Humans
M. Thambisetty, An, Y., and Tanaka, T.,
“Alzheimer's disease risk genes and the age-at-onset phenotype.”,
Neurobiol Aging, vol. 34, no. 11, pp. 2696.e1-5, 2013.
S. Swaminathan, Huentelman, M. J., Corneveaux, J. J., Myers, A. J., Faber, K. M., Foroud, T., Mayeux, R., Shen, L., Kim, S., Turk, M., Hardy, J., Reiman, E. M., and Saykin, A. J.,
“Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.”,
PLoS One, vol. 7, no. 12, p. e50640, 2012.
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.
P. Ryvkin, Leung, Y. Yee, Silverman, I. M., Childress, M., Valladares, O., Dragomir, I., Gregory, B. D., and San Wang, L. -,
“HAMR: high-throughput annotation of modified ribonucleotides.”,
RNA, vol. 19, no. 12, pp. 1684-92, 2013.
Y. Deming, Li, Z., Kapoor, M., Harari, O., Del-Aguila, J. L., Black, K., Carrell, D., Cai, Y., Fernández, M. Victoria, Budde, J., Ma, S., Saef, B., Howells, B., Huang, K. - L., Bertelsen, S., Fagan, A. M., Holtzman, D. M., Morris, J. C., Kim, S., Saykin, A. J., De Jager, P. L., Albert, M., Moghekar, A., O'Brien, R., Riemenschneider, M., Petersen, R. C., Blennow, K., Zetterberg, H., Minthon, L., Van Deerlin, V. M., Lee, V. Man- Yee, Shaw, L. M., Trojanowski, J. Q., Schellenberg, G., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Peskind, E. R., Li, G., Di Narzo, A. F., Kauwe, J. S. K., Goate, A. M., and Cruchaga, C.,
“Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.”,
Acta Neuropathol, vol. 133, no. 5, pp. 839-856, 2017.
J. J. Corneveaux, Myers, A. J., Allen, A. N., Pruzin, J. J., Ramirez, M., Engel, A., Nalls, M. A., Chen, K., Lee, W., Chewning, K., Villa, S. E., Meechoovet, H. B., Gerber, J. D., Frost, D., Benson, H. L., O'Reilly, S., Chibnik, L. B., Shulman, J. M., Singleton, A. B., Craig, D. W., Van Keuren-Jensen, K. R., Dunckley, T., Bennett, D. A., De Jager, P. L., Heward, C., Hardy, J., Reiman, E. M., and Huentelman, M. J.,
“Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.”,
Hum Mol Genet, vol. 19, no. 16, pp. 3295-301, 2010.
F. Zou, Chai, H. Seng, Younkin, C. S., Allen, M., Crook, J., V Pankratz, S., Carrasquillo, M. M., Rowley, C. N., Nair, A. A., Middha, S., Maharjan, S., Nguyen, T., Ma, L., Malphrus, K. G., Palusak, R., Lincoln, S., Bisceglio, G., Georgescu, C., Kouri, N., Kolbert, C. P., Jen, J., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Petersen, R. C., Graff-Radford, N. R., Dickson, D. W., Younkin, S. G., and Ertekin-Taner, N.,
“Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.”,
PLoS Genet, vol. 8, no. 6, p. e1002707, 2012.
K. - L. Huang, Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. Chih, Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., Chouraki, V., Grenier-Boley, B., Bellenguez, C., Deming, Y., McKenzie, A., Raj, T., Renton, A. E., Budde, J., Smith, A., Fitzpatrick, A., Bis, J. C., DeStefano, A., Adams, H. H. H., M Ikram, A., van der Lee, S., Del-Aguila, J. L., Fernández, M. Victoria, Ibañez, L., Sims, R., Escott-Price, V., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lambert, J. Charles, van Duijn, C., Launer, L., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Zhang, B., Borecki, I., Kauwe, J. S. K., Cruchaga, C., Hao, K., and Goate, A. M.,
“A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.”,
Nat Neurosci, vol. 20, no. 8, pp. 1052-1061, 2017.
J. A. Webster, J Gibbs, R., Clarke, J., Ray, M., Zhang, W., Holmans, P., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., McCorquodale, D. S., Cuello, C., Leung, D., Bryden, L., Nath, P., Zismann, V. L., Joshipura, K., Huentelman, M. J., Hu-Lince, D., Coon, K. D., Craig, D. W., Pearson, J. V., Heward, C. B., Reiman, E. M., Stephan, D., Hardy, J., and Myers, A. J.,
“Genetic control of human brain transcript expression in Alzheimer disease.”,
Am J Hum Genet, vol. 84, no. 4, pp. 445-58, 2009.
J. H. Lee, Mayeux, R., Mayo, D., Mo, J., Santana, V., Williamson, J., Flaquer, A., Ciappa, A., Rondon, H., Estevez, P., Lantigua, R., Kawarai, T., Toulina, A., Medrano, M., Torres, M., Stern, Y., Tycko, B., Rogaeva, E., St George-Hyslop, P., and Knowles, J. A.,
“Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics.”,
Mol Psychiatry, vol. 9, no. 11, pp. 1042-51, 2004.
P. Ryvkin, Leung, Y. Yee, Ungar, L. H., Gregory, B. D., and San Wang, L. -,
“Using machine learning and high-throughput RNA sequencing to classify the precursors of small non-coding RNAs.”,
Methods, vol. 67, no. 1, pp. 28-35, 2014.
