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419 results

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Page 1
Evolvability of yeast protein-protein interaction interfaces.
Talavera D, Williams SG, Norris MG, Robertson DL, Lovell SC. Talavera D, et al. Among authors: williams sg. J Mol Biol. 2012 Jun 22;419(5):387-96. doi: 10.1016/j.jmb.2012.03.021. Epub 2012 Apr 1. J Mol Biol. 2012. PMID: 22472422
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J. Böhm J, et al. Among authors: williams sg. Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28058752
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. Wieczorek D, et al. Among authors: williams sg. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434003 Free PMC article.
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Among authors: williams sg. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.
Yang C, Xu Y, Yu M, Lee D, Alharti S, Hellen N, Ahmad Shaik N, Banaganapalli B, Sheikh Ali Mohamoud H, Elango R, Przyborski S, Tenin G, Williams S, O'Sullivan J, Al-Radi OO, Atta J, Harding SE, Keavney B, Lako M, Armstrong L. Yang C, et al. Hum Mol Genet. 2017 Aug 15;26(16):3031-3045. doi: 10.1093/hmg/ddx140. Hum Mol Genet. 2017. PMID: 28521042 Free PMC article.
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG. Smith MJ, et al. Among authors: williams sg. Neurology. 2015 Jan 13;84(2):141-7. doi: 10.1212/WNL.0000000000001129. Epub 2014 Dec 5. Neurology. 2015. PMID: 25480913 Free PMC article.
419 results