If you made any changes in Pure these will be visible here soon.
Filter
Article

Search results

  • 2018

    A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

    Haller, G., McCall, K., Jenkitkasemwong, S., Sadler, B., Antunes, L., Nikolov, M., Whittle, J., Upshaw, Z., Shin, J., Baschal, E., Cruchaga, C., Harms, M., Raggio, C., Morcuende, J. A., Giampietro, P., Miller, N. H., Wise, C., Gray, R. S., Solnica-Krezel, L., Knutson, M. & 2 others, Dobbs, M. B. & Gurnett, C. A., Dec 1 2018, In: Nature communications. 9, 1, 4171.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Scopus citations
  • Analysis of shared heritability in common disorders of the brain

    The Brainstorm Consortium, Jun 22 2018, In: Science. 360, 6395, 8757.

    Research output: Contribution to journalArticlepeer-review

    462 Scopus citations
  • An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk

    Rao, S., Ghani, M., Guo, Z., Deming, Y., Wang, K., Sims, R., Mao, C., Yao, Y., Cruchaga, C., Stephan, D. A. & Rogaeva, E., Jun 2018, In: Neurobiology of Aging. 66, p. 178.e1-178.e8

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline

    Alzheimer's Disease Neuroimaging Initiative (ADNI), 2018, In: Journal of Alzheimer's Disease. 62, 2, p. 745-756 12 p.

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations
  • Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

    Pardiñas, A. F., Holmans, P., Pocklington, A. J., Escott-Price, V., Ripke, S., Carrera, N., Legge, S. E., Bishop, S., Cameron, D., Hamshere, M. L., Han, J., Hubbard, L., Lynham, A., Mantripragada, K., Rees, E., MacCabe, J. H., McCarroll, S. A., Baune, B. T., Breen, G., Byrne, E. M. & 128 others, Dannlowski, U., Eley, T. C., Hayward, C., Martin, N. G., McIntosh, A. M., Plomin, R., Porteous, D. J., Wray, N. R., Caballero, A., Geschwind, D. H., Huckins, L. M., Ruderfer, D. M., Santiago, E., Sklar, P., Stahl, E. A., Won, H., Agerbo, E., Als, T. D., Andreassen, O. A., Bækvad-Hansen, M., Mortensen, P. B., Pedersen, C. B., Børglum, A. D., Bybjerg-Grauholm, J., Djurovic, S., Durmishi, N., Pedersen, M. G., Golimbet, V., Grove, J., Hougaard, D. M., Mattheisen, M., Molden, E., Mors, O., Nordentoft, M., Pejovic-Milovancevic, M., Sigurdsson, E., Silagadze, T., Hansen, C. S., Stefansson, K., Stefansson, H., Steinberg, S., Tosato, S., Werge, T., Harold, D., Sims, R., Gerrish, A., Chapman, J., Abraham, R., Hollingworth, P., Pahwa, J., Denning, N., Thomas, C., Taylor, S., Powell, J., Proitsi, P., Lupton, M., Lovestone, S., Passmore, P., Craig, D., McGuinness, B., Johnston, J., Todd, S., Maier, W., Jessen, F., Heun, R., Schurmann, B., Ramirez, A., Becker, T., Herold, C., Lacour, A., Drichel, D., Nothen, M., Goate, A., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., O'Donovan, M., Owen, M., Williams, J., Achilla, E., Barr, C. L., Böttger, T. W., Cohen, D., Curran, S., Dempster, E., Dima, D., Sabes-Figuera, R., Flanagan, R. J., Frangou, S., Frank, J., Gasse, C., Gaughran, F., Giegling, I., Hannon, E., Hartmann, A. M., Heißerer, B., Helthuis, M., Horsdal, H. T., Ingimarsson, O., Jollie, K., Kennedy, J. L., Köhler, O., Konte, B., Lang, M., Lewis, C., MacCaba, J., Malhotra, A. K., McCrone, P., Meier, S. M., Mill, J., Nöthen, M. M., Pedersen, C. B., Rietschel, M., Rujescu, D., Schwalber, A., Sørensen, H. J., Spencer, B., Støvring, H., Strohmaier, J., Sullivan, P., Vassos, E., Verbelen, M., Collier, D. A., Kirov, G., Owen, M. J., O'Donovan, M. C. & Walters, J. T. R., Mar 1 2018, In: Nature Genetics. 50, 3, p. 381-389 9 p.

