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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
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG. Smith MJ, et al. Among authors: williams sg. J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17. J Clin Oncol. 2014. PMID: 25403219
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.
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.
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
Urquhart JE, Williams SG, Bhaskar SS, Bowers N, Clayton-Smith J, Newman WG. Urquhart JE, et al. Among authors: williams sg. J Hum Genet. 2015 Dec;60(12):781-5. doi: 10.1038/jhg.2015.111. Epub 2015 Sep 17. J Hum Genet. 2015. PMID: 26377242
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G. Ratbi I, et al. Among authors: williams sg. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387595 Free PMC article.
420 results