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

    • 39219
      Citations
    20032025

    Research activity per year

    Search results

    • 2016

      Phenotypic similarities between late-onset Autosomal dominant and sporadic Alzheimer disease a single-family case-control study

      Day, G. S., Musiek, E. S., Roe, C. M., Norton, J., Goate, A. M., Cruchaga, C., Cairns, N. J. & Morris, J. C., Sep 1 2016, In: JAMA Neurology. 73, 9, p. 1125-1132 8 p.

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

      Open Access
      19 Scopus citations

    • Pooled-DNA sequencing for elucidating new genomic risk factors, rare variants underlying Alzheimer’s disease

      Jin, S. C., Benitez, B. A., Deming, Y. & Cruchaga, C., 2016, In: Methods in Molecular Biology. 1303, p. 299-314 16 p.

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

      4 Scopus citations

    • Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease

      Benitez, B. A., Davis, A. A., Jin, S. C., Ibanez, L., Ortega-Cubero, S., Pastor, P., Choi, J., Cooper, B., Perlmutter, J. S. & Cruchaga, C., Apr 19 2016, In: Molecular neurodegeneration. 11, 1, 97.

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

      Open Access
      57 Scopus citations

    • Shared genetic contribution to ischemic stroke and Alzheimer's disease

      Traylor, M., Adib-Samii, P., Harold, D., Dichgans, M., Williams, J., Lewis, C. M., Markus, H. S., Fornage, M., Holliday, E. G., Sharma, P., Bis, J. C., Psaty, B. M., Seshadri, S., Nalls, M. A., Devan, W. J., Boncoraglio, G., Malik, R., Mitchell, B. D., Kittner, S. J. & Ikram, M. A. & 188 others, Clarke, R., Rosand, J., Meschia, J. F., Sudlow, C., Rothwell, P. M., Levi, C., Bevan, S., Kilarski, L. L., Walters, M., Thijs, V., Slowik, A., Lindgren, A., De Bakker, P. I. W., Lambert, J. C., Ibrahim-Verbaas, C. A., Naj, A. C., Sims, R., Bellenguez, C., Jun, G., Destefano, A. L., Beecham, G. W., Grenier-Boley, B., Russo, G., Thornton-Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C. F., Gerrish, A., Schmidt, H., Kunkle, B., Dunstan, M. L., Ruiz, A., Bihoreau, M. T., Choi, S. H., Reitz, C., Pasquier, F., Hollingworth, P., Ramirez, A., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Baldwin, C., Becker, T., Gudnason, V., Cruchaga, C., Craig, D., Amin, N., Berr, C., Lopez, O. L., De Jager, P. L., Deramecourt, V., Johnston, J. A., Evans, D., Lovestone, S., Letenneur, L., Morón, F. J., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiçvet, N., Huentelman, M. J., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuinness, B., Larson, E. B., Green, R., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., Love, S., Rogaeva, E., Gallacher, J., St George-Hyslop, P., Clarimon, J., Lleo, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Sanchez-Garcia, F., Fox, N. C., Hardy, J., Deniz Naranjo, M. C., Bosco, P., Brayne, C., Galimberti, D., Mancuso, M., Matthews, F., Moebus, S., Mecocci, P., Del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Nacmias, B., Gilbert, J. R., Mayhaus, M., Lannfelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alvarez, V., Zou, F., Valladares, O., Younkin, S. G., Coto, E., Hamilton-Nelson, K. L., Gu, W., Razquin, C., Pastor, P., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Holmes, C., De Bruijn, R. F. A. G., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S. K., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltunen, M., Martin, E. R., Schmidt, R., Rujescu, D., Wang, L. S., Dartigues, J. F., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Jones, L., Haines, J. L., Holmans, P. A., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Farrer, L. A., Van Duijn, C. M., Van Broeckhoven, C., Moskvina, V., Schellenberg, G. D. & Amouyel, P., May 1 2016, In: Annals of neurology. 79, 5, p. 739-747 9 p.

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

      Open Access
      54 Scopus citations

    • SORL1 variants across Alzheimer's disease European American cohorts

      Fernández, M. V., Black, K., Carrell, D., Saef, B., Budde, J., Deming, Y., Howells, B., Del-Aguila, J. L., Ma, S., Bi, C., Norton, J., Chasse, R., Morris, J., Goate, A. & Cruchaga, C., Dec 1 2016, In: European Journal of Human Genetics. 24, 12, p. 1828-1830 3 p.

