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Search results

  • 2013

    Genetic and neurophysiological correlates of the age of onset of alcohol use disorders in adolescents and young adults

    Chorlian, D. B., Rangaswamy, M., Manz, N., Wang, J. C., Dick, D., Almasy, L., Bauer, L., Bucholz, K., Foroud, T., Hesselbrock, V., Kang, S. J., Kramer, J., Kuperman, S., Nurnberger, J., Rice, J., Schuckit, M., Tischfield, J., Edenberg, H. J., Goate, A., Bierut, L., & 1 othersPorjesz, B., Sep 2013, In: Behavior Genetics. 43, 5, p. 386-401 16 p.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • Genome-wide association study of irritable vs. Elated Mania suggests genetic differences between clinical subtypes of bipolar disorder

    Bipolar Genome Study (BiGS) Consortium, 17 Jan 2013, In: PLoS ONE. 8, 1, e53804.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • GWAS of cerebrospinal fluid tau levels identifies risk variants for alzheimer's disease

    Cruchaga, C., Kauwe, J. S. K., Harari, O., Jin, S. C., 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., & 17 othersGerrish, 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. & Goate, A. M., 24 Apr 2013, In: Neuron. 78, 2, p. 256-268 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    87 Scopus citations
  • Impaired default network functional connectivity in autosomal dominant Alzheimer disease

    Chhatwal, J. P., Schultz, A. P., Johnson, K., Benzinger, T. L. S., Jack, C., Ances, B. M., Sullivan, C. A., Salloway, S. P., Ringman, J. M., Koeppe, R. A., Marcus, D. S., Thompson, P., Saykin, A. J., Correia, S., Schofield, P. R., Rowe, C. C., Fox, N. C., Brickman, A. M., Mayeux, R., McDade, E., & 7 othersBateman, R., Fagan, A. M., Goate, A. M., Xiong, C., Buckles, V. D., Morris, J. C. & Sperling, R. A., 20 Aug 2013, In: Neurology. 81, 8, p. 736-744 9 p.

    Research output: Contribution to journalArticlepeer-review

    120 Scopus citations
  • Increased in vivo amyloid-b42 production, exchange, and loss in presenilin mutation carriers

    Potter, R., Patterson, B. W., Elbert, D. L., Ovod, V., Kasten, T., Sigurdson, W., Mawuenyega, K., Blazey, T., Goate, A., Chott, R., Yarasheski, K. E., Holtzman, D. M., Morris, J. C., Benzinger, T. L. S. & Bateman, R. J., 12 Jun 2013, In: Science Translational Medicine. 5, 189, 189ra77.

    Research output: Contribution to journalArticlepeer-review

    169 Scopus citations
  • Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

    Harms, M. B., Cady, J., Zaidman, C., Cooper, P., Bali, T., Allred, P., Cruchaga, C., Baughn, M., Libby, R. T., Pestronk, A., Goate, A., Ravits, J. & Baloh, R. H., Sep 2013, In: Neurobiology of Aging. 34, 9, p. 2234.e13-2234.e19

    Research output: Contribution to journalArticlepeer-review

    55 Scopus citations
  • Linking Protective GAB2 Variants, Increased Cortical GAB2 Expression and Decreased Alzheimer's Disease Pathology

    Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, 28 May 2013, In: PLoS ONE. 8, 5, e64802.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Scopus citations
  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

