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Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Khleifat AA, Mordes DA, Ghosh S, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2020 Feb;23(2):295. doi: 10.1038/s41593-019-0570-5. PubMed PMID: 31857710.
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Amezcua L, McCauley JL. Race and ethnicity on MS presentation and disease course. Mult Scler. 2020 Jan 22;:1352458519887328. doi: 10.1177/1352458519887328. [Epub ahead of print] PubMed PMID: 31965878; NIHMSID:NIHMS1541270.
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McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG, Hooper SR, Shashi V. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Clin Genet. 2019 Dec;96(6):521-531. doi: 10.1111/cge.13635. Epub 2019 Oct 8. PubMed PMID: 31448412; PubMed Central PMCID: PMC6983919.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2019 Dec;22(12):1966-1974. doi: 10.1038/s41593-019-0530-0. Epub 2019 Nov 25. PubMed PMID: 31768050; PubMed Central PMCID: PMC6919277.
Beecham AH, McCauley JL. Fine-Mapping Array Design for Multi-Ethnic Studies of Multiple Sclerosis. Genes (Basel). 2019 Nov 7;10(11). doi: 10.3390/genes10110903. PubMed PMID: 31703377; PubMed Central PMCID: PMC6895860.
Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J, Moore SA, Hamid R. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clin Imaging. 2019 Nov - Dec;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. Epub 2019 Jun 21. PubMed PMID: 31299614; PubMed Central PMCID: PMC6893088.
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. Science. 2019 Sep 27;365(6460). doi: 10.1126/science.aav7188. PubMed PMID: 31604244; NIHMSID:NIHMS1580882.
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Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E. The "All of Us" Research Program. N Engl J Med. 2019 Aug 15;381(7):668-676. doi: 10.1056/NEJMsr1809937. PubMed PMID: 31412182.
Beecham AH, Amezcua L, Chinea A, Manrique CP, Rubi C, Isobe N, Lund BT, Santaniello A, Beecham GW, Burchard EG, Comabella M, Patsopoulos N, Fitzgerald K, Calabresi PA, De Jager P, Conti DV, Delgado SR, Oksenberg JR, McCauley JL. The genetic diversity of multiple sclerosis risk among Hispanic and African American populations living in the United States. Mult Scler. 2019 Aug 1;:1352458519863764. doi: 10.1177/1352458519863764. [Epub ahead of print] PubMed PMID: 31368393; PubMed Central PMCID: PMC6994382.
Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5. PubMed PMID: 31264822; PubMed Central PMCID: PMC6688907.
Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis. Nat Commun. 2019 Jul 1;10(1):2956. doi: 10.1038/s41467-019-10951-1. PubMed PMID: 31263110; PubMed Central PMCID: PMC6602957.
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A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis. Nat Commun. 2019 May 20;10(1):2236. doi: 10.1038/s41467-019-09773-y. PubMed PMID: 31110181; PubMed Central PMCID: PMC6527683.
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Rajabli F, Feliciano BE, Celis K, Hamilton-Nelson KL, Whitehead PL, Adams LD, Bussies PL, Manrique CP, Rodriguez A, Rodriguez V, Starks T, Byfield GE, Sierra Lopez CB, McCauley JL, Acosta H, Chinea A, Kunkle BW, Reitz C, Farrer LA, Schellenberg GD, Vardarajan BN, Vance JM, Cuccaro ML, Martin ER, Haines JL, Byrd GS, Beecham GW, Pericak-Vance MA. Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations. PLoS Genet. 2018 Dec;14(12):e1007791. doi: 10.1371/journal.pgen.1007791. eCollection 2018 Dec. PubMed PMID: 30517106; PubMed Central PMCID: PMC6281216.
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Amezcua L, Beecham AH, Delgado SR, Chinea A, Burnett M, Manrique CP, Gomez R, Comabella M, Montalban X, Ortega M, Tornes L, Lund BT, Islam T, Conti D, Oksenberg JR, McCauley JL. Native ancestry is associated with optic neuritis and age of onset in hispanics with multiple sclerosis. Ann Clin Transl Neurol. 2018 Nov;5(11):1362-1371. doi: 10.1002/acn3.646. eCollection 2018 Nov. PubMed PMID: 30480030; PubMed Central PMCID: PMC6243381.
Damas OM, Estes D, Avalos D, Quintero MA, Morillo D, Caraballo F, Lopez J, Deshpande AR, Kerman D, McCauley JL, Palacio A, Abreu MT, Schwartz SJ. Hispanics Coming to the US Adopt US Cultural Behaviors and Eat Less Healthy: Implications for Development of Inflammatory Bowel Disease. Dig Dis Sci. 2018 Nov;63(11):3058-3066. doi: 10.1007/s10620-018-5185-2. Epub 2018 Jul 7. PubMed PMID: 29982988; PubMed Central PMCID: PMC6182439.
