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APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: pastinen t. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
Verlaan DJ, Berlivet S, Hunninghake GM, Madore AM, Larivière M, Moussette S, Grundberg E, Kwan T, Ouimet M, Ge B, Hoberman R, Swiatek M, Dias J, Lam KC, Koka V, Harmsen E, Soto-Quiros M, Avila L, Celedón JC, Weiss ST, Dewar K, Sinnett D, Laprise C, Raby BA, Pastinen T, Naumova AK. Verlaan DJ, et al. Among authors: pastinen t. Am J Hum Genet. 2009 Sep;85(3):377-93. doi: 10.1016/j.ajhg.2009.08.007. Am J Hum Genet. 2009. PMID: 19732864 Free PMC article.
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis.
Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, Verlaan DJ, Le J, Koka V, Lam KC, Gagné V, Dias J, Hoberman R, Montpetit A, Joly MM, Harvey EJ, Sinnett D, Beaulieu P, Hamon R, Graziani A, Dewar K, Harmsen E, Majewski J, Göring HH, Naumova AK, Blanchette M, Gunderson KL, Pastinen T. Ge B, et al. Among authors: pastinen t. Nat Genet. 2009 Nov;41(11):1216-22. doi: 10.1038/ng.473. Epub 2009 Oct 18. Nat Genet. 2009. PMID: 19838192
Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.
Murphy A, Chu JH, Xu M, Carey VJ, Lazarus R, Liu A, Szefler SJ, Strunk R, Demuth K, Castro M, Hansel NN, Diette GB, Vonakis BM, Adkinson NF Jr, Klanderman BJ, Senter-Sylvia J, Ziniti J, Lange C, Pastinen T, Raby BA. Murphy A, et al. Among authors: pastinen t. Hum Mol Genet. 2010 Dec 1;19(23):4745-57. doi: 10.1093/hmg/ddq392. Epub 2010 Sep 10. Hum Mol Genet. 2010. PMID: 20833654 Free PMC article.
Fine mapping of the insulin-induced gene 2 identifies a variant associated with LDL cholesterol and total apolipoprotein B levels.
Do R, Bailey SD, Paré G, Montpetit A, Desbiens K, Hudson TJ, Yusuf S, Bouchard C, Gaudet D, Pérusse L, Anand S, Vohl MC, Pastinen T, Engert JC. Do R, et al. Among authors: pastinen t. Circ Cardiovasc Genet. 2010 Oct;3(5):454-61. doi: 10.1161/CIRCGENETICS.109.917039. Epub 2010 Sep 21. Circ Cardiovasc Genet. 2010. PMID: 20858904
228 results