D. Mastroeni, Sekar, S., Nolz, J., Delvaux, E., Lunnon, K., Mill, J., Liang, W. S., and Coleman, P. D.,
“ANK1 is up-regulated in laser captured microglia in Alzheimer's brain; the importance of addressing cellular heterogeneity.”,
PLoS One, vol. 12, no. 7, p. e0177814, 2017.
A. J. Myers, J Gibbs, R., Webster, J. A., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., Leung, D., Bryden, L., Nath, P., Zismann, V. L., Joshipura, K., Huentelman, M. J., Hu-Lince, D., Coon, K. D., Craig, D. W., Pearson, J. V., Holmans, P., Heward, C. B., Reiman, E. M., Stephan, D., and Hardy, J.,
“A survey of genetic human cortical gene expression.”,
Nat Genet, vol. 39, no. 12, pp. 1494-9, 2007.
E. M. Reiman, Webster, J. A., Myers, A. J., Hardy, J., Dunckley, T., Zismann, V. L., Joshipura, K. D., Pearson, J. V., Hu-Lince, D., Huentelman, M. J., Craig, D. W., Coon, K. D., Liang, W. S., Herbert, R. L. H., Beach, T., Rohrer, K. C., Zhao, A. S., Leung, D., Bryden, L., Marlowe, L., Kaleem, M., Mastroeni, D., Grover, A., Heward, C. B., Ravid, R., Rogers, J., Hutton, M. L., Melquist, S., Petersen, R. C., Alexander, G. E., Caselli, R. J., Kukull, W., Papassotiropoulos, A., and Stephan, D. A.,
“GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.”,
Neuron, vol. 54, no. 5, pp. 713-20, 2007.
K. K. Nicodemus, Stenger, J. E., Schmechel, D. E., Welsh-Bohmer, K. A., Saunders, A. M., Roses, A. D., Gilbert, J. R., Vance, J. M., Haines, J. L., Pericak-Vance, M. A., and Martin, E. R.,
“Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.”,
Neurogenetics, vol. 5, no. 4, pp. 201-8, 2004.
Y. Deming, Xia, J., Cai, Y., Lord, J., Holmans, P., Bertelsen, S., Holtzman, D., Morris, J. C., Bales, K., Pickering, E. H., Kauwe, J., Goate, A., and Cruchaga, C.,
“A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.”,
Neurobiol Aging, vol. 37, pp. 208.e1-208.e9, 2016.
M. T. W. Ebbert, Boehme, K. L., Wadsworth, M. E., Staley, L. A., Mukherjee, S., Crane, P. K., Ridge, P. G., and Kauwe, J. S. K.,
“Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk.”,
Alzheimers Dement, vol. 12, no. 2, pp. 121-129, 2016.
M. Victoria Fernández, Kim, J. Hun, Budde, J. P., Black, K., Medvedeva, A., Saef, B., Deming, Y., Del-Aguila, J., Ibañez, L., Dube, U., Harari, O., Norton, J., Chasse, R., Morris, J. C., Goate, A., and Cruchaga, C.,
“Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.”,
PLoS Genet, vol. 13, no. 11, p. e1007045, 2017.
M. I. Kamboh, Barmada, M. M., Demirci, F. Y., Minster, R. L., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Saykin, A. J., Sweet, R. A., Feingold, E., DeKosky, S. T., and Lopez, O. L.,
“Genome-wide association analysis of age-at-onset in Alzheimer's disease.”,
Mol Psychiatry, vol. 17, no. 12, pp. 1340-6, 2012.
G. Jun, Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J. - C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L. - S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L., Ikram, M. A., Fievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T. M., Choi, S. - H., Boland, A., Becker, T., Kukull, W. A., van der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J. - F., Hampel, H., Kamboh, M. I., de Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., van Duijn, C. M., Schellenberg, G. D., and Farrer, L. A.,
“A novel Alzheimer disease locus located near the gene encoding tau protein.”,
Mol Psychiatry, vol. 21, no. 1, pp. 108-17, 2016.
R. A. Nafikov, Nato, A. Q., Sohi, H., Wang, B., Brown, L., Horimoto, A. R., Vardarajan, B. N., Barral, S. M., Tosto, G., Mayeux, R. P., Thornton, T. A., Blue, E., and Wijsman, E. M.,
“Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP.”,
Genet Epidemiol, vol. 42, no. 6, pp. 500-515, 2018.
L. Bertram, Lange, C., Mullin, K., Parkinson, M., Hsiao, M., Hogan, M. F., Schjeide, B. M. M., Hooli, B., Divito, J., Ionita, I., Jiang, H., Laird, N., Moscarillo, T., Ohlsen, K. L., Elliott, K., Wang, X., Hu-Lince, D., Ryder, M., Murphy, A., Wagner, S. L., Blacker, D., K Becker, D., and Tanzi, R. E.,
“Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.”,
Am J Hum Genet, vol. 83, no. 5, pp. 623-32, 2008.
N. Ertekin-Taner, Ronald, J., Feuk, L., Prince, J., Tucker, M., Younkin, L., Hella, M., Jain, S., Hackett, A., Scanlin, L., Kelly, J., Kihiko-Ehman, M., Neltner, M., Hersh, L., Kindy, M., Markesbery, W., Hutton, M., de Andrade, M., Petersen, R. C., Graff-Radford, N., Estus, S., Brookes, A. J., and Younkin, S. G.,
“Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene.”,
Hum Mol Genet, vol. 14, no. 3, pp. 447-60, 2005.
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.
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.
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