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Journal Article

C. Cruchaga, Karch, C. M., Jin, S. Chih, Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., Jeng, A. T., Cooper, B., Skorupa, T., Carrell, D., Levitch, D., Hsu, S., Choi, J., Ryten, M., Sassi, C., Brás, J., Gibbs, R. J., Hernandez, D. G., Lupton, M. K., Powell, J., Forabosco, P., Ridge, P. G., Corcoran, C. D., Tschanz, J. A. T., Norton, M. C., Munger, R. G., Schmutz, C., Leary, M., F Demirci, Y., Bamne, M. N., Wang, X., Lopez, O. L., Ganguli, M., Medway, C., Turton, J., Lord, J., Braae, A., Barber, I., Brown, K., Pastor, P., Lorenzo-Betancor, O., Brkanac, Z., Scott, E., Topol, E., Morgan, K., Rogaeva, E., Singleton, A., Hardy, J., M Kamboh, I., St George-Hyslop, P., Cairns, N., Morris, J. C., Kauwe, J. S. K., and Goate, A. M., “Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.”, Nature, vol. 505, no. 7484, pp. 550-554, 2014.

Y. Deming, Filipello, F., Cignarella, F., Cantoni, C., Hsu, S., Mikesell, R., Li, Z., Del-Aguila, J. L., Dube, U., Farias, F. Geraldo, Bradley, J., Budde, J., Ibañez, L., Fernández, M. Victoria, Blennow, K., Zetterberg, H., Heslegrave, A., Johansson, P. M., Svensson, J., Nellgård, B., Lleó, A., Alcolea, D., Clarimón, J., Rami, L., Molinuevo, J. Luis, Suárez-Calvet, M., Morenas-Rodríguez, E., Kleinberger, G., Ewers, M., Harari, O., Haass, C., Brett, T. J., Benitez, B. A., Karch, C. M., Piccio, L., and Cruchaga, C., “The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.”, Sci Transl Med, vol. 11, no. 505, 2019.

S. Da Mesquita, Papadopoulos, Z., Dykstra, T., Brase, L., Farias, F. Geraldo, Wall, M., Jiang, H., Kodira, C. Dilip, de Lima, K. Alves, Herz, J., Louveau, A., Goldman, D. H., Salvador, A. Francesca, Onengut-Gumuscu, S., Farber, E., Dabhi, N., Kennedy, T., Milam, M. Grace, Baker, W., Smirnov, I., Rich, S. S., Benitez, B. A., Karch, C. M., Perrin, R. J., Farlow, M., Chhatwal, J. P., Holtzman, D. M., Cruchaga, C., Harari, O., and Kipnis, J., “Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy.”, Nature, vol. 593, no. 7858, pp. 255-260, 2021.

I. Broce, Karch, C. M., Wen, N., Fan, C. C., Wang, Y., Tan, C. Hong, Kouri, N., Ross, O. A., Höglinger, G. U., Müller, U., Hardy, J., Momeni, P., Hess, C. P., Dillon, W. P., Miller, Z. A., Bonham, L. W., Rabinovici, G. D., Rosen, H. J., Schellenberg, G. D., Franke, A., Karlsen, T. H., Veldink, J. H., Ferrari, R., Yokoyama, J. S., Miller, B. L., Andreassen, O. A., Dale, A. M., Desikan, R. S., and Sugrue, L. P., “Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.”, PLoS Med, vol. 15, no. 1, p. e1002487, 2018.

C. Cruchaga, Kauwe, J. S. K., Harari, O., Jin, S. Chih, Cai, Y., Karch, C. M., Benitez, B. A., Jeng, A. T., Skorupa, T., Carrell, D., Bertelsen, S., Bailey, M., McKean, D., Shulman, J. M., De Jager, P. L., Chibnik, L., Bennett, D. A., Arnold, S. E., Harold, D., Sims, R., Gerrish, A., Williams, J., Van Deerlin, V. M., Lee, V. M. - Y., Shaw, L. M., Trojanowski, J. Q., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Peskind, E. R., Galasko, D., Fagan, A. M., Holtzman, D. M., Morris, J. C., and Goate, A. M., “GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.”, Neuron, vol. 78, no. 2, pp. 256-68, 2013.

J. S. K. Kauwe, Bailey, M. H., Ridge, P. G., Perry, R., Wadsworth, M. E., Hoyt, K. L., Staley, L. A., Karch, C. M., Harari, O., Cruchaga, C., Ainscough, B. J., Bales, K., Pickering, E. H., Bertelsen, S., Fagan, A. M., Holtzman, D. M., Morris, J. C., and Goate, A. M., “Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.”, PLoS Genet, vol. 10, no. 10, p. e1004758, 2014.

Z. Li, Del-Aguila, J. L., Dube, U., Budde, J., Martinez, R., Black, K., Xiao, Q., Cairns, N. J., Dougherty, J. D., Lee, J. - M., Morris, J. C., Bateman, R. J., Karch, C. M., Cruchaga, C., and Harari, O., “Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.”, Genome Med, vol. 10, no. 1, p. 43, 2018.

R. S. Desikan, Fan, C. Chieh, Wang, Y., Schork, A. J., Cabral, H. J., L Cupples, A., Thompson, W. K., Besser, L., Kukull, W. A., Holland, D., Chen, C. - H., Brewer, J. B., Karow, D. S., Kauppi, K., Witoelar, A., Karch, C. M., Bonham, L. W., Yokoyama, J. S., Rosen, H. J., Miller, B. L., Dillon, W. P., Wilson, D. M., Hess, C. P., Pericak-Vance, M., Haines, J. L., Farrer, L. A., Mayeux, R., Hardy, J., Goate, A. M., Hyman, B. T., Schellenberg, G. D., McEvoy, L. K., Andreassen, O. A., and Dale, A. M., “Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.”, PLoS Med, vol. 14, no. 3, p. e1002258, 2017.

C. M. Karch, Ezerskiy, L. A., Bertelsen, S., and Goate, A. M., “Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.”, PLoS One, vol. 11, no. 2, p. e0148717, 2016.

C. M. Karch, Cruchaga, C., and Goate, A. M., “Alzheimer's disease genetics: from the bench to the clinic.”, Neuron, vol. 83, no. 1, pp. 11-26, 2014.