    Research output: Contribution to journalArticlepeer-review

    325 Scopus citations
  • CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline

    the Dominantly Inherited Alzheimer Network & the Alzheimer's Disease Neuroimaging Initiative, Dec 2018, In: EMBO Molecular Medicine. 10, 12, e9712.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • CXCR4 involvement in neurodegenerative diseases

    International FTD-Genomics Consortium (IFGC), International Parkinson's Disease Genetics Consortium (IPDGC), International Genomics of Alzheimer's Project (IGAP), Dec 1 2018, In: Translational psychiatry. 8, 1, 73.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • Discovery and validation of autosomal dominant Alzheimer's disease mutations

    Hsu, S., Gordon, B. A., Hornbeck, R., Norton, J. B., Levitch, D., Louden, A., Ziegemeier, E., Laforce, R., Chhatwal, J., Day, G. S., McDade, E., Morris, J. C., Fagan, A. M., Benzinger, T. L. S., Goate, A. M., Cruchaga, C., Bateman, R. J. & Karch, C. M., Jul 18 2018, In: Alzheimer's Research and Therapy. 10, 1, 67.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Effect of BDNFVal66Met on disease markers in dominantly inherited Alzheimer's disease

    on behalf of the Dominantly Inherited Alzheimer Network, Sep 2018, In: Annals of neurology. 84, 3, p. 424-435 12 p.

    Research output: Contribution to journalArticlepeer-review

    9 Scopus citations
  • Evaluation of gene-based family-based methods to detect novel genes associated with familial late onset Alzheimer disease

    NIA-LOAD family study group & NCRAD, Apr 4 2018, In: Frontiers in Neuroscience. 12, APR, 209.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

    International Genomics of Alzheimer's Project (IGAP), ARUK Consortium & GERAD/PERADES, CHARGE, ADGC, EADI, Jan 1 2018, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 595-598 4 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure

    the Dominantly Inherited Alzheimer Network (DIAN), Jun 8 2018, In: Genome medicine. 10, 1, 43.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project

    Blue, E. E., Bis, J. C., Dorschner, M. O., Tsuang, D. W., Barral, S. M., Beecham, G., Below, J. E., Bush, W. S., Butkiewicz, M., Cruchaga, C., Destefano, A., Farrer, L. A., Goate, A., Haines, J., Jaworski, J., Jun, G., Kunkle, B., Kuzma, A., Lee, J. J., Lunetta, K. L. & 22 others, Ma, Y., Martin, E., Naj, A., Nato, A. Q., Navas, P., Nguyen, H., Reitz, C., Reyes, D., Salerno, W., Schellenberg, G. D., Seshadri, S., Sohi, H., Thornton, T. A., Valadares, O., Van Duijn, C., Vardarajan, B. N., Wang, L. S., Boerwinkle, E., Dupuis, J., Pericak-Vance, M. A., Mayeux, R. & Wijsman, E. M., May 1 2018, In: Dementia and Geriatric Cognitive Disorders. 45, 1-2, p. 1-17 17 p.

    Research output: Contribution to journalArticlepeer-review

    7 Scopus citations
  • Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

    Maxwell, T. J., Corcoran, C., Del-Aguila, J. L., Budde, J. P., Deming, Y., Cruchaga, C., Goate, A. M. & Kauwe, J. S. K., Aug 28 2018, In: Alzheimer's Research and Therapy. 10, 1, 86.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging

    for the Alzheimer’s Disease Neuroimaging Initiative (ADNI), 2018, (Accepted/In press) In: Molecular Psychiatry.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

    MEGASTROKE Consortium, Dec 1 2018, In: Nature communications. 9, 1, 5141.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    28 Scopus citations
  • Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

    Karch, C. M., Hernández, D., Wang, J. C., Marsh, J., Hewitt, A. W., Hsu, S., Norton, J., Levitch, D., Donahue, T., Sigurdson, W., Ghetti, B., Farlow, M., Chhatwal, J., Berman, S., Cruchaga, C., Morris, J. C., Bateman, R. J., Pébay, A. & Goate, A. M., Jul 25 2018, In: Alzheimer's Research and Therapy. 10, 1, 69.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

    International FTD-Genomics Consortium, Jan 2018, In: PLoS medicine. 15, 1, e1002487.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    43 Scopus citations
  • Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP

    Dominantly Inherited Alzheimer Network (DIAN) & International FTD-Genomics Consortium (IFGC), Dec 1 2018, In: Translational psychiatry. 8, 1, 265.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • Longitudinal brain imaging in preclinical Alzheimer disease: Impact of APOE ϵ4 genotype

    Mishra, S., Blazey, T. M., Holtzman, D. M., Cruchaga, C., Su, Y., Morris, J. C., Benzinger, T. L. S. & Gordon, B. A., Jun 1 2018, In: Brain. 141, 6, p. 1828-1839 12 p.

    Research output: Contribution to journalArticlepeer-review

    24 Scopus citations
  • Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3

    ARUK Consortium, Jun 1 2018, In: Neurobiology of Aging. 66, p. 179.e17-179.e29

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

    Neurology Working Group of the CHARGE Consortium, NINDS Stroke Genetics Network (SiGN), UK Young Lacunar DNA Study, MEGAST ROKE Consortium, AFGen Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, International Genomics of Blood Pressure (iGEN-BP) Consortium, INVENT Consortium, STA RNET BioBank Japan Cooperative Hospital Group, COMPASS Consortium, EPIC-CVD Consortium, EPIC-InterAct Consortium, International Stroke Genetics Consortium (ISGC) & METAST ROKE Consortium, Apr 1 2018, In: Nature Genetics. 50, 4, p. 524-537 14 p.