Pottier C, Rampersaud E, Baker M, Wu G, Wuu J, McCauley JL, Zuchner S, Schule R, Bermudez C, Hussain S, Cooley A, Wallace M, Zhang J, Taylor JP, Benatar M, Rademakers R. Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):469-471. doi: 10.1080/21678421.2018.1452947. Epub 2018 Mar 20. PubMed PMID: 29558868; PubMed Central PMCID: PMC6116528.
Chen CJ, Ding D, Buell TJ, Testai FD, Koch S, Woo D, Worrall BB. Restarting antiplatelet therapy after spontaneous intracerebral hemorrhage: Functional outcomes. Neurology. 2018 Jul 3;91(1):e26-e36. doi: 10.1212/WNL.0000000000005742. Epub 2018 May 30. PubMed PMID: 29848784; PubMed Central PMCID: PMC6091879.
Crawford DC, Bailey JNC, Miskimen K, Miron P, McCauley JL, Sedor JR, ƠToole JF, Bush WS. Somatic T-cell Receptor Diversity in a Chronic Kidney Disease PatientPopulation Linked to Electronic Health Records. AMIA Jt Summits Transl Sci Proc. 2018;2017:63-71. eCollection 2018. PubMed PMID: 29888042; PubMed Central PMCID: PMC5961818.
Amezcua L, Oksenberg JR, McCauley JL. MS in self-identified Hispanic/Latino individuals living in the US. Mult Scler J Exp Transl Clin. 2017 Jul-Sep;3(3):2055217317725103. doi: 10.1177/2055217317725103. eCollection 2017 Jul-Sep. Review. PubMed PMID: 28979795; PubMed Central PMCID: PMC5617095.
Fazia T, Pastorino R, Foco L, Han L, Abney M, Beecham A, Hadjixenofontos A, Guo H, Gentilini D, Papachristou C, Bitti PP, Ticca A, Berzuini C, McCauley JL, Bernardinelli L. Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci. Mult Scler. 2017 Sep 1;:1352458517732841. doi: 10.1177/1352458517732841. [Epub ahead of print] PubMed PMID: 28933650.
Damas OM, Avalos DJ, Palacio AM, Gomez L, Quintero MA, Deshpande AR, Sussman DA, McCauley JL, Lopez J, Schwartz SJ, Abreu MT. Inflammatory bowel disease is presenting sooner after immigration in more recent US immigrants from Cuba. Aliment Pharmacol Ther. 2017 Aug;46(3):303-309. doi: 10.1111/apt.14145. Epub 2017 May 19. PubMed PMID: 28524546; PubMed Central PMCID: PMC6001638.
Chen CJ, Brown WM, Moomaw CJ, Langefeld CD, Osborne J, Worrall BB, Woo D, Koch S. Alcohol use and risk of intracerebral hemorrhage. Neurology. 2017 May 23;88(21):2043-2051. doi: 10.1212/WNL.0000000000003952. Epub 2017 Apr 26. PubMed PMID: 28446657; PubMed Central PMCID: PMC5440244.
Damas OM, Gomez L, Quintero MA, Rampersaud E, Slifer S, Beecham GW, Kerman DH, Deshpande AR, Sussman DA, Abreu MT, McCauley JL. Genetic Characterization and Influence on Inflammatory Bowel Disease Expression in a Diverse Hispanic South Florida Cohort. Clin Transl Gastroenterol. 2017 Apr 13;8(4):e87. doi: 10.1038/ctg.2017.13. PubMed PMID: 28406493; PubMed Central PMCID: PMC5415895.
Fewings N, Gatt PN, McKay FC, Parnell GP, Schibeci SD, Edwards J, Basuki MA, Goldinger A, Fabis-Pedrini MJ, Kermode AG, Manrique CP, McCauley JL, Nickles D, Baranzini SE, Burke T, Vucic S, Stewart GJ, Booth DR. Data characterizing the ZMIZ1 molecular phenotype of multiple sclerosis. Data Brief. 2017 Apr;11:364-370. doi: 10.1016/j.dib.2017.02.040. eCollection 2017 Apr. PubMed PMID: 28275670; PubMed Central PMCID: PMC5329066.
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Singh SK, Lupo PJ, Scheurer ME, Saxena A, Kennedy AE, Ibrahimou B, Barbieri MA, Mills KI, McCauley JL, Okcu MF, Dorak MT. A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants. Medicine (Baltimore). 2016 Nov;95(46):e5300. doi: 10.1097/MD.0000000000005300. PubMed PMID: 27861356; PubMed Central PMCID: PMC5120913.
NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk. Neuron. 2016 Oct 19;92(2):333-335. doi: 10.1016/j.neuron.2016.09.052. PubMed PMID: 27764667; PubMed Central PMCID: PMC5641967.
Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF. Gastroenterology. 2016 Oct;151(4):710-723.e2. doi: 10.1053/j.gastro.2016.06.045. Epub 2016 Jul 1. PubMed PMID: 27377463; PubMed Central PMCID: PMC5037012.
Pandit L, Ban M, Beecham AH, McCauley JL, Sawcer S, D'Cunha A, Malli C, Malik O. European multiple sclerosis risk variants in the south Asian population. Mult Scler. 2016 Oct;22(12):1536-1540. doi: 10.1177/1352458515624270. Epub 2016 Jan 11. PubMed PMID: 26754803.
Koch S, Elkind MS, Testai FD, Brown WM, Martini S, Sheth KN, Chong JY, Osborne J, Moomaw CJ, Langefeld CD, Sacco RL, Woo D. Racial-ethnic disparities in acute blood pressure after intracerebral hemorrhage. Neurology. 2016 Aug 23;87(8):786-91. doi: 10.1212/WNL.0000000000002962. Epub 2016 Jul 13. PubMed PMID: 27412141; PubMed Central PMCID: PMC4999322.
Berera S, Koru-Sengul T, Miao F, Carrasquillo O, Nadji M, Zhang Y, Hosein PJ, McCauley JL, Abreu MT, Sussman DA. Colorectal Tumors From Different Racial and Ethnic Minorities Have Similar Rates of Mismatch Repair Deficiency. Clin Gastroenterol Hepatol. 2016 Aug;14(8):1163-71. doi: 10.1016/j.cgh.2016.03.037. Epub 2016 Apr 1. PubMed PMID: 27046481.
Keshavan A, Paul F, Beyer MK, Zhu AH, Papinutto N, Shinohara RT, Stern W, Amann M, Bakshi R, Bischof A, Carriero A, Comabella M, Crane JC, D'Alfonso S, Demaerel P, Dubois B, Filippi M, Fleischer V, Fontaine B, Gaetano L, Goris A, Graetz C, Gröger A, Groppa S, Hafler DA, Harbo HF, Hemmer B, Jordan K, Kappos L, Kirkish G, Llufriu S, Magon S, Martinelli-Boneschi F, McCauley JL, Montalban X, Mühlau M, Pelletier D, Pattany PM, Pericak-Vance M, Cournu-Rebeix I, Rocca MA, Rovira A, Schlaeger R, Saiz A, Sprenger T, Stecco A, Uitdehaag BMJ, Villoslada P, Wattjes MP, Weiner H, Wuerfel J, Zimmer C, Zipp F, Hauser SL, Oksenberg JR, Henry RG. Power estimation for non-standardized multisite studies. Neuroimage. 2016 Jul 1;134:281-294. doi: 10.1016/j.neuroimage.2016.03.051. Epub 2016 Apr 1. PubMed PMID: 27039700; PubMed Central PMCID: PMC5656257.
Hussman JP, Beecham AH, Schmidt M, Martin ER, McCauley JL, Vance JM, Haines JL, Pericak-Vance MA. GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis. Genes Immun. 2016 Jul;17(5):305-12. doi: 10.1038/gene.2016.23. Epub 2016 Jun 9. PubMed PMID: 27278126; PubMed Central PMCID: PMC4956564.
Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Clin Genet. 2016 Mar;89(3):359-66. doi: 10.1111/cge.12608. Epub 2015 Jun 4. PubMed PMID: 25959749; PubMed Central PMCID: PMC4760689.
Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK, Ban M, Shah TS, Patsopoulos NA, Alfredsson L, Anderson CA, Attfield KE, Baranzini SE, Barrett J, Binder TMC, Booth D, Buck D, Celius EG, Cotsapas C, D'Alfonso S, Dendrou CA, Donnelly P, Dubois B, Fontaine B, Fugger L, Goris A, Gourraud PA, Graetz C, Hemmer B, Hillert J, Kockum I, Leslie S, Lill CM, Martinelli-Boneschi F, Oksenberg JR, Olsson T, Oturai A, Saarela J, Søndergaard HB, Spurkland A, Taylor B, Winkelmann J, Zipp F, Haines JL, Pericak-Vance MA, Spencer CCA, Stewart G, Hafler DA, Ivinson AJ, Harbo HF, Hauser SL, De Jager PL, Compston A, McCauley JL, Sawcer S, McVean G. Class II HLA interactions modulate genetic risk for multiple sclerosis. Nat Genet. 2015 Oct;47(10):1107-1113. doi: 10.1038/ng.3395. Epub 2015 Sep 7. PubMed PMID: 26343388; PubMed Central PMCID: PMC4874245.