    Lambert, J. C., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., Jun, G., DeStefano, A. L., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G., Thornton-Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Ikram, M. A., Zelenika, D., Vardarajan, B. N., & 162 othersKamatani, Y., Lin, C. F., Gerrish, A., Schmidt, H., Kunkle, B., Fiévet, N., Amouyel, P., Pasquier, F., Deramecourt, V., De Bruijn, R. F. A. G., Amin, N., Hofman, A., Van Duijn, C. M., Dunstan, M. L., Hollingworth, P., Owen, M. J., O'Donovan, M. C., Jones, L., Holmans, P. A., Moskvina, V., Williams, J., Baldwin, C., Farrer, L. A., Choi, S. H., Lunetta, K. L., Fitzpatrick, A. L., Harris, T. B., Psaty, B. M., Gilbert, J. R., Hamilton-Nelson, K. L., Martin, E. R., Pericak-Vance, M. A., Haines, J. L., Gudnason, V., Jonsson, P. V., Eiriksdottir, G., Bihoreau, M. T., Lathrop, M., Valladares, O., Cantwell, L. B., Wang, L. S., Schellenberg, G. D., Ruiz, A., Boada, M., Reitz, C., Mayeux, R., Ramirez, A., Maier, W., Hanon, O., Kukull, W. A., Buxbaum, J. D., Campion, D., Wallon, D., Hannequin, D., Crane, P. K., Larson, E. B., Becker, T., Cruchaga, C., Goate, A. M., Craig, D., Johnston, J. A., Mc-Guinness, B., Todd, S., Passmore, P., Berr, C., Ritchie, K., Lopez, O. L., De Jager, P. L., Evans, D., Lovestone, S., Proitsi, P., Powell, J. F., Letenneur, L., Barberger-Gateau, P., Dufouil, C., Dartigues, J. F., Morón, F. J., Rubinsztein, D. C., St. George-Hyslop, P., Sleegers, K., Bettens, K., Van Broeckhoven, C., Huentelman, M. J., Gill, M., Brown, K., Morgan, K., Kamboh, M. I., Keller, L., Fratiglioni, L., Green, R., Myers, A. J., Love, S., Rogaeva, E., Gallacher, J., Bayer, A., Clarimon, J., Lleo, A., Tsuang, D. W., Yu, L., Bennett, D. A., Tsolaki, M., Bossù, P., Spalletta, G., Collinge, J., Mead, S., Sorbi, S., Nacmias, B., Sanchez-Garcia, F., Deniz Naranjo, M. C., Fox, N. C., Hardy, J., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Mancuso, M., Matthews, F., Moebus, S., Mecocci, P., Del Zompo, M., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Mayhaus, M., Pichler, S., Gu, W., Riemenschneider, M., Lannfelt, L., Ingelsson, M., Hakonarson, H., Carrasquillo, M. M., Zou, F., Younkin, S. G., Beekly, D., Alvarez, V., Coto, E., Razquin, C., Pastor, P., Mateo, I., Combarros, O., Faber, K. M., Foroud, T. M., Soininen, H., Hiltunen, M., Blacker, D., Mosley, T. H., Graff, C., Holmes, C., Montine, T. J., Rotter, J. I., Brice, A., Nalls, M. A., Kauwe, J. S. K., Boerwinkle, E., Schmidt, R., Rujescu, D., Tzourio, C., Nöthen, M. M., Launer, L. J. & Seshadri, S., 1 Dec 2013, In: Nature Genetics. 45, 12, p. 1452-1458 7 p.

    Research output: Contribution to journalArticlepeer-review

    2783 Scopus citations
  • Novel progranulin variants do not disrupt progranulin secretion and cleavage

    Karch, C. M., Jeng, A. T., Skorupa, T., Cruchaga, C. & Goate, A. M., Nov 2013, In: Neurobiology of Aging. 34, 11, p. 2538-2540 3 p.

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations
  • Parkinson disease is not associated with C9ORF72 repeat expansions

    Harms, M. B., Neumann, D., Benitez, B. A., Cooper, B., Carrell, D., Racette, B. A., Perlmutter, J. S., Goate, A. & Cruchaga, C., May 2013, In: Neurobiology of Aging. 34, 5, p. 1519.e1-1519.e2

    Research output: Contribution to journalArticlepeer-review

    36 Scopus citations
  • Preclinical trials in autosomal dominant AD: Implementation of the DIAN-TU trial

    Mills, S. M., Mallmann, J., Santacruz, A. M., Fuqua, A., Carril, M., Aisen, P. S., Althage, M. C., Belyew, S., Benzinger, T. L., Brooks, W. S., Buckles, V. D., Cairns, N. J., Clifford, D., Danek, A., Fagan, A. M., Farlow, M., Fox, N., Ghetti, B., Goate, A. M., Heinrichs, D., & 22 othersHornbeck, R., Jack, C., Jucker, M., Klunk, W. E., Marcus, D. S., Martins, R. N., Masters, C. M., Mayeux, R., McDade, E., Morris, J. C., Oliver, A., Ringman, J. M., Rossor, M. N., Salloway, S., Schofield, P. R., Snider, J., Snyder, P., Sperling, R. A., Stewart, C., Thomas, R. G., Xiong, C. & Bateman, R. J., Oct 2013, In: Revue Neurologique. 169, 10, p. 737-743 7 p.

    Research output: Contribution to journalArticlepeer-review

    113 Scopus citations
  • Principal component analysis of PiB distribution in Parkinson and Alzheimer diseases

    Campbell, M. C., Markham, J., Flores, H., Hartlein, J. M., Goate, A. M., Cairns, N. J., Videen, T. O. & Perlmutter, J. S., 6 Aug 2013, In: Neurology. 81, 6, p. 520-527 8 p.

    Research output: Contribution to journalArticlepeer-review

    34 Scopus citations
  • Pupil response biomarkers distinguish Amyloid precursor protein mutation carriers from non-carriers

    Frost, S. M., Kanagasingam, Y., Sohrabi, H. R., Taddei, K., Bateman, R., Morris, J., Benzinger, T., Goate, A., Masters, C. L. & Martins, R. N., 2013, In: Current Alzheimer Research. 10, 8, p. 790-796 7 p.

