Carlos Cruchaga

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Carlos Cruchaga

Barbara Burton & Reuben Morriss III Professor, Professor of Psychiatry, Professor of Neurology, Professor of Genetics

 https://orcid.org/0000-0002-0276-2899

    Willing to Mentor

    Available to Mentor:

    PhD/MSTP Students, Post-Baccalaureate Students, Postdocs, Residents and Fellows, Undergraduate Students

    • 40278
      Citations
    20032025

    Research activity per year

    Search results

    • 2014

      Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage Alzheimer's disease in multiplex immunoassay panels of cerebrospinal fluid

      Harari, O., Cruchaga, C., Kauwe, J. S. K., Ainscough, B. J., Bales, K., Pickering, E. H., Bertelsen, S., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., May 1 2014, In: Biological Psychiatry. 75, 9, p. 723-731 9 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      75 Scopus citations

    • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

      Cruchaga, C., Karch, C. M., Jin, S. C., 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., Hardy, J. & Trabzuni, D. & 60 others, Weale, M. E., Ramasamy, A., Smith, C., Sassi, C., Bras, J., Gibbs, J. R., Hernandez, D. G., Lupton, M. K., Powell, J., Forabosco, P., Ridge, P. G., Corcoran, C. D., Tschanz, J. T., Norton, M. C., Munger, R. G., Schmutz, C., Leary, M., Demirci, F. Y., Bamne, M. N., Wang, X., Lopez, O. L., Ganguli, M., Medway, C., Turton, J., Lord, J., Braae, A., Barber, I., Brown, K., Passmore, P., Craig, D., Johnston, J., McGuinness, B., Todd, S., Heun, R., Kölsch, H., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Mann, D. M., Pickering-Brown, S., Kalsheker, N., Lowe, J., Morgan, K., David Smith, A., Wilcock, G., Warden, D., Holmes, C., Pastor, P., Lorenzo-Betancor, O., Brkanac, Z., Scott, E., Topol, E., Rogaeva, E., Singleton, A. B., Kamboh, M. I., St George-Hyslop, P., Cairns, N., Morris, J. C., Kauwe, J. S. K. & Goate, A. M., 2014, In: Nature. 505, 7484, p. 550-554 5 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      391 Scopus citations

    • Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

      Buchan, J. G., Alvarado, D. M., Haller, G. E., Cruchaga, C., Harms, M. B., Zhang, T., Willing, M. C., Grange, D. K., Braverman, A. C., Miller, N. H., Morcuende, J. A., Tang, N. L. E. S., Lam, T. P., Ng, B. K. I. W., Cheng, J. C. H. Y., Dobbs, M. B. & Gurnett, C. A., Oct 1 2014, In: Human molecular genetics. 23, 19, p. 5271-5282 12 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      98 Scopus citations

    • SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease

      International Genomics of Alzheimer's Project (IGAP) & Alzheimer's Disease Neuroimaging Initiative (ADNI), Dec 15 2014, In: Human molecular genetics. 23, 24, p. 6644-6658 15 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      39 Scopus citations

    • The epigenetic landscape of Alzheimer's disease

      Lord, J. & Cruchaga, C., Sep 2014, In: Nature neuroscience. 17, 9, p. 1138-1140 3 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      98 Scopus citations

    • TMEM106B: A strong FTLD disease modifier

      Deming, Y. & Cruchaga, C., Mar 2014, In: Acta Neuropathologica. 127, 3, p. 419-422 4 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      21 Scopus citations

    • TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis

      Cady, J., Koval, E. D., Benitez, B. A., Zaidman, C., Jockel-Balsarotti, J., Allred, P., Baloh, R. H., Ravits, J., Simpson, E., Appel, S. H., Pestronk, A., Goate, A. M., Miller, T. M., Cruchaga, C. & Harms, M. B., Apr 2014, In: JAMA Neurology. 71, 4, p. 449-453 5 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      225 Scopus citations

    • Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: The Cache County Dementia Progression Study