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

      Open Access
      15 Scopus citations

    • The role of cardiovascular risk factors and stroke in familial Alzheimer disease

      Tosto, G., Bird, T. D., Bennett, D. A., Boeve, B. F., Brickman, A. M., Cruchaga, C., Faber, K., Foroud, T. M., Farlow, M., Goate, A. M., Graff-Radford, N. R., Lantigua, R., Manly, J., Ottman, R., Rosenberg, R., Schaid, D. J., Schupf, N., Stern, Y., Sweet, R. A. & Mayeux, R., Oct 1 2016, In: JAMA Neurology. 73, 10, p. 1231-1237 7 p.

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

      Open Access
      47 Scopus citations

    • TYROBP genetic variants in early-onset Alzheimer's disease

      Pottier, C., Ravenscroft, T. A., Brown, P. H., Finch, N. C. A., Baker, M., Parsons, M., Asmann, Y. W., Ren, Y., Christopher, E., Levitch, D., van Blitterswijk, M., Cruchaga, C., Campion, D., Nicolas, G., Richard, A. C., Guerreiro, R., Bras, J. T., Zuchner, S., Gonzalez, M. A. & Bu, G. & 10 others, Younkin, S., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Ertekin-Taner, N., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Dec 1 2016, In: Neurobiology of Aging. 48, p. 222.e9-222.e15

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

      Open Access
      74 Scopus citations

    • Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression

      Davis, A. A., Andruska, K. M., Benitez, B. A., Racette, B. A., Perlmutter, J. S. & Cruchaga, C., Jan 1 2016, In: Neurobiology of Aging. 37, p. 209.e1-209.e7

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

      Open Access
      85 Scopus citations

    • Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke

      Metastroke Consortium, ISGC Consortium and Genestroke Consortium, Carrera, C., Jiménez-Conde, J., Derdak, S., Rabionet, K., Vives-Bauzá, C., Soriano-Tárrega, C., Giralt-Steinhauer, E., Mola-Caminal, M., Diaz-Navarro, R. M., Tur, S., Muiño, E., Gallego-Fabrega, C., Beltran, S., Roquer, J., Ruiz, A., Sotolongo-Grau, O., Krupinski, J., Lee, J. M. & Cruchaga, C. & 6 others, Delgado, P., Malik, R., Worrall, B. B., Seshadri, S., Montaner, J. & Fernández-Cadenas, I., Dec 2016, In: Thrombosis and haemostasis. 116, 6, p. 1165-1171 7 p., A019.

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

      6 Scopus citations
    • 2015

      Alzheimer's disease: Rare variants with large effect sizes

      Del-Aguila, J. L., Koboldt, D. C., Black, K., Chasse, R., Norton, J., Wilson, R. K. & Cruchaga, C., Aug 1 2015, In: Current Opinion in Genetics and Development. 33, p. 49-55 7 p.

      Research output: Contribution to journal › Review article › peer-review

      31 Scopus citations

    • Association of long runs of homozygosity with Alzheimer disease among African American individuals

      Ghani, M., Reitz, C., Cheng, R., Vardarajan, B. N., Jun, G., Sato, C., Naj, A., Rajbhandary, R., 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. & 153 others, Logue, M., Baldwin, C. T., Green, R. C., Barnes, L. L., Cantwell, L. B., Fallin, M. D., Go, R. C. P., Griffith, P. A., 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., Lee, J. H., Schellenberg, G. D., St. George-Hyslop, P., Mayeux, R., Rogaeva, E., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Barber, R., Barmada, M. M., Beach, T. G., Beecham, G. W., Beekly, D., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cai, G., Cairns, N. J., Cao, C., Carlson, C. S., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Dick, M., Faber, K. M., Fallon, K. B., Ferris, S., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hamilton-Nelson, K. L., Haroutunian, V., Harrell, L. E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., LaFerla, F. M., Lah, J. J., Lang-Walker, R., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lyketsos, C. G., 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., Montine, T. J., Morris, J. 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., Ringman, J. M., Roberson, E. D., 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., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Nov 2015, In: JAMA Neurology. 72, 11, p. 1313-1323 11 p.

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

      Open Access
      35 Scopus citations

    • Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study

      Alzheimer’s Disease Genetics Consortium, The GERAD1 Consortium & EPIC-InterAct Consortium, Jun 1 2015, In: PLoS medicine. 12, 6, e1001841.

