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Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Among authors: lepage p. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.
Mapping common regulatory variants to human haplotypes.
Pastinen T, Ge B, Gurd S, Gaudin T, Dore C, Lemire M, Lepage P, Harmsen E, Hudson TJ. Pastinen T, et al. Among authors: lepage p. Hum Mol Genet. 2005 Dec 15;14(24):3963-71. doi: 10.1093/hmg/ddi420. Epub 2005 Nov 21. Hum Mol Genet. 2005. PMID: 16301213
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: lepage p. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595
Mutations in Fanconi anemia genes and the risk of esophageal cancer.
Akbari MR, Malekzadeh R, Lepage P, Roquis D, Sadjadi AR, Aghcheli K, Yazdanbod A, Shakeri R, Bashiri J, Sotoudeh M, Pourshams A, Ghadirian P, Narod SA. Akbari MR, et al. Among authors: lepage p. Hum Genet. 2011 May;129(5):573-82. doi: 10.1007/s00439-011-0951-7. Epub 2011 Jan 30. Hum Genet. 2011. PMID: 21279724 Free article.
A survey of genetic and epigenetic variation affecting human gene expression.
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brändström H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ. Pastinen T, et al. Among authors: lepage p. Physiol Genomics. 2004 Jan 15;16(2):184-93. doi: 10.1152/physiolgenomics.00163.2003. Physiol Genomics. 2004. PMID: 14583597
Survey of allelic expression using EST mining.
Ge B, Gurd S, Gaudin T, Dore C, Lepage P, Harmsen E, Hudson TJ, Pastinen T. Ge B, et al. Among authors: lepage p. Genome Res. 2005 Nov;15(11):1584-91. doi: 10.1101/gr.4023805. Genome Res. 2005. PMID: 16251468 Free PMC article.
374 results