      Peterson, D., Munger, C., Crowley, J., Corcoran, C., Cruchaga, C., Goate, A. M., Norton, M. C., Green, R. C., Munger, R. G., Breitner, J. C. S., Welsh-Bohmer, K. A., Lyketsos, C., Tschanz, J. & Kauwe, J. S. K., May 2014, In: Alzheimer's and Dementia. 10, 3, p. 366-371 6 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      30 Scopus citations
    • 2013

      C9orf72 hexanucleotide repeat expansions in clinical alzheimer disease

      Harms, M., Benitez, B. A., Cairns, N., Cooper, B., Cooper, P., Mayo, K., Carrell, D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., Boeve, B. F., Graff-Radford, N. R., Mayeux, R., Chakraverty, S., Goate, A. M. & Cruchaga, C., Jun 2013, In: JAMA Neurology. 70, 6, p. 736-741 6 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      92 Scopus citations

    • Characterizing the Role of Brain Derived Neurotrophic Factor Genetic Variation in Alzheimer's Disease Neurodegeneration

      Honea, R. A., Cruchaga, C., Perea, R. D., Saykin, A. J., Burns, J. M., Weinberger, D. R. & Goate, A. M., Sep 26 2013, In: PloS one. 8, 9, e76001.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      50 Scopus citations

    • Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (Nature Genetics (2009) 41 (1088-1093))

      Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Singh Pahwa, J., Moskvina, V., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C. & Rubinsztein, D. C. & 66 others, Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., 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., Schürmann, B., Van Den Bussche, H., 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., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, D. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., 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., Holmans, P. A., O'Donovan, M., Owen, M. J. & Williams, J., Jun 2013, In: Nature Genetics. 45, 6, p. 712 1 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      7 Scopus citations

    • Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis

      Anasagasti, A., Barandika, O., Irigoyen, C., Benitez, B. A., Cooper, B., Cruchaga, C., López de Munain, A. & Ruiz-Ederra, J., Nov 2013, In: Experimental eye research. 116, p. 386-394 9 p.

      Research output: Contribution to journal › Article › peer-review

      14 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 others, 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. & Goate, A. M., Apr 24 2013, In: Neuron. 78, 2, p. 256-268 13 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      313 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 journal › Article › peer-review

      Open Access
      62 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, May 28 2013, In: PloS one. 8, 5, e64802.

      Research output: Contribution to journal › Article › peer-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 others, Kamatani, 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., Dec 1 2013, In: Nature Genetics. 45, 12, p. 1452-1458 7 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      3296 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 journal › Article › peer-review

      Open Access
      6 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 journal › Article › peer-review

      Open Access
      37 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 journal › Article › peer-review

      Open Access
      55 Scopus citations

    • TREM2 and neurodegenerative disease

      Benitez, B. A. & Cruchaga, C., 2013, In: New England Journal of Medicine. 369, 16, p. 1567-1568 2 p.

      Research output: Contribution to journal › Letter › peer-review

      Open Access
      83 Scopus citations

    • TREM2 is associated with the risk of Alzheimer's disease in Spanish population

      Benitez, B. A., Cooper, B., Pastor, P., Jin, S. C., Lorenzo, E., Cervantes, S. & Cruchaga, C., Jun 2013, In: Neurobiology of Aging. 34, 6, p. 1711.e15-1711.e17

      Research output: Contribution to journal › Article › peer-review

      Open Access
      128 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 others, Powell, J., George-Hyslop, P. S., Singleton, A. & Hardy, J., Jan 10 2013, In: New England Journal of Medicine. 368, 2, p. 117-127 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      2313 Scopus citations
    • 2012

      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 journal › Article › peer-review

      Open Access
      176 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 others, DiSario, 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 journal › Article › peer-review

