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Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobri?i? V, Carracedo A, Petrovi? I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovi? M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovi? I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kosti? VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR (2013). Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nature Genetics. 45(9): 1077-82.

Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M; Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH Jr, Devlin B, Morrow EM (2013). Intellectual Disability is associated with increased runs of homozygosity in simplex autism. American Journal of Human Genetics. 93(1): 103-9.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F (2013). Mutations in GDP-mannose pyrophosphorylase B can cause gongeintal and limb-girdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. American Journal of Human Genetics. 93(1): 29-41.

Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind DH, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH Jr, Kim SJ (2013). Adjusting head circumference for covariates in autism: Clinical correlates of a highly heritable continuous trait. Biological Psychiatry. 74(8): 576-84.

Perry DC, Lehmann M, Yokoyama JS, Karydas A, Lee JY, Coppola G, Grinberg LT, Geschwind DH, Seeley WW, Miller BL, Rosen H, Rabinovici G (2013). Progranulin mutations as risk factors for Alzheimer Disease. Archives of Neurology. 70(6): 774-8.

Miller JA, Woltjer RL, Goodenbour JM, Horvath S & Gechwind DH (2013). Genes and pathways underlying regional and cell type changes in Alzheimer’s disease. Genome Medicine. 5(5): 48.

Juknat A, Pietr M, Kozela E, Rimmerman N, Levy R, Gao FY, Coppola G, Geschwind DH, Vogel Z (2013). Microarray and pathway analysis reveal distinct mechanisms underlying cannabinoid-mediated modulation of LPS-induced activation of BV-2 microglial cells. PLoS ONE. 8(4): e61462.

Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, 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 P, 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, Schellenberg GD, Mayeux R; Alzheimer Disease Genetics Consortium (2013). Variants in the ATP-binding cassette transporter (ABCA7), apolipoportein E e4, and the risk of late-onset Alzheimer disease in African Americans. JAMA. 309(14): 1483-92.

Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Moriaha T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, Na DL, Seo SW, Mook-Jung I; Alzheimer Disease Genetics Consortium, St George-Hyslop P, Mayeux R, Haines JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K, Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA, Kuwano R (2013). SORL1 is genetically associated with late-onset Alzheimer’s disease in Japanese, Koreans, and Caucasians. PLoS One. 8(4): e58618.