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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. Dibbens LM, et al. Among authors: friend k. Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469813 Free PMC article.
Evidence of founder chromosomes in fragile X syndrome.
Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P, Tarleton J, Schwartz C, et al. Richards RI, et al. Among authors: friend k. Nat Genet. 1992 Jul;1(4):257-60. doi: 10.1038/ng0792-257. Nat Genet. 1992. PMID: 1302021
FRAXAC2 instability.
Richards RI, Holman K, Friend K, Staples A, Sutherland GR, Oudet C, Biancalana V, Mandel JL. Richards RI, et al. Among authors: friend k. Nat Genet. 1994 Jun;7(2):122; author reply 123. doi: 10.1038/ng0694-122a. Nat Genet. 1994. PMID: 7802803 No abstract available.
Dynamic mutation loci: allele distributions in different populations.
Richards RI, Crawford J, Narahara K, Mangelsdorf M, Friend K, Staples A, Denton M, Easteal S, Hori TA, Kondo I, Jenkins T, Goldman A, Panich V, Ferakova E, Sutherland GR. Richards RI, et al. Among authors: friend k. Ann Hum Genet. 1996 Sep;60(5):391-400. doi: 10.1111/j.1469-1809.1996.tb00437.x. Ann Hum Genet. 1996. PMID: 8912792
205 results