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Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, Nillesen WN, Vissers LE, Kempers MJ, Vulto-van Silfhout AT, Iqbal Z, Orlando M, Maccione A, Lassi G, Farisello P, Contestabile A, Tinarelli F, Nieus T, Raimondi A, Greco B, Cantatore D, Gasparini L, Berdondini L, Bifone A, Gozzi A, Wells S, Nolan PM. Tucci V, et al. Among authors: buenavista mt. J Clin Invest. 2014 Apr;124(4):1468-82. doi: 10.1172/JCI70372. Epub 2014 Mar 10. J Clin Invest. 2014. PMID: 24614104 Free PMC article.
Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination.
Grimes DT, Keynton JL, Buenavista MT, Jin X, Patel SH, Kyosuke S, Vibert J, Williams DJ, Hamada H, Hussain R, Nauli SM, Norris DP. Grimes DT, et al. Among authors: buenavista mt. PLoS Genet. 2016 Jun 6;12(6):e1006070. doi: 10.1371/journal.pgen.1006070. eCollection 2016 Jun. PLoS Genet. 2016. PMID: 27272319 Free PMC article.
The ModFOLD4 server for the quality assessment of 3D protein models.
McGuffin LJ, Buenavista MT, Roche DB. McGuffin LJ, et al. Among authors: buenavista mt. Nucleic Acids Res. 2013 Jul;41(Web Server issue):W368-72. doi: 10.1093/nar/gkt294. Epub 2013 Apr 25. Nucleic Acids Res. 2013. PMID: 23620298 Free PMC article.