    Research output: Contribution to journalArticlepeer-review

    23 Scopus citations
  • Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease

    Benzinger, T. L. S., Blazey, T., Jack, C. R., Koeppe, R. A., Su, Y., Xiong, C., Raichle, M. E., Snyder, A. Z., Ances, B. M., Bateman, R. J., Cairns, N. J., Fagan, A. M., Goate, A., Marcus, D. S., Aisen, P. S., Christensen, J. J., Ercole, L., Hornbeck, R. C., Farrar, A. M., Aldea, P., & 30 othersJasielec, M. S., Owen, C. J., Xie, X., Mayeux, R., Brickman, A., McDade, E., Klunk, W., Mathis, C. A., Ringman, J., Thompson, P. M., Ghetti, B., Saykin, A. J., Sperling, R. A., Johnson, K. A., Salloway, S., Correia, S., Schofield, P. R., Masters, C. L., Rowe, C., Villemagne, V. L., Martins, R., Ourselin, S., Rossor, M. N., Fox, N. C., Cash, D. M., Weiner, M. W., Holtzman, D. M., Buckles, V. D., Moulder, K. & Morris, J. C., 19 Nov 2013, In: Proceedings of the National Academy of Sciences of the United States of America. 110, 47, p. E4502-E4509

    Research output: Contribution to journalArticlepeer-review

    Open Access
    120 Scopus citations
  • Stress-response pathways are altered in the hippocampus of chronic alcoholics

    McClintick, J. N., Xuei, X., Tischfield, J. A., Goate, A., Foroud, T., Wetherill, L., Ehringer, M. A. & Edenberg, H. J., Nov 2013, In: Alcohol. 47, 7, p. 505-515 11 p.

    Research output: Contribution to journalArticlepeer-review

    57 Scopus citations
  • The contribution of common UGT2B10 and CYP2A6 alleles to variation in nicotine glucuronidation among european americans

    Bloom, A. J., Von Weymarn, L. B., Martinez, M., Bierut, L. J., Goate, A. & Murphy, S. E., Dec 2013, In: Pharmacogenetics and Genomics. 23, 12, p. 706-716 11 p.

    Research output: Contribution to journalArticlepeer-review

    12 Scopus citations
  • The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

    Benitez, B. A., Karch, C. M., Cai, Y., Jin, S. C., Cooper, B., Carrell, D., Bertelsen, S., Chibnik, L., Schneider, J. A., Bennett, D. A., Fagan, A. M., Holtzman, D., Morris, J. C., Goate, A. M. & Cruchaga, C., Aug 2013, In: PLoS Genetics. 9, 8, e1003685.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    49 Scopus citations
  • The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

    Klebe, S., Golmard, J. L., Nalls, M. A., Saad, M., Singleton, A. B., Bras, J. M., Hardy, J., Simon-Sanchez, J., Heutink, P., Kuhlenbäumer, G., Charfi, R., Klein, C., Hagenah, J., Gasser, T., Wurster, I., Lesage, S., Lorenz, D., Deuschl, G., Durif, F., Pollak, P., & 157 othersDamier, P., Tison, F., Durr, A., Amouyel, P., Lambert, J. C., Tzourio, C., Maubaret, C., Charbonnier-Beaupel, F., Tahiri, K., Vidailhet, M., Martinez, M., Brice, A., Corvol, J. C., Agid, Y., Anheim, M., Bonnet, A. M., Borg, M., Brice, A., Broussolle, E., Corvol, J. C., Damier, P., Destée, A., Durif, F., Klebe, S., Lohmann, E., Martinez, M., Penet, C., Pollak, P., Krack, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., Vidailhet, M., Nalls, M. A., Plagnol, V., Bras, J. M., Hernandez, D. G., Sharma, M., Sheerin, U. M., Schulte, C., Sveinbjörnsdóttir, S., Arepalli, S., Band, G., Vukcevic, D., Barker, R. A., Bellinguez, C., Ben-Shlomo, Y., Berendse, H. W., Berg, D., Bhatia, K., De Bie, R. M. A., Biffi, A., Bloem, B., Bochdanovits, Z., Bonin, M., Brockmann, K., Brooks, J., Burn, D. J., Charlesworth, G., Chen, H., Chinnery, P. F., Chong, S., Clarke, C. E., Cookson, M. R., Cooper, J. M., Corvol, J. C., Counsell, C., Dartigues, J. F., Deloukas, P., Dexter, D. T., Van Dijk, K. D., Dillman, A., Durif, F., Edkins, S., Evans, J. R., Foltynie, T., Freeman, C., Gao, J., Gardner, M., Gibbs, R., Goate, A., Gray, E., Guerreiro, R., Gústafsson, Ó., Harris, C., Hellenthal, G., Van Hilten, J. J., Hofman, A., Hollenbeck, A., Holton, J., Hu, M., Huang, X., Huber, H., Hudson, G., Hunt, S. E., Huttenlocher, J., Illig, T., Jónsson, P. V., Langford, C., Lees, A., Lichtner, P., Limousin, P., Lopez, G., McNeill, A., Moorby, C., Moore, M., Morris, H., Morrison, K. E., Mudanohwo, E., O'Sullivan, S. S., Pearson, J., Pearson, R., Perlmutter, J. S., Pétursson, H., Pirinen, M., Post, B., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Sawcer, S., Schapira, A., Scheffer, H., Shaw, K., Shoulson, I., Sidransky, E., De Silva, R., Smith, C., Spencer, C. C. A., Stefánsson, H., Steinberg, S., Stockton, J. D., Strange, A., Su, Z., Talbot, K., Tanner, C. M., Tashakkori-Ghanbaria, A., Trabzuni, D., Traynor, B. J., Uitterlinden, A. G., Vandrovcova, J., Velseboer, D., Marie Vidailhet, V., Walker, R., Van De Warrenburg, B., Weale, M. E., Wickremaratchi, M., Williams, N., Williams-Gray, C. H., Winder-Rhodes, S., Stefánsson, K., Wood, N. W. & Singleton, A. B., 1 Jun 2013, In: Journal of Neurology, Neurosurgery and Psychiatry. 84, 6, p. 666-673 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    37 Scopus citations
  • TREM2 variants in Alzheimer's disease

    Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J. C., Amouyel, P., Goate, A., Rademakers, R., Morgan, K., & 4 othersPowell, J., George-Hyslop, P. S., Singleton, A. & Hardy, J., 10 Jan 2013, In: New England Journal of Medicine. 368, 2, p. 117-127 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1895 Scopus citations
  • Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein e ε4, and the risk of late-onset Alzheimer disease in African Americans

    Reitz, C., Jun, G., Naj, A., Rajbhandary, R., Vardarajan, B. N., Wang, L. S., Valladares, O., Lin, C. F., Larson, E. B., Graff-Radford, N. R., Evans, D., De Jager, P. L., Crane, P. K., Buxbaum, J. D., Murrell, J. R., Raj, T., Ertekin-Taner, N., Logue, M., Baldwin, C. T., Green, R. C., & 22 othersBarnes, L. L., Cantwell, L. B., Fallin, M. D., Go, R. C. P., Griffith, P., Obisesan, T. O., Manly, J. J., Lunetta, K. L., Kamboh, M. I., Lopez, O. L., Bennett, D. A., Hendrie, H., Hall, K. S., Goate, A. M., Byrd, G. S., Kukull, W. A., Foroud, T. M., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Schellenberg, G. D. & Mayeux, R., 10 Apr 2013, In: JAMA - Journal of the American Medical Association. 309, 14, p. 1483-1492 10 p.

    Research output: Contribution to journalArticlepeer-review

    282 Scopus citations
  • 2012

    ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry

    Bierut, L. J., Goate, A. M., Breslau, N., Johnson, E. O., Bertelsen, S., Fox, L., Agrawal, A., Bucholz, K. K., Grucza, R., Hesselbrock, V., Kramer, J., Kuperman, S., Nurnberger, J., Porjesz, B., Saccone, N. L., Schuckit, M., Tischfield, J., Wang, J. C., Foroud, T., Rice, J. P., & 1 othersEdenberg, H. J., Apr 2012, In: Molecular Psychiatry. 17, 4, p. 445-450 6 p.

    Research output: Contribution to journalArticlepeer-review

    158 Scopus citations
  • Cerebrospinal fluid APOE levels: An endophenotype for genetic studies for Alzheimer's disease

    Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Bales, K., Pickering, E. H., Mayo, K., Bertelsen, S., Hinrichs, A., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Oct 2012, In: Human Molecular Genetics. 21, 20, p. 4558-4571 14 p., dds296.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    156 Scopus citations
  • CHRNB3 is more strongly associated with Fagerström Test for Cigarette Dependence-based nicotine dependence than cigarettes per day: Phenotype definition changes genome-wide association studies results

    Rice, J. P., Hartz, S. M., Agrawal, A., Almasy, L., Bennett, S., Breslau, N., Bucholz, K. K., Doheny, K. F., Edenberg, H. J., Goate, A. M., Hesselbrock, V., Howells, W. B., Johnson, E. O., Kramer, J., Krueger, R. F., Kuperman, S., Laurie, C., Manolio, T. A., Neuman, R. J., Nurnberger, J. I., & 7 othersPorjesz, B., Pugh, E., Ramos, E. M., Saccone, N., Saccone, S., Schuckit, M. & Bierut, L. J., Nov 2012, In: Addiction. 107, 11, p. 2019-2028 10 p.

