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.


Karol Estrada, Christopher W. Whelan, et al., A whole-genome sequence study idnetifies genetic risk factors for neuromyelitis optica. Nature Communications 9. 2018 May 16. Article Number 1929 (2018)


Lim CK, Bilgin A et al., Kynurenine pathway metabolomics predicts and provides mechanistic insight into multiple sclerosis progression. Sci Rep. 2017 Feb 3. 7:41473


An H, Lim C et al., Serum Leukocyte Immunoglobulin-Like Receptor A3 (LILRA3) Is Increased in Patients with Multiple Sclerosis and Is a Strong Independent Indicator of Disease Severity; 6.7kbp LILRA3 Gene Deletion Is Not Associated with Diseases Susceptibility. PLoS One. 2016 Feb 12. 11(2):e0149200.

Lovelace MD, Varney B et al., Current Evidence for a Role of the Kynurenine Pathway of Tryptophan Metabolism in Multiple Sclerosis. Front Immunol. 2016 Aug 4. 7:246.


Claire Simon K, Schmidt H et al., Epstein-Barr virus candidate genes and multiple sclerosis. Mult Scler Relat Disord. 2015 Jan. 4(1):60-4.

Spurlock CF 3rd, Tossberg JT et al., Defective structural RNA processing in relapsing-remitting multiple sclerosis. Genome Biol. 2015 Mar 25. 16:58.

Simon KC, Schmidt H et al., Risk factors for multiple sclerosis, neuromyelitis optica and transverse myelitis. Mult Scler. 2015 May. 21(6):703-9.


Zhang F, Tossberg JT et al., Expression of IL-33 and its epigenetic regulation in Multiple Sclerosis. Ann Clin Transl Neurol. 2014 May 1. 1(5):307-318.

Meyers L, Groover CJ et al., A role for Apolipoprotein A-I in the pathogenesis of multiple sclerosis. J Neuroimmunol. 2014 Dec 15. 277(1-2):176-85.


Li CF, Zhou RW et al., Hypomorphic MGAT5 polymorphisms promote multiple sclerosis cooperatively with MGAT1 and interleukin-2 and 7 receptor variants. J Neuroimmunol. 2013 Mar 15. 256(1-2):71-6

Raveendra BL, Wu H et al., Discovery of peptoid ligands for anti-aquaporin 4 antibodies. Chem Biol. 2013 Mar 21. 20(3):351-9.

Tossberg JT, Crooke PS et al., Using biomarkers to predict progression from clinically isolated syndrome to multiple sclerosis. J Clin Bioinforma. 2013 Oct 3. 3(1):18.


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.

Kumagai C, Kalman B et al., Increased promoter methylation of the immune regulatory gene SHP-1 in leukocytes of multiple sclerosis subjects. J Neuroimmunol. 2012 May 15. 246(1-2):51-7.

Grigorian A, Mkhikian H et al., Pathogenesis of multiple sclerosis via environmental and genetic dysregulation of N-glycosylation. Semin Immunopathol. 2012 May. 34(3):415-24.

Rossi A, Ratelade J et al., Neuromyelitis optica IgG does not alter aquaporin-4 water permeability, plasma membrane M1/M23 isoform content, or supramolecular assembly. Glia. 2012 Dec. 60(12):2027-39.

Wang L, Liu R et al., A hypermorphic SP1-binding CD24 variant associates with risk and progression of multiple sclerosisAm J Transl Res. 2012. 4(3):347-56.


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.

Brettschneider J, Jaskowski TD, et al., Serum anti-GAGA4 IgM antibodies differentiate relapsing remitting and secondary progressive multiple sclerosis from primary progressive multiple sclerosis and other neurological diseases. J Neuroimmunol 2009 Dec 10. 217(1-2):95-101.


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.