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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: smith kr. Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230722 Free PMC article.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Among authors: smith kr. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF. Smith KR, et al. Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608501 Free PMC article.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L. Guergueltcheva V, et al. Among authors: smith kr. Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901947 Free PMC article.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Smith KR, et al. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297359 Free PMC article.
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ. Wilson GR, et al. Among authors: smith kr. Eur J Hum Genet. 2014 Jun;22(6):741-7. doi: 10.1038/ejhg.2013.229. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105366 Free PMC article.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Lim SC, et al. Among authors: smith kr. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462369 Free PMC article.
860 results