      Open Access
      291 Scopus citations

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

      Coppola, G., Chinnathambi, S., Lee, J. J. Y., Dombroski, B. A., Baker, M. C., Soto-ortolaza, A. I., Lee, S. E., Klein, E., Huang, A. Y., Sears, R., Lane, J. R., Karydas, A. M., Kenet, R. O., Biernat, J., Wang, L. S., Cotman, C. W., Decarli, C. S., Levey, A. I., Ringman, J. M. & Mendez, M. F. & 210 others, Chui, H. C., Le ber, I., Brice, A., Lupton, M. K., Preza, E., Lovestone, S., Powell, J., Graff-radford, N., Petersen, R. C., Boeve, B. F., Lippa, C. F., Bigio, E. H., Mackenzie, I., Finger, E., Kertesz, A., Caselli, R. J., Gearing, M., Juncos, J. L., Ghetti, B., Spina, S., Bordelon, Y. M., Tourtellotte, W. W., Frosch, M. P., Vonsattel, J. P. G., Zarow, C., Beach, T. G., Albin, R. L., Lieberman, A. P., Lee, V. M., Trojanowski, J. Q., Van deerlin, V. M., Bird, T. D., Galasko, D. R., Masliah, E., White, C. L., Troncoso, J. C., Hannequin, D., Boxer, A. L., Geschwind, M. D., Kumar, S., Mandelkow, E. M., Wszolek, Z. K., Uitti, R. J., Dickson, D. W., Haines, J. L., Mayeux, R., Pericak-vance, M. A., Farrer, L. A., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barmada, M. M., Beach, T., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Buros, J., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carlson, C. S., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Crane, P. K., Cruchaga, C., Cummings, J. L., De Jager, P. L., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Dombroski, B. A., Duara, R., Ellis, W. G., Ertekin-Taner, N. N., Evans, D., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Gallins, P. J., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hardy, J., Harrell, L. E., Head, E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Johnson, N., Jun, G., Kamboh, M. I., Karlawish, J., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, P., Kukull, W. A., Lah, J. J., Larson, E. B., Levey, A. I., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Mack, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Myers, A. J., Naj, A. C., Nowotny, P., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Rajbhandary, R. A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., George-Hyslop, P. S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Younkin, S. G., Ross, O. A., Rademakers, R., Schellenberg, G. D., Miller, B. L., Mandelkow, E. & Geschwind, D. H., Jan 1 2012, In: Human molecular genetics. 21, 15, p. 3500-3512 13 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      205 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., Nov 30 2012, In: PloS one. 7, 11, e50976.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      268 Scopus citations

    • Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis

      Greaves, J., Lemonidis, K., Gorleku, O. A., Cruchaga, C., Grefen, C. & Chamberlain, L. H., Oct 26 2012, In: Journal of Biological Chemistry. 287, 44, p. 37330-37339 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      52 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 journal › Article › peer-review

      Open Access
      91 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.N.-L. N. F. S. C., Feb 1 2012, In: PloS one. 7, 2, e31039.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      262 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 others, Proitsi, 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 journal › Article › peer-review

      Open Access
      58 Scopus citations
    • 2011

      Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease

      Cruchaga, C., Nowotny, P., Kauwe, J. S. K., Ridge, P. G., Mayo, K., Bertelsen, S., Hinrichs, A., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Aug 2011, In: Archives of neurology. 68, 8, p. 1013-1019 7 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      97 Scopus citations

    • Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

      Cruchaga, C., Graff, C., Chiang, H. H., Wang, J., Hinrichs, A. L., Spiegel, N., Bertelsen, S., Mayo, K., Norton, J. B., Morris, J. C. & Goate, A., May 2011, In: Archives of neurology. 68, 5, p. 581-586 6 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      142 Scopus citations

    • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

      Hollingworth, P., Harold, D., Sims, R., Gerrish, A., Lambert, J. C., Carrasquillo, M. M., Abraham, R., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Jones, N., Stretton, A., Thomas, C., Richards, A., Ivanov, D., Widdowson, C., Chapman, J., Lovestone, S. & Powell, J. & 152 others, Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Beaumont, H., Warden, D., Wilcock, G., Love, S., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Hardy, J., Mead, S., Fox, N. C., Rossor, M., Collinge, J., Maier, W., Jessen, F., Rüther, E., Schürmann, B., Heun, R., Kölsch, H., Van Den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Gallacher, J., Hüll, M., Rujescu, D., Giegling, I., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., 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., Pankratz, V. S., Sando, S. B., Aasly, J. O., Barcikowska, M., Wszolek, Z. K., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Van Duijn, C. M., Breteler, M. M. B., Ikram, M. A., Destefano, A. L., Fitzpatrick, A. L., Lopez, O., Launer, L. J., Seshadri, S., Berr, C., Campion, D., Epelbaum, J., Dartigues, J. F., Tzourio, C., Alpérovitch, A., Lathrop, M., Feulner, T. M., Friedrich, P., Riehle, C., Krawczak, M., Schreiber, S., Mayhaus, M., Nicolhaus, S., Wagenpfeil, S., Steinberg, S., Stefansson, H., Stefansson, K., SnÆdal, J., Björnsson, S., Jonsson, P. V., Chouraki, V., Genier-Boley, B., Hiltunen, M., Soininen, H., Combarros, O., Zelenika, D., Delepine, M., Bullido, M. J., Pasquier, F., Mateo, I., Frank-Garcia, A., Porcellini, E., Hanon, O., Coto, E., Alvarez, V., Bosco, P., Siciliano, G., Mancuso, M., Panza, F., Solfrizzi, V., Nacmias, B., Sorbi, S., Bossù, P., Piccardi, P., Arosio, B., Annoni, G., Seripa, D., Pilotto, A., Scarpini, E., Galimberti, D., Brice, A., Hannequin, D., Licastro, F., Jones, L., Holmans, P. A., Jonsson, T., Riemenschneider, M., Morgan, K., Younkin, S. G., Owen, M. J., O'Donovan, M., Amouyel, P. & Williams, J., May 2011, In: Nature Genetics. 43, 5, p. 429-436 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      1657 Scopus citations

    • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

      Naj, A. C., Jun, G., Beecham, G. W., Wang, L. S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., Larson, E. B., Bird, T. D., Boeve, B. F., Graff-Radford, N. R., De Jager, P. L., Evans, D., Schneider, J. A., Carrasquillo, M. M., Ertekin-Taner, N. & Younkin, S. G. & 135 others, Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Kramer, P., Hardy, J., Huentelman, M. J., Myers, A. J., Barmada, M. M., Demirci, F. Y., Baldwin, C. T., Green, R. C., Rogaeva, E., George-Hyslop, P. S., Arnold, S. E., Barber, R., Beach, T., Bigio, E. H., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Carlson, C. S., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Cummings, J. L., Decarli, C., Dekosky, S. T., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Ellis, W. G., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Johnson, N., Karlawish, J., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Lah, J. J., Levey, A. I., Lieberman, A. P., Lopez, O. L., MacK, W. J., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Quinn, J. F., Rajbhandary, R. A., Raskind, M., Reisberg, B., Ringman, J. M., Roberson, E. D., Rosenberg, R. N., Sano, M., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Cantwell, L. B., Dombroski, B. A., Beekly, D., Lunetta, K. L., Martin, E. R., Kamboh, M. I., Saykin, A. J., Reiman, E. M., Bennett, D. A., Morris, J. C., Montine, T. J., Goate, A. M., Blacker, D., Tsuang, D. W., Hakonarson, H., Kukull, W. A., Foroud, T. M., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A. & Schellenberg, G. D., May 2011, In: Nature Genetics. 43, 5, p. 436-443 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      1614 Scopus citations

    • Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy

      Ezquerra, M., Pastor, P., Gaig, C., Vidal-Taboada, J. M., Cruchaga, C., Muñoz, E., Martí, M. J., Valldeoriola, F., Aguilar, M., Calopa, M., Hernandez-Vara, J. & Tolosa, E., Mar 2011, In: Neurobiology of Aging. 32, 3, p. 547.e11-547.e16