Hadjixenofontos A, Gourraud PA, Bakthavachalam V, Foco L, Ticca A, Bitti P, Pastorino R, Bernardinelli L, McCauley JL. Enrichment for Northern European-derived multiple sclerosis risk alleles in Sardinia. Mult Scler. 2015 Oct;21(11):1396-403. doi: 10.1177/1352458515581872. Epub 2015 Apr 28. PubMed PMID: 25921054.
Hadjixenofontos A, Beecham AH, Manrique CP, Pericak-Vance MA, Tornes L, Ortega M, Rammohan KW, McCauley JL, Delgado SR. Clinical Expression of Multiple Sclerosis in Hispanic Whites of Primarily Caribbean Ancestry. Neuroepidemiology. 2015;44(4):262-8. doi: 10.1159/000431375. Epub 2015 Jul 11. PubMed PMID: 26184860.
Isobe N, Madireddy L, Khankhanian P, Matsushita T, Caillier SJ, Moré JM, Gourraud PA, McCauley JL, Beecham AH, Piccio L, Herbert J, Khan O, Cohen J, Stone L, Santaniello A, Cree BA, Onengut-Gumuscu S, Rich SS, Hauser SL, Sawcer S, Oksenberg JR. An ImmunoChip study of multiple sclerosis risk in African Americans. Brain. 2015 Jun;138(Pt 6):1518-30. doi: 10.1093/brain/awv078. Epub 2015 Mar 28. PubMed PMID: 25818868; PubMed Central PMCID: PMC4553906.
Andreassen OA, Harbo HF, Wang Y, Thompson WK, Schork AJ, Mattingsdal M, Zuber V, Bettella F, Ripke S, Kelsoe JR, Kendler KS, O'Donovan MC, Sklar P, McEvoy LK, Desikan RS, Lie BA, Djurovic S, Dale AM. Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci. Mol Psychiatry. 2015 Feb;20(2):207-14. doi: 10.1038/mp.2013.195. Epub 2014 Jan 28. PubMed PMID: 24468824; PubMed Central PMCID: PMC4356743.
Abreu MT, Peek RM Jr. Gastrointestinal malignancy and the microbiome. Gastroenterology. 2014 May;146(6):1534-1546.e3. doi: 10.1053/j.gastro.2014.01.001. Epub 2014 Jan 7. Review. PubMed PMID: 24406471; PubMed Central PMCID: PMC3995897.
Sundqvist E, Buck D, Warnke C, Albrecht E, Gieger C, Khademi M, Lima Bomfim I, Fogdell-Hahn A, Link J, Alfredsson L, Søndergaard HB, Hillert J, Oturai AB, Hemmer B, Kockum I, Olsson T. JC polyomavirus infection is strongly controlled by human leucocyte antigen class II variants. PLoS Pathog. 2014 Apr;10(4):e1004084. doi: 10.1371/journal.ppat.1004084. eCollection 2014 Apr. PubMed PMID: 24763718; PubMed Central PMCID: PMC3999271.
Woo D, Falcone GJ, Devan WJ, Brown WM, Biffi A, Howard TD, Anderson CD, Brouwers HB, Valant V, Battey TW, Radmanesh F, Raffeld MR, Baedorf-Kassis S, Deka R, Woo JG, Martin LJ, Haverbusch M, Moomaw CJ, Sun G, Broderick JP, Flaherty ML, Martini SR, Kleindorfer DO, Kissela B, Comeau ME, Jagiella JM, Schmidt H, Freudenberger P, Pichler A, Enzinger C, Hansen BM, Norrving B, Jimenez-Conde J, Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano C, Roquer J, Kraft P, Ayres AM, Schwab K, McCauley JL, Pera J, Urbanik A, Rost NS, Goldstein JN, Viswanathan A, Stögerer EM, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Montaner J, Fernandez-Cadenas I, Delgado P, Malik R, Dichgans M, Greenberg SM, Rothwell PM, Lindgren A, Slowik A, Schmidt R, Langefeld CD, Rosand J. Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. Am J Hum Genet. 2014 Apr 3;94(4):511-21. doi: 10.1016/j.ajhg.2014.02.012. Epub 2014 Mar 20. PubMed PMID: 24656865; PubMed Central PMCID: PMC3980413.
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