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Prevalent polymorphism in thyroid hormone-activating enzyme leaves a genetic fingerprint that underlies associated clinical syndromes.
McAninch EA, Jo S, Preite NZ, Farkas E, Mohácsik P, Fekete C, Egri P, Gereben B, Li Y, Deng Y, Patti ME, Zevenbergen C, Peeters RP, Mash DC, Bianco AC. McAninch EA, et al. Among authors: mash dc. J Clin Endocrinol Metab. 2015 Mar;100(3):920-33. doi: 10.1210/jc.2014-4092. Epub 2015 Jan 8. J Clin Endocrinol Metab. 2015. PMID: 25569702 Free PMC article.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, … See abstract for full author list ➔ Sims R, et al. Among authors: mash dc. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
Clinical heterogeneity of the LRRK2 G2019S mutation.
Papapetropoulos S, Singer C, Ross OA, Toft M, Johnson JL, Farrer MJ, Mash DC. Papapetropoulos S, et al. Among authors: mash dc. Arch Neurol. 2006 Sep;63(9):1242-6. doi: 10.1001/archneur.63.9.1242. Arch Neurol. 2006. PMID: 16966501
Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.
Ghani M, Reitz C, Cheng R, Vardarajan BN, Jun G, Sato C, Naj A, Rajbhandary R, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith PA, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Lee JH, Schellenberg GD, St George-Hyslop P, Mayeux R, Rogaeva E; Alzheimer’s Disease Genetics Consortium. Ghani M, et al. JAMA Neurol. 2015 Nov;72(11):1313-23. doi: 10.1001/jamaneurol.2015.1700. JAMA Neurol. 2015. PMID: 26366463 Free PMC article.
Somatic mtDNA mutation spectra in the aging human putamen.
Williams SL, Mash DC, Züchner S, Moraes CT. Williams SL, et al. Among authors: mash dc. PLoS Genet. 2013;9(12):e1003990. doi: 10.1371/journal.pgen.1003990. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339796 Free PMC article.
299 results