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

      Open Access
      149 Scopus citations

    • Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss

      Benitez, B. A., Cairns, N. J., Schmidt, R. E., Morris, J. C., Norton, J. B., Cruchaga, C. & Sands, M. S., Nov 26 2015, In: Acta Neuropathologica Communications. 3, p. 73 1 p.

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

      Open Access
      16 Scopus citations

    • Common polygenic variation enhances risk prediction for Alzheimer's disease

      Escott-Price, V., Sims, R., Bannister, C., Harold, D., Vronskaya, M., Majounie, E., Badarinarayan, N., Morgan, K., Passmore, P., Holmes, C., Powell, J., Brayne, C., Gill, M., Mead, S., Goate, A., Cruchaga, C., Lambert, J. C., Van Duijn, C., Maier, W. & Ramirez, A. & 7 others, Holmans, P., Jones, L., Hardy, J., Seshadri, S., Schellenberg, G. D., Amouyel, P. & Williams, J., Dec 1 2015, In: Brain. 138, 12, p. 3673-3684 12 p.

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

      Open Access
      300 Scopus citations

    • Convergent genetic and expression data implicate immunity in Alzheimer's disease

      International Genomics of Alzheimer's Disease Consortium (IGAP), Jun 1 2015, In: Alzheimer's and Dementia. 11, 6, p. 658-671 14 p.

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

      Open Access
      161 Scopus citations

    • Cruchaga & Goate reply

      Cruchaga, C. & Goate, A. M., Apr 2 2015, In: Nature. 520, 7545, p. E10

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

      2 Scopus citations

    • Cruchaga & Goate reply

      Cruchaga, C. & Goate, A. M., Apr 2 2015, In: Nature. 520, 7545, p. E5-E6

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

      7 Scopus citations

    • Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses

      Adult Changes in Thought Study Investigators, Religious Orders Study/Memory and Aging Project Investigators & Alzheimer's Disease Genetics Consortium, Dec 1 2015, In: Alzheimer's and Dementia. 11, 12, p. 1439-1451 13 p.

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

      Open Access
      44 Scopus citations

    • Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

      the Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium, May 19 2015, In: Cell Reports. 11, 7, p. 1134-1146 13 p.

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

      Open Access
      82 Scopus citations

    • Rarity of the alzheimer disease-protective APP A673T variant in the United States

      National Institute on Aging-Late-Onset Alzheimer's Disease (NIA-LOAD) Family Study & Alzheimer's Disease Genetics Consortium, Feb 1 2015, In: JAMA Neurology. 72, 2, p. 209-216 8 p.

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

      Open Access
      34 Scopus citations

    • Role of ABCA7 loss-of-function variant in Alzheimers disease: A replication study in European-Americans

      Del-Aguila, J. L., Fernández, M. V., Jimenez, J., Black, K., Ma, S., Deming, Y., Carrell, D., Saef, B., Howells, B., Budde, J. & Cruchaga, C., Dec 10 2015, In: Alzheimer's Research and Therapy. 7, 1, 73.

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

      Open Access
      20 Scopus citations

    • The influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease

      Alzheimer's Disease Neuroimaging Initiative and Dementia Competence Network, Mar 1 2015, In: Neurobiology of Aging. 36, 3, p. 1605.e13-1605.e20

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

      Open Access
      24 Scopus citations

    • TREM2 is associated with increased risk for Alzheimer's disease in African Americans

      Jin, S. C., Carrasquillo, M. M., Benitez, B. A., Skorupa, T., Carrell, D., Patel, D., Lincoln, S., Krishnan, S., Kachadoorian, M., Reitz, C., Mayeux, R., Wingo, T. S., Lah, J. J., Levey, A. I., Murrell, J., Hendrie, H., Foroud, T., Graff-Radford, N. R., Goate, A. M. & Cruchaga, C. & 1 others, Ertekin-Taner, N., Apr 10 2015, In: Molecular neurodegeneration. 10, 1, 19.

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

      Open Access
      121 Scopus citations
    • 2014

      Alzheimer's disease genetics: From the bench to the clinic

      Karch, C. M., Cruchaga, C. & Goate, A. M., Jul 2 2014, In: Neuron. 83, 1, p. 11-26 16 p.

