Search results

  • 2016

    Identification of plexin A4 as a novel clusterin receptor links two Alzheimer's disease risk genes

    Kang, S. S., Kurti, A., Wojtas, A., Baker, K. E., Liu, C. C., Kanekiyo, T., Deming, Y., Cruchaga, C., Estus, S., Bu, G. & Fryer, J. D., Aug 15 2016, In: Human molecular genetics. 25, 16, p. 3467-3475 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • Influence of coding variability in APP-Aβ metabolism genes in sporadic Alzheimer's disease

    Sassi, C., Ridge, P. G., Nalls, M. A., Gibbs, R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K. S., Medway, C., Lord, J., Turton, J., Morgan, K., Powell, J. F., Kauwe, J. S., Cruchaga, C., Bras, J., Goate, A. M., Singleton, A. B., & 18 othersGuerreiro, R., Hardy, J., 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., Lowe, J., David Smith, A., Wilcock, G., Warden, D. & Holmes, C., Jun 2016, In: PloS one. 11, 6, e0150079.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    26 Scopus citations
  • Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms

    Kober, D. L., Alexander-Brett, J. M., Karch, C. M., Cruchaga, C., Colonna, M., Holtzman, M. J. & Brett, T. J., Dec 20 2016, In: eLife. 5, DECEMBER2016, e20391.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    131 Scopus citations
  • Paving the road for the study of epigenetics in neurodegenerative diseases

    Harari, O. & Cruchaga, C., Oct 1 2016, In: Acta Neuropathologica. 132, 4, p. 483-485 3 p.

    Research output: Contribution to journalEditorial

    Open Access
    5 Scopus citations
  • 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 journalArticlepeer-review

    Open Access
    18 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 journalArticlepeer-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 journalArticlepeer-review

    Open Access
    52 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 othersClarke, 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 journalArticlepeer-review

    Open Access
    52 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 journalArticlepeer-review

    Open Access
    14 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 journalArticlepeer-review

    Open Access
    43 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 othersYounkin, 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 journalArticlepeer-review

    Open Access
    69 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 journalArticlepeer-review

    Open Access
    81 Scopus citations
  • Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke

    Metastroke Consortium, ISGC Consortium and Genestroke Consortium, Dec 2016, In: Thrombosis and haemostasis. 116, 6, p. 1165-1171 7 p., A019.

    Research output: Contribution to journalArticlepeer-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 journalReview articlepeer-review

    29 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 othersLogue, 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 journalArticlepeer-review

    Open Access
    30 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 journalArticlepeer-review

    Open Access
    141 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 journalArticlepeer-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 othersHolmans, 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 journalArticlepeer-review

    Open Access
    274 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 journalArticlepeer-review

    Open Access
    152 Scopus citations
  • Cruchaga & Goate reply

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
    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 journalArticlepeer-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 journalArticlepeer-review

    Open Access
    42 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 journalArticlepeer-review

    Open Access
    75 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 journalArticlepeer-review

    Open Access
    32 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 journalArticlepeer-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 journalArticlepeer-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 othersErtekin-Taner, N., Apr 10 2015, In: Molecular neurodegeneration. 10, 1, 19.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    109 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 journalReview articlepeer-review

    Open Access
    348 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 othersCatalano, S. M., Nov 12 2014, In: PloS one. 9, 11, e111899.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    160 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 othersCruchaga, C., Watts, R. J. & Graham, R. R., Dec 1 2014, In: Nature medicine. 20, 12, p. 1452-1457 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    104 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 journalArticlepeer-review

    Open Access
    220 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 journalArticlepeer-review

    Open Access
    146 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 journalArticlepeer-review

    Open Access
    38 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 othersCruchaga, 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 journalArticlepeer-review

    Open Access
    244 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 othersHamshere, 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 journalArticlepeer-review

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    64 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 journalArticlepeer-review

    Open Access
    21 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 othersThornton-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 journalArticlepeer-review

    Open Access
    92 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 journalArticlepeer-review

    Open Access
    95 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 journalReview articlepeer-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 othersBhangale, 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 journalArticlepeer-review

    Open Access
    101 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 journalArticlepeer-review

    Open Access
    68 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 othersWeale, 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 journalArticlepeer-review

    Open Access
    370 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 journalArticlepeer-review

    Open Access
    88 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 journalArticlepeer-review

    Open Access
    38 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 journalComment/debate

    Open Access
    88 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 journalComment/debate

    Open Access
    19 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 journalArticlepeer-review

    Open Access
    210 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 journalArticlepeer-review

    Open Access
    28 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 journalArticlepeer-review

    Open Access
    89 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 journalArticlepeer-review

    Open Access
    47 Scopus citations