    Research output: Contribution to journalArticlepeer-review

    60 Scopus citations
  • Clinical and biomarker changes in dominantly inherited Alzheimer's disease

    Bateman, R. J., Xiong, C., Benzinger, T. L. S., Fagan, A. M., Goate, A., Fox, N. C., Marcus, D. S., Cairns, N. J., Xie, X., Blazey, T. M., Holtzman, D. M., Santacruz, A., Buckles, V., Oliver, A., Moulder, K., Aisen, P. S., Ghetti, B., Klunk, W. E., McDade, E., Martins, R. N., & 8 othersMasters, C. L., Mayeux, R., Ringman, J. M., Rossor, M. N., Schofield, P. R., Sperling, R. A., Salloway, S. & Morris, J. C., 30 Aug 2012, In: New England Journal of Medicine. 367, 9, p. 795-804 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2414 Scopus citations
  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

    Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., Guda, N. M., Orlichenko, L., Alkaade, S., Amann, S. T., Anderson, M. A., Baillie, J., Banks, P. A., Conwell, D., Coté, G. A., Cotton, P. B., & 178 othersDiSario, J., Farrer, L. A., Forsmark, C. E., Johnstone, M., Gardner, T. B., Gelrud, A., Greenhalf, W., Haines, J. L., Hartman, D. J., Hawes, R. A., Lawrence, C., Lewis, M., Mayerle, J., Mayeux, R., Melhem, N. M., Money, M. E., Muniraj, T., Papachristou, G. I., Pericak-Vance, M. A., Romagnuolo, J., Schellenberg, G. D., Sherman, S., Simon, P., Singh, V. P., Slivka, A., Stolz, D., Sutton, R., Weiss, F. U., Wilcox, C. M., Zarnescu, N. O., Wisniewski, S. R., O'Connell, M. R., Kienholz, M. L., Roeder, K., Barmada, M. M., Yadav, D., Devlin, B., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barnes, L. L., Beach, T. G., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boxer, A., Burke, J. R., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., Demirci, F. Y., Dick, M., Dickson, D. W., Duara, R., Ertekin-Taner, N., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton-Nelson, K. L., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Jun, G., Kamboh, M. I., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., Kukul, W. A., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lin, C. F., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Lyketsos, C. G., MacK, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Murrel, J. R., Naj, A. C., Olichney, J. M., Parisi, J. E., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rosen, H. J., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Valladares, O., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsatte, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Dec 2012, In: Nature Genetics. 44, 12, p. 1349-1354 6 p.

    Research output: Contribution to journalArticlepeer-review

    231 Scopus citations
  • Copy Number Variations in 6q14.1 and 5q13.2 are Associated with Alcohol Dependence

    Lin, P., Hartz, S. M., Wang, J. C., Agrawal, A., Zhang, T. X., McKenna, N., Bucholz, K., Brooks, A. I., Tischfield, J. A., Edenberg, H. J., Hesselbrock, V. M., Kramer, J. R., Kuperman, S., Schuckit, M. A., Goate, A. M., Bierut, L. J. & Rice, J. P., Sep 2012, In: Alcoholism: Clinical and Experimental Research. 36, 9, p. 1512-1518 7 p.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • Dissection of the phenotypic and genotypic associations with nicotinic dependence

    Chen, L. S., Baker, T. B., Grucza, R., Wang, J. C., Johnson, E. O., Breslau, N., Hatsukami, D., Smith, S. S., Saccone, N., Saccone, S., Rice, J. P., Goate, A. M. & Bierut, L. J., Nov 2012, In: Nicotine and Tobacco Research. 14, 4, p. 425-433 9 p.

    Research output: Contribution to journalArticlepeer-review

    40 Scopus citations
  • Erratum: Smoking and Genetic Risk Variation Across Populations of European, Asian, and African American Ancestry-A Meta-Analysis of Chromosome 15q25

    Chen, L. S., Saccone, N. L., Culverhouse, R. C., Bracci, P. M., Chen, C. H., Dueker, N., Han, Y., Huang, H., Jin, G., Kohno, T., Ma, J. Z., Przybeck, T. R., Sanders, A. R., Smith, J. A., Sung, Y. J., Wenzlaff, A. S., Wu, C., Yoon, D., Chen, Y. T., Cheng, Y. C., & 42 othersCho, Y. S., David, S. P., Duan, J., Eaton, C. B., Furberg, H., Goate, A. M., Gu, D., Hansen, H. M., Hartz, S., Hu, Z., Kim, Y. J., Kittner, S. J., Levinson, D. F., Mosley, T. H., Payne, T. J., Rao, D. C., Rice, J. P., Rice, T. K., Schwantes-An, T. H., Shete, S. S., Shi, J., Spitz, M. R., Sun, Y. V., Tsai, F. J., Wang, J. C., Wrensch, M. R., Xian, H., Gejman, P. V., He, J., Hunt, S. C., Kardia, S. L., Li, M. D., Lin, D., Mitchell, B. D., Park, T., Schwartz, A. G., Shen, H., Wiencke, J. K., Wu, J. Y., Yokota, J., Amos, C. I. & Bierut, L. J., Jul 2012, In: Genetic Epidemiology. 36, 5, p. 525-526 2 p.