      Research output: Contribution to journal › Article › peer-review

      30 Scopus citations

    • Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

      Benitez, B. A., Alvarado, D., Cai, Y., Mayo, K., Chakraverty, S., Norton, J., Morris, J. C., Sands, M. S., Goate, A. & Cruchaga, C., Nov 4 2011, In: PloS one. 6, 11, e26741.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      92 Scopus citations

    • Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

      Kauwe, J. S. K., Cruchaga, C., Karch, C. M., Sadler, B., Lee, M., Mayo, K., Latu, W., Su'a, M., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., 2011, In: PloS one. 6, 2, e15918.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      59 Scopus citations

    • Human apoE isoforms differentially regulate brain amyloid-β peptide clearance

      Castellano, J. M., Kim, J., Stewart, F. R., Jiang, H., DeMattos, R. B., Patterson, B. W., Fagan, A. M., Morris, J. C., Mawuenyega, K. G., Cruchaga, C., Goate, A. M., Bales, K. R., Paul, S. M., Bateman, R. J. & Holtzman, D. M., Jun 29 2011, In: Science translational medicine. 3, 89, 89ra57.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      940 Scopus citations
    • 2010

      Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

      Jones, L., Holmans, P. A., Hamshere, M. L., Harold, D., Moskvina, V., Ivanov, D., Pocklington, A., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Pahwa, J. S., Jones, N., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K. & Brayne, C. & 62 others, Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., Mcguinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., van den Bussche, H., Heuser, I., Peters, O., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Harald, 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., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Rüther, E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Hardy, J., O'Donovan, M. C., Owen, M. J. & Williams, J., 2010, In: PloS one. 5, 11, e13950.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      335 Scopus citations

    • Pathogenic cysteine mutations affect progranulin function and production of mature granulins

      Wang, J., Van Damme, P., Cruchaga, C., Gitcho, M. A., Vidal, J. M., Seijo-Martínez, M., Wang, L., Wu, J. Y., Robberecht, W. & Goate, A., Mar 2010, In: Journal of Neurochemistry. 112, 5, p. 1305-1315 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      77 Scopus citations

    • SNPs associated with cerebrospinal fluid Phospho-tau levels influence rate of decline in alzheimer's disease

      Cruchaga, C., Kauwe, J. S. K., Mayo, K., Spiegel, N., Bertelsen, S., Nowotny, P., Shah, A. R., Abraham, R., Hollingworth, P., Harold, D., Owen, M. M., Williams, J., Lovestone, S., Peskind, E. R., Li, G., Leverenz, J. B., Galasko, D., Morris, J. C., Fagan, A. M. & Holtzman, D. M. & 1 others, Goate, A. M., Sep 1 2010, In: PLoS genetics. 6, 9, e1001101.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      108 Scopus citations

    • Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease

      Kauwe, J. S. K., Bertelsen, S., Mayo, K., Cruchaga, C., Abraham, R., Hollingworth, P., Harold, D., Owen, M. J., Williams, J., Lovestone, S., Morris, J. C. & Goate, A. M., Jun 2010, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 153, 4, p. 955-959 5 p.

      Research output: Contribution to journal › Article › peer-review

      49 Scopus citations

    • Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels

      Kauwe, J. S. K., Cruchaga, C., Bertelsen, S., Mayo, K., Latu, W., Nowotny, P., Hinrichs, A. L., Fagan, A. M., Holtzman, D. M., Alzheimer'S Disease Neuroimaging Initiative, D. N. I. & Goate, A. M., 2010, In: Journal of Alzheimer's Disease. 21, 3, p. 833-842 10 p.

      Research output: Contribution to journal › Article › peer-review

      40 Scopus citations
    • 2009

      5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

      Cruchaga, C., Vidal-Taboada, J. M., Ezquerra, M., Lorenzo, E., Martinez-Lage, P., Blazquez, M., Tolosa, E., Pastor, P., Gaig, C., Marti, M. J., Molinuevo, J. L., Valldeoriola, F., Campdelacreu, J., Masdeuf, J. C., Luquín, R., Obesof, J. A., Pastor, M. A., Riverol, M., Rodriguezf, M. C. & Villoslada, P. & 7 others, Tuñon, T., Huerta, C., Alvarez, V., Calopa, M., Erro, E., Rojo, A. & Ruiz, J., Feb 1 2009, In: Neurobiology of Disease. 33, 2, p. 164-170 7 p.

