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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Clayton-Smith J, et al. Among authors: thomas t. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008. Am J Hum Genet. 2011. PMID: 22077973 Free PMC article.
Germ line chimeras from female ES cells.
Voss AK, Thomas T, Gruss P. Voss AK, et al. Among authors: thomas t. Exp Cell Res. 1997 Jan 10;230(1):45-9. doi: 10.1006/excr.1996.3418. Exp Cell Res. 1997. PMID: 9013705
Efficiency assessment of the gene trap approach.
Voss AK, Thomas T, Gruss P. Voss AK, et al. Among authors: thomas t. Dev Dyn. 1998 Jun;212(2):171-80. doi: 10.1002/(SICI)1097-0177(199806)212:2<171::AID-AJA3>3.0.CO;2-E. Dev Dyn. 1998. PMID: 9626493 Free article.
Identification of novel genes by gene trap mutagenesis.
Voss AK, Thomas T. Voss AK, et al. Among authors: thomas t. Methods Mol Biol. 2001;175:377-96. doi: 10.1385/1-59259-235-X:377. Methods Mol Biol. 2001. PMID: 11462848 Review. No abstract available.
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: thomas t, thomas p. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
3,901 results