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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: bahlo m. 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.
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.
Rubio JP, Bahlo M, Tubridy N, Stankovich J, Burfoot R, Butzkueven H, Chapman C, Johnson L, Marriott M, Mraz G, Tait B, Wilkinson C, Taylor B, Speed TP, Foote SJ, Kilpatrick TJ. Rubio JP, et al. Among authors: bahlo m. Hum Genet. 2004 May;114(6):573-80. doi: 10.1007/s00439-004-1095-9. Epub 2004 Mar 11. Hum Genet. 2004. PMID: 15014978
Identifying nineteenth century genealogical links from genotypes.
Stankovich J, Bahlo M, Rubio JP, Wilkinson CR, Thomson R, Banks A, Ring M, Foote SJ, Speed TP. Stankovich J, et al. Among authors: bahlo m. Hum Genet. 2005 Jul;117(2-3):188-99. doi: 10.1007/s00439-005-1279-y. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883841
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Berkovic SF, et al. Among authors: bahlo m. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308289 Free PMC article.
A new dominantly inherited pure cerebellar ataxia, SCA 30.
Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. Storey E, et al. Among authors: bahlo m. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):408-11. doi: 10.1136/jnnp.2008.159459. Epub 2008 Nov 7. J Neurol Neurosurg Psychiatry. 2009. PMID: 18996908
312 results