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Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B. Mrkonjic M, et al. Among authors: roslin nm. PLoS One. 2010 Oct 13;5(10):e13314. doi: 10.1371/journal.pone.0013314. PLoS One. 2010. PMID: 20967208 Free PMC article.
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Goobie S, et al. Among authors: roslin nm. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15. Am J Hum Genet. 2001. PMID: 11254457 Free PMC article.
Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population.
Engert JC, Lemire M, Faith J, Brisson D, Fujiwara TM, Roslin NM, Brewer CG, Montpetit A, Darmond-Zwaig C, Renaud Y, Doré C, Bailey SD, Verner A, Tremblay G, St-Pierre J, Bétard C, Platko J, Rioux JD, Morgan K, Hudson TJ, Gaudet D. Engert JC, et al. Among authors: roslin nm. Eur J Hum Genet. 2008 Jan;16(1):105-14. doi: 10.1038/sj.ejhg.5201920. Epub 2007 Sep 5. Eur J Hum Genet. 2008. PMID: 17805225
Reduced proportions of natural killer T cells are present in the relatives of lupus patients and are associated with autoimmunity.
Wither J, Cai YC, Lim S, McKenzie T, Roslin N, Claudio JO, Cooper GS, Hudson TJ, Paterson AD, Greenwood CM, Gladman D, Pope J, Pineau CA, Smith CD, Hanly JG, Peschken C, Boire G; CaNIOS Investigators; Fortin PR. Wither J, et al. Arthritis Res Ther. 2008;10(5):R108. doi: 10.1186/ar2505. Epub 2008 Sep 10. Arthritis Res Ther. 2008. PMID: 18783591 Free PMC article.
Data integration in genetics and genomics: methods and challenges.
Hamid JS, Hu P, Roslin NM, Ling V, Greenwood CM, Beyene J. Hamid JS, et al. Among authors: roslin nm. Hum Genomics Proteomics. 2009 Jan 12;2009:869093. doi: 10.4061/2009/869093. Hum Genomics Proteomics. 2009. PMID: 20948564 Free PMC article.
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium; Héon E. Vincent A, et al. Among authors: roslin nm. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. J Med Genet. 2014. PMID: 25293953
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