      Research output: Contribution to journal › Review article › peer-review

      Open Access
      366 Scopus citations

    • Alzheimer's therapeutics targeting amyloid beta 1-42 oligomers II: Sigma-2/PGRMC1 receptors mediate Abeta 42 oligomer binding and synaptotoxicity

      Izzo, N. J., Xu, J., Zeng, C., Kirk, M. J., Mozzoni, K., Silky, C., Rehak, C., Yurko, R., Look, G., Rishton, G., Safferstein, H., Cruchaga, C., Goate, A., Cahill, M. A., Arancio, O., Mach, R. H., Craven, R., Head, E., LeVine, H. & Spires-Jones, T. L. & 1 others, Catalano, S. M., Nov 12 2014, In: PloS one. 9, 11, e111899.

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

      Open Access
      172 Scopus citations

    • A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

      Wetzel-Smith, M. K., Hunkapiller, J., Bhangale, T. R., Srinivasan, K., Maloney, J. A., Atwal, J. K., Sa, S. M., Yaylaoglu, M. B., Foreman, O., Ortmann, W., Rathore, N., Hansen, D. V., Tessier-Lavigne, M., Mayeux, R., Pericak-Vance, M., Haines, J., Farrer, L. A., Schellenberg, G. D., Goate, A. & Behrens, T. W. & 3 others, Cruchaga, C., Watts, R. J. & Graham, R. R., Dec 1 2014, In: Nature medicine. 20, 12, p. 1452-1457 6 p.

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

      Open Access
      113 Scopus citations

    • Coding variants in TREM2 increase risk for Alzheimer's disease

      Jin, S. C., Benitez, B. A., Karch, C. M., Cooper, B., Skorupa, T., Carrell, D., Norton, J. B., Hsu, S., Harari, O., Cai, Y., Bertelsen, S., Goate, A. M. & Cruchaga, C., Nov 1 2014, In: Human molecular genetics. 23, 21, p. 5838-5846 9 p.

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

      Open Access
      243 Scopus citations

    • Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: A genome-wide association study

      Alzheimer Disease Genetics Consortium, Nov 1 2014, In: JAMA Neurology. 71, 11, p. 1394-1404 11 p.

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

      Open Access
      158 Scopus citations

    • Frontobasal gray matter loss is associated with the TREM2 p.R47H variant

      Disease Neuroimaging Initiative (ADNI), Dec 1 2014, In: Neurobiology of Aging. 35, 12, p. 2681-2690 10 p.

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

      Open Access
      41 Scopus citations

    • Frontotemporal dementia and its subtypes: A genome-wide association study

      Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks William S., B. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B. & Padovani, A. & 138 others, Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Van der Zee, J., Deschamps, W., Van Langenhove, T., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Le Ber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Jul 2014, In: The Lancet Neurology. 13, 7, p. 686-699 14 p.

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

      Open Access
      283 Scopus citations

    • Genetic Predisposition to Increased Blood Cholesterol and Triglyceride Lipid Levels and Risk of Alzheimer Disease: A Mendelian Randomization Analysis

      Proitsi, P., Lupton, M. K., Velayudhan, L., Newhouse, S., Fogh, I., Tsolaki, M., Daniilidou, M., Pritchard, M., Kloszewska, I., Soininen, H., Mecocci, P., Vellas, B., Williams, J., Harold, D., Sims, R., Gerrish, A., Chapman, J., Escott-Price, V., Abraham, R. & Hollingworth, P. & 74 others, Hamshere, M., Singh Pahwa, J., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A., Williams, K., Lovestone, S., Powell, J. F., Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K., Passmore, P., Craig, D., Mcguinness, B., Johnston, J. A., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Guerreiro, R., Singleton, A., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Heun, R., Schürmann, B., Ramirez, A., Becker, T., Herold, C., Lacour, A., Drichel, D., Van Den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A., 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., Nöthen, M. M., Holmans, P., O'donovan, M., Owen, M. J., Williams, J., Stewart, R. & Sham, P., Sep 1 2014, In: PLoS medicine. 11, 9

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

      Open Access
      66 Scopus citations

    • Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

      Shannon, B., Soto-Ortolaza, A., Rayaprolu, S., Cannon, H. D., Labbé, C., Benitez, B. A., Choi, J., Lynch, T., Boczarska-Jedynak, M., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Van Gerpen, J. A., Uitti, R. J., Springer, W., Cruchaga, C., Wszolek, Z. K. & Ross, O. A., Aug 2014, In: Neurobiology of Aging. 35, 8, p. 1958.e1-1958.e2