    Research output: Contribution to journalComment/debate

  • Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

    Alzheimer's Disease Genetics Consortium, 1 Jan 2012, In: Human Molecular Genetics. 21, 15, p. 3500-3512 13 p.

    Research output: Contribution to journalArticlepeer-review

    149 Scopus citations
  • Exercise engagement as a moderator of the effects of APOE genotype on amyloid deposition

    Head, D., Bugg, J. M., Goate, A. M., Fagan, A. M., Mintun, M. A., Benzinger, T., Holtzman, D. M. & Morris, J. C., May 2012, In: Archives of Neurology. 69, 5, p. 636-643 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    195 Scopus citations
  • Expression of Novel Alzheimer's Disease Risk Genes in Control and Alzheimer's Disease Brains

    Karch, C. M., Jeng, A. T., Nowotny, P., Cady, J., Cruchaga, C. & Goate, A. M., 30 Nov 2012, In: PLoS ONE. 7, 11, e50976.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    223 Scopus citations
  • Extracellular tau levels are influenced by variability in tau that is associated with tauopathies

    Karch, C. M., Jeng, A. T. & Goate, A. M., 14 Dec 2012, In: Journal of Biological Chemistry. 287, 51, p. 42751-42762 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    127 Scopus citations
  • Family-based genome-wide association study of frontal theta oscillations identifies potassium channel gene KCNJ6

    Kang, S. J., Rangaswamy, M., Manz, N., Wang, J. C., Wetherill, L., Hinrichs, T., Almasy, L., Brooks, A., Chorlian, D. B., Dick, D., Hesselbrock, V., Kramer, J., Kuperman, S., Nurnberger, J., Rice, J., Schuckit, M., Tischfield, J., Bierut, L. J., Edenberg, H. J., Goate, A., & 2 othersForoud, T. & Porjesz, B., Aug 2012, In: Genes, Brain and Behavior. 11, 6, p. 712-719 8 p.

    Research output: Contribution to journalArticlepeer-review

    47 Scopus citations
  • Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS)

    the Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium & the Alzheimer’s Research UK (ARUK) Consortium, 1 Aug 2012, In: Neurobiology of Aging. 33, 8, p. 1849.e5-1849.e18

    Research output: Contribution to journalArticlepeer-review

    40 Scopus citations
  • Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory

    Barral, S., Bird, T., Goate, A., Farlow, M. R., Diaz-Arrastia, R., Bennett, D. A., Graff-Radford, N., Boeve, B. F., Sweet, R. A., Stern, Y., Wilson, R. S., Foroud, T., Ott, J. & Mayeux, R., 8 May 2012, In: Neurology. 78, 19, p. 1464-1471 8 p.

    Research output: Contribution to journalArticlepeer-review

    83 Scopus citations
  • Interplay of genetic risk factors (CHRNA 5-CHRNA 3-CHRNB4) and cessation treatments in smoking cessation success

    Chen, L. S., Baker, T. B., Piper, M. E., Breslau, N., Cannon, D. S., Doheny, K. F., Gogarten, S. M., Johnson, E. O., Saccone, N. L., Wang, J. C., Weiss, R. B., Goate, A. M. & Bierut, L. J., 1 Jul 2012, In: American Journal of Psychiatry. 169, 7, p. 735-742 8 p.

    Research output: Contribution to journalArticlepeer-review

    108 Scopus citations
  • In vivo human apolipoprotein E isoform fractional turnover rates in the CNS

    Wildsmith, K. R., Basak, J. M., Patterson, B. W., Pyatkivskyy, Y., Kim, J., Yarasheski, K. E., Wang, J. X., Mawuenyega, K. G., Jiang, H., Parsadanian, M., Yoon, H., Kasten, T., Sigurdson, W. C., Xiong, C., Goate, A., Holtzman, D. M. & Bateman, R. J., 4 Jun 2012, In: PLoS ONE. 7, 6, e38013.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    41 Scopus citations
  • Measuring alcohol consumption for genomic meta-analyses of alcohol intake: Opportunities and challenges