      Research output: Contribution to journal › Article › peer-review

      27 Scopus citations

    • Cortical atrophy and language network reorganization associated with a novel progranulin mutation

      Cruchaga, C., Fernández-Seara, M. A., Seijo-Martínez, M., Samaranch, L., Lorenzo, E., Hinrichs, A., Irigoyen, J., Maestro, C., Prieto, E., Martí-Climent, J. M., Arbizu, J., Pastor, M. A. & Pastor, P., Aug 2009, In: Cerebral Cortex. 19, 8, p. 1751-1760 10 p.

      Research output: Contribution to journal › Article › peer-review

      43 Scopus citations

    • Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (Nature Genetics) (2009) 41 (1088-1093))

      Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C. & Rubinsztein, D. C. & 67 others, Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., 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., Schürmann, B., Heun, R., Van Den Bussche, H., 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., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Guerreiro, R., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Holmans, P. A., O'Donovan, M., Owen, M. J. & Williams, J., Oct 1 2009, In: Nature Genetics. 41, 10, p. 1156 1 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      7 Scopus citations

    • Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence

      Wang, J. C., Grucza, R., Cruchaga, C., Hinrichs, A. L., Bertelsen, S., Budde, J. P., Fox, L., Goldstein, E., Reyes, O., Saccone, N., Saccone, S., Xuei, X., Bucholz, K., Kuperman, S., Nurnberger, J., Rice, J. P., Schuckit, M., Tischfield, J., Hesselbrock, V. & Porjesz, B. & 3 others, Edenberg, H. J., Bierut, L. J. & Goate, A. M., May 2009, In: Molecular Psychiatry. 14, 5, p. 501-510 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      179 Scopus citations

    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

      Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C. & Rubinsztein, D. C. & 65 others, Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., 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., Schürmann, B., Heun, R., Van Den Bussche, H., 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., Sleegers, K., Bettens, K., Engelborghs, S., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., 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., Holmans, P. A., O'Donovan, M., Owen, M. J. & Williams, J., Oct 1 2009, In: Nature Genetics. 41, 10, p. 1088-1093 6 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      2390 Scopus citations

    • Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5

      Wang, J. C., Cruchaga, C., Saccone, N. L., Bertelsen, S., Liu, P., Budde, J. P., Duan, W., Fox, L., Grucza, R. A., Kern, J., Mayo, K., Reyes, O., Rice, J., Saccone, S. F., Spiegel, N., Steinbach, J. H., Stitzel, J. A., Anderson, M. W., You, M. & Stevens, V. L. & 26 others, Bierut, L. J., Goate, A. M., Breslau, N., Culverhouse, R., Hatsukami, D., Hinrichs, A., Johnson, E., Vikis, H., Lu, Y., Wang, Y., Yang, P., Pinney, S. M., Petersen, G. M., de Andrade, M., Schwartz, A. G., Gazdar, A., Gaba, C., Mandal, D., Kupert, E., Lee, J., Seminara, D., Fain, P. R., Minna, J., Bailey-Wilson, J. E., Li, Y. & Amos, C. I., 2009, In: Human molecular genetics. 18, 16, p. 3125-3135 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      156 Scopus citations

    • Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with alzheimer's disease

      Fenoglio, C., Galimberti, D., Cortini, F., Kauwe, J. S. K., Cruchaga, C., Venturelli, E., Villa, C., Serpente, M., Scalabrini, D., Mayo, K., Piccio, L. M., Clerici, F., Albani, D., Mariani, C., Forloni, G., Bresolin, N., Goate, A. M. & Scarpini, E., 2009, In: Journal of Alzheimer's Disease. 18, 3, p. 603-612 10 p.

      Research output: Contribution to journal › Article › peer-review

      61 Scopus citations