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

      Open Access
      22 Scopus citations

    • Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

      Escott-Price, V., Bellenguez, C., Wang, L. S., Choi, S. H., Harold, D., Jones, L., Holmans, P., Gerrish, A., Vedernikov, A., Richards, A., DeStefano, A. L., Lambert, J. C., Ibrahim-Verbaas, C. A., Naj, A. C., Sims, R., Jun, G., Bis, J. C., Beecham, G. W., Grenier-Boley, B. & Russo, G. & 167 others, Thornton-Wells, T. A., Denning, N., Smith, A. V., Chouraki, V., Thomas, C., Arfan Ikram, M., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C. F., Schmidt, H., Kunkle, B., Dunstan, M. L., Vronskaya, M., Johnson, A. D., Ruiz, A., Bihoreau, M. T., Reitz, C., Pasquier, F., Hollingworth, P., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Becker, C. B. T., Gudnason, V., Cruchaga, C., Craig, D., Amin, N., Berr, C., Lopez, O. L., De Jager, P. L., Deramecourt, V., Johnston, J. A., Evans, D., Lovestone, S., Letenneur, L., Hernández, I., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiévet, N., Huentelman, M. J., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuinness, B., Larson, E. B., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., Love, S., Rogaeva, E., Gallacher, J., St George-Hyslop, P., Clarimon, J., Lleo, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Sanchez Garcia, F., Fox, N. C., Hardy, J., Naranjo, M. C. D., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Scarpini, E., Bonuccelli, U., Mancuso, M., Siciliano, G., Moebus, S., Mecocci, P., Del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Frank-García, A., Panza, F., Solfrizzi, V., Caffarra, P., Nacmias, B., Perry, W., Mayhaus, M., Lannfelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alvarez, V., Zou, F., Valladares, O., Younkin, S. G., Coto, E., Hamilton-Nelson, K. L., Gu, W., Razquin, C., Pastor, P., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Holmes, C., De Bruijn, R. F. A. G., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S. K., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltunen, M., Martin, E. R., Schmidt, R., Rujescu, D., Dartigues, J. F., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Psaty, B. M., Haines, J. L., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Van Broeckhoven, C., Farrer, L. A., Van Duijn, C. M., Ramirez, A., Seshadri, S., Schellenberg, G. D., Amouyel, P. & Williams, J., Jun 12 2014, In: PloS one. 9, 6, e94661.

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

      Open Access
      96 Scopus citations

    • Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation

      Kauwe, J. S. K., Bailey, M. H., Ridge, P. G., Perry, R., Wadsworth, M. E., Hoyt, K. L., Staley, L. A., Karch, C. M., Harari, O., Cruchaga, C., Ainscough, B. J., Bales, K., Pickering, E. H., Bertelsen, S., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Oct 1 2014, In: PLoS genetics. 10, 10

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

      Open Access
      102 Scopus citations

    • Identification of rare variants in Alzheimer's disease

      Lord, J., Lu, A. J. & Cruchaga, C., 2014, In: Frontiers in Genetics. 5, OCT, 369.

      Research output: Contribution to journal › Review article › peer-review

      Open Access
      26 Scopus citations

    • Missense variant in TREML2 protects against Alzheimer's disease

      Benitez, B. A., Jin, S. C., Guerreiro, R., Graham, R., Lord, J., Harold, D., Sims, R., Lambert, J. C., Gibbs, J. R., Bras, J., Sassi, C., Harari, O., Bertelsen, S., Lupton, M. K., Powell, J., Bellenguez, C., Brown, K., Medway, C., Haddick, P. C. G. & Van der Brug, M. P. & 22 others, Bhangale, T., Ortmann, W., Behrens, T., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Haines, J. L., Turton, J., Braae, A., Barber, I., Fagan, A. M., Holtzman, D. M., Morris, J. C., Williams, J., Kauwe, J. S. K., Amouyel, P., Morgan, K., Singleton, A., Hardy, J., Goate, A. M. & Cruchaga, C., Jun 2014, In: Neurobiology of Aging. 35, 6, p. 1510.e19-1510.e26

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

      Open Access
      103 Scopus citations

    • 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
      74 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
      389 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
      97 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
      97 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
      20 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
      222 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
      308 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