    Agrawal, A., Freedman, N. D., Cheng, Y. C., Lin, P., Shaffer, J. R., Sun, Q., Taylor, K., Yaspan, B., Cole, J. W., Cornelis, M. C., DeSensi, R. S., Fitzpatrick, A., Heiss, G., Kang, J. H., O'Connell, J., Bennett, S., Bookman, E., Bucholz, K. K., Caporaso, N., Crout, R., & 18 othersDick, D. M., Edenberg, H. J., Goate, A., Hesselbrock, V., Kittner, S., Kramer, J., Nurnberger, J. I., Qi, L., Rice, J. P., Schuckit, M., Van Dam, R. M., Boerwinkle, E., Hu, F., Levy, S., Marazita, M., Mitchell, B. D., Pasquale, L. R. & Bierut, L. J., 1 Mar 2012, In: American Journal of Clinical Nutrition. 95, 3, p. 539-547 9 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    29 Scopus citations
  • Pathway Analysis of Smoking Quantity in Multiple GWAS Identifies Cholinergic and Sensory Pathways

    Harari, O., Wang, J. C., Bucholz, K., Edenberg, H. J., Heath, A., Martin, N. G., Pergadia, M. L., Montgomery, G., Schrage, A., Bierut, L. J., Madden, P. F. & Goate, A. M., 5 Dec 2012, In: PLoS ONE. 7, 12, e50913.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

    Jin, S. C., Pastor, P., Cooper, B., Cervantes, S., Benitez, B. A., Razquin, C., Goate, A. & Cruchaga, C., 2012, In: Alzheimer's Research and Therapy. 4, 4, 34.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    83 Scopus citations
  • Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence

    Haller, G., Druley, T., Vallania, F. L., Mitra, R. D., Li, P., Akk, G., Steinbach, J. H., Breslau, N., Johnson, E., Hatsukami, D., Stitzel, J., Bierut, L. J. & Goate, A. M., Feb 2012, In: Human Molecular Genetics. 21, 3, p. 647-655 9 p., ddr498.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

    Cruchaga, C., Chakraverty, S., Mayo, K., Vallania, F. L. M., Mitra, R. D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., Boeve, B. F., Graff-Radford, N. R., St. Jean, P., Lawson, M., Ehm, M. G., Mayeux, R., Goate, A. M. & for the NIA-LOAD - NCRAD Family Study Consortium, T. NIA-LOAD. . NCRAD. F. S. C., 1 Feb 2012, In: PLoS ONE. 7, 2, e31039.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    188 Scopus citations
  • Smoking and genetic risk variation across populations of European, Asian, and African American ancestry-a meta-analysis of chromosome 15q25

    Chen, L. S., Saccone, N. L., Culverhouse, R. C., Bracci, P. M., Chen, C. H., Dueker, N., Han, Y., Huang, H., Jin, G., Kohno, T., Ma, J. Z., Przybeck, T. R., Sanders, A. R., Smith, J. A., Sung, Y. J., Wenzlaff, A. S., Wu, C., Yoon, D., Chen, Y. T., Cheng, Y. C., & 42 othersCho, Y. S., David, S. P., Duan, J., Eaton, C. B., Furberg, H., Goate, A. M., Gu, D., Hansen, H. M., Hartz, S., Hu, Z., Kim, Y. J., Kittner, S. J., Levinson, D. F., Mosley, T. H., Payne, T. J., Rao, D. C., Rice, J. P., Rice, T. K., Schwantes-An, T. H., Shete, S. S., Shi, J., Spitz, M. R., Sun, Y. V., Tsai, F. J., Wang, J. C., Wrensch, M. R., Xian, H., Gejman, P. V., He, J., Hunt, S. C., Kardia, S. L., Li, M. D., Lin, D., Mitchell, B. D., Park, T., Schwartz, A. G., Shen, H., Wiencke, J. K., Wu, J. Y., Yokota, J., Amos, C. I. & Bierut, L. J., May 2012, In: Genetic Epidemiology. 36, 4, p. 340-351 12 p.

    Research output: Contribution to journalArticlepeer-review

    11 Scopus citations
  • The aggregate effect of dopamine genes on dependence symptoms among cocaine users: Cross-validation of a candidate system scoring approach

    Derringer, J., Krueger, R. F., Dick, D. M., Aliev, F., Grucza, R. A., Saccone, S., Agrawal, A., Edenberg, H. J., Goate, A. M., Hesselbrock, V. M., Kramer, J. R., Lin, P., Neuman, R. J., Nurnberger, J. I., Rice, J. P., Tischfield, J. A. & Bierut, L. J., Jul 2012, In: Behavior Genetics. 42, 4, p. 626-635 10 p.

