Scientific Publications

Scientific Publications

Several peer-reviewed publications have resulted from research that has been made possible by the biospecimens available through the ACP Repository. If you are a researcher who has used samples from the Repository and you do not see your published work below, please contact Hollie Schmidt at 781-487-0099 or to have it added to the list.  


Tossberg JT, Crooke P S, Henderson M A et al., Gene-expression signatures: biomarkers toward diagnosing multiple sclerosis. Genes and Immunity. 2012 Feb. 13:146-154. 


Matiello M, Schaefer-Klein JL, Hebrink DD et al., Genetic analysis of aquaporin-4 in neuromyelitis optica. Neurology. 2011 Sept 20. 77(12):1149-55.

Sawcer S, Hellenthal G, Pirinen M et al., Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 10. 476:214–219.

Mkhikian H, Grigorian A, Li CF. Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis. Nature Communications. 2011 May 31.

Stuve O, Wang J, Chan A et al., No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis. Arch Neurol. 2011 Feb. 68(2):264-5.


Matiello M, Schaefer-Klein J, Brum DG et al., HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica. Mult Scler. 2010 Aug. 16(8):981-4.

Esposito F, Patsopoulos NA, Cepok S et al., IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun. 2010 Jul. 11(5):397-405.

Zuvich RL, McCauley JL, Oksenberg JR et al., Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility. Hum Genet. 2010 Mar. 127(5):525-35.


McCauley JL, Zuvich RL, Beecham AL et al., Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci. Hum Mol Genet. 2010 Mar 1. 19(5):953-62.

De Jager PL, Jia X, Wang J et al., Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet. 2009 Jul. 41(7):776-82.


Vyshkina T, Sylvester A, Sadiq S et al., Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus. Clin Immunol. 2008 Oct. 129(1):31-5.

Vyshkina T, Sylvester A, Sadiq S et al., CCL genes in multiple sclerosis and systemic lupus erythematosus. J Neuroimmunol. 2008 Aug 30. 200(1-2):145-52.