton D, Hunter D, Hutcheon M, Keys M, Morrison N, Munoz M, Parks M, Plotsky D, Protzko E, Repka MX, Sarubbi M, Schnall B, Siatkowski RM, Traboulsi E, Waeltermann J, Nathans J. Parikh V, et al. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12283-8. doi: 10.1073/pnas.2035118100. Epub 2003 Sep 30. Proc Natl Acad Sci U S A. 2003. PMID: 14519848 Free PMC article.