    Research output: Contribution to journalArticlepeer-review

    14 Scopus citations
  • The genetics of substance dependence

    Wang, J. C., Kapoor, M. & Goate, A. M., Sep 2012, In: Annual Review of Genomics and Human Genetics. 13, p. 241-261 21 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    77 Scopus citations
  • The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

    Gerrish, A., Russo, G., Richards, A., Moskvina, V., Ivanov, D., Harold, D., Sims, R., Abraham, R., Hollingworth, P., Chapman, J., Hamshere, M., Pahwa, J. S., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., & 73 othersProitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Johnston, J. A., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Kölsch, H., Heun, R., Schürmann, B., Bussche, H. V. D., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Davies, G., Harris, S. E., Starr, J. M., Deary, I. J., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Jones, L., Holmans, P. A., O'Donovan, M. C., Owen, M. J. & Williams, J., 2012, In: Journal of Alzheimer's Disease. 28, 2, p. 377-387 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    53 Scopus citations
  • Twenty years of Alzheimer's disease-causing mutations

    Goate, A. & Hardy, J., Jan 2012, In: Journal of Neurochemistry. 120, SUPPL. 1, p. 3-8 6 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    108 Scopus citations
  • Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6

    Bloom, A. J., Harari, O., Martinez, M., Madden, P. A. F., Martin, N. G., Montgomery, G. W., Rice, J. P., Murphy, S. E., Bierut, L. J. & Goate, A., Jul 2012, In: Human Molecular Genetics. 21, 13, p. 3050-3062 13 p., dds114.

    Research output: Contribution to journalArticlepeer-review

    31 Scopus citations
  • Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

    Keller, M. F., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simón-Sánchez, J., Mittag, F., Büchel, F., Sharma, M., Gibbs, J. R., Schulte, C., Moskvina, V., Durr, A., Holmans, P., Kilarski, L. L., Guerreiro, R., Hernandez, D. G., Brice, A., Ylikotila, P., Stefánsson, H., & 159 othersMajamaa, K., Morris, H. R., Williams, N., Gasser, T., Heutink, P., Wood, N. W., Hardy, J., Martinez, M., Singleton, A. B., Nalls, M. A., Plagnol, V., Sheerin, U. M., Lesage, S., Sveinbjörnsdóttir, S., Arepalli, S., Barker, R., Ben-Shlomo, Y., Berendse, H. W., Berg, D., Bhatia, K., de Bie, R. M. A., Biffi, A., Bloem, B., Bochdanovits, Z., Bonin, M., Brockmann, K., Brooks, J., Burn, D. J., Charlesworth, G., Chen, H., Chinnery, P. F., Chong, S., Clarke, C. E., Cookson, M. R., Cooper, J. M., Corvol, J. C., Counsell, C., Damier, P., Dartigues, J. F., Deloukas, P., Deuschl, G., Dexter, D. T., van Dijk, K. D., Dillman, A., Durif, F., Dürr, A., Edkins, S., Evans, J. R., Foltynie, T., Gao, J., Gardner, M., Goate, A., Gray, E., Gústafsson, Ó., Harris, C., van Hilten, J. J., Hofman, A., Hollenbeck, A., Holton, J., Hu, M., Huang, X., Huber, H., Hudson, G., Hunt, S. E., Huttenlocher, J., Illig, T., Jónsson, P. V., Lambert, J. C., Langford, C., Lees, A., Lichtner, P., Limousin, P., Lopez, G., Lorenz, D., McNeill, A., Moorby, C., Moore, M., Morrison, K. E., Mudanohwo, E., O'Sullivan, S. S., Pearson, J., Perlmutter, J. S., Pétursson, H., Pollak, P., Post, B., Potter, S. C., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Sawcer, S. J., Schapira, A., Scheffer, H., Shaw, K., Shoulson, I., Sidransky, E., Smith, C., Spencer, C. C. A., Steinberg, S., Stockton, J. D., Strange, A., Talbot, K., Tanner, C. M., Tashakkori-Ghanbaria, A., Tison, F., Trabzuni, D., Traynor, B. J., Uitterlinden, A. G., Velseboer, D., Vidailhet, M., Walker, R., van de Warrenburg, B., Wickremaratchi, M., Williams-Gray, C. H., Winder-Rhodes, S., Stefánsson, K., Donnelly, P., Barroso, I., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Trembath, R. C., Viswanathan, A. C., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R., Su, Z., Vukcevic, D., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P. & McCarthy, M. I., Nov 2012, In: Human Molecular Genetics. 21, 22, p. 4996-5009 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    144 Scopus citations
  • Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking

    Kapoor, M., Wang, J. C., Bertelsen, S., Bucholz, K., Budde, J. P., Hinrichs, A., Agrawal, A., Brooks, A., Chorlian, D., Dick, D., Hesselbrock, V., Foroud, T., Kramer, J., Kuperman, S., Manz, N., Nurnberger, J., Porjesz, B., Rice, J., Tischfield, J., Xuei, X., & 4 othersSchuckit, M., Edenberg, H. J., Bierut, L. J. & Goate, A. M., 16 Mar 2012, In: PLoS ONE. 7, 3, e33513.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    22 Scopus citations