    Research output: Contribution to journalArticlepeer-review

    220 Scopus citations
  • Pleiotropic effects of variants in dementia genes in Parkinson disease

    Ibanez, L., Dube, U., Davis, A. A., Fernandez, M. V., Budde, J., Cooper, B., Diez-Fairen, M., Ortega-Cubero, S., Pastor, P., Perlmutter, J. S., Cruchaga, C. & Benitez, B. A., Apr 10 2018, In: Frontiers in Neuroscience. 12, APR, 230.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms

    the, Dominantly Inherited Alzheimer Network (DIAN), Disease Neuroimaging Initiative (ADNI) & NIA-LOAD family study, Feb 2018, In: Alzheimer's and Dementia. 14, 2, p. 205-214 10 p.

    Research output: Contribution to journalArticlepeer-review

    32 Scopus citations
  • Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population

    Diez-Fairen, M., Benitez, B. A., Ortega-Cubero, S., Lorenzo-Betancor, O., Cruchaga, C., Lorenzo, E., Samaranch, L., Carcel, M., Obeso, J. A., Rodriguez-Oroz, M. C., Aguilar, M., Coria, F., Pastor, M. A. & Pastor, P., Oct 2018, In: Neurobiology of Aging. 70, p. 325.e1-325.e5

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

    Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 2018, In: The Lancet Neurology. 17, 6, p. 548-558 11 p.

    Research output: Contribution to journalArticlepeer-review

    35 Scopus citations
  • Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

    Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In: JAMA Neurology. 75, 8, p. 989-998 10 p.

    Research output: Contribution to journalArticlepeer-review

    59 Scopus citations
  • Sex-specific genetic predictors of Alzheimer’s disease biomarkers

    Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (ADGC), Dec 1 2018, In: Acta Neuropathologica. 136, 6, p. 857-872 16 p.

    Research output: Contribution to journalArticlepeer-review

    28 Scopus citations
  • Utility of perfusion PET measures to assess neuronal injury in Alzheimer's disease

    Dominantly Inherited Alzheimer Network, Jan 1 2018, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 669-677 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease

    The Alzheimer's Disease Sequencing Project, Apr 2018, In: Annals of Clinical and Translational Neurology. 5, 4, p. 406-417 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • 2017

    A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

    Huang, K. L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., Chouraki, V., Grenier-Boley, B., Bellenguez, C., Deming, Y., McKenzie, A., Raj, T., Renton, A. E., Budde, J., Smith, A., Fitzpatrick, A. & 27 others, Bis, J. C., DeStefano, A., Adams, H. H. H., Ikram, M. A., Van Der Lee, S., Del-Aguila, J. L., Fernandez, M. V., Ibañez, L., Sims, R., Escott-Price, V., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lambert, J. C., Van Duijn, C., Launer, L., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Zhang, B., Borecki, I., Kauwe, J. S. K., Cruchaga, C., Hao, K. & Goate, A. M., Aug 1 2017, In: Nature neuroscience. 20, 8, p. 1052-1061 10 p.

    Research output: Contribution to journalArticlepeer-review

    125 Scopus citations
  • A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains

    Haddick, P. C. G., Larson, J. L., Rathore, N., Bhangale, T. R., Phung, Q. T., Srinivasan, K., Hansen, D. V., Lill, J. R., Pericak-Vance, M. A., Haines, J., Farrer, L. A., Kauwe, J. S., Schellenberg, G. D., Cruchaga, C., Goate, A. M., Behrens, T. W., Watts, R. J., Graham, R. R., Kaminker, J. S. & Van Der Brug, M., 2017, In: Journal of Alzheimer's Disease. 56, 3, p. 1037-1054 18 p.

    Research output: Contribution to journalArticlepeer-review

    14 Scopus citations
  • Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease

    NIA-LOAD family study group & NCRAD, Nov 2017, In: PLoS genetics. 13, 11, e1007045.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    17 Scopus citations
  • ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy

    Alzheimer’s Disease Neuroimaging Initiative, Sep 28 2017, In: Nature. 549, 7673, p. 523-527 5 p.

    Research output: Contribution to journalArticlepeer-review

    292 Scopus citations
  • Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants

    Rehker, J., Rodhe, J., Nesbitt, R. R., Boyle, E. A., Martin, B. K., Lord, J., Karaca, I., Naj, A., Jessen, F., Helisalmi, S., Soininen, H., Hiltunen, M., Ramirez, A., Scherer, M., Farrer, L. A., Haines, J. L., Pericak-Vance, M. A., Raskind, W. H., Cruchaga, C., Schellenberg, G. D. & 2 others, Joseph, B. & Brkanac, Z., Oct 2017, In: PloS one. 12, 10, e0185777.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN

    Fardo, D. W., Katsumata, Y., Kauwe, J. S. K., Deming, Y., Harari, O., Cruchaga, C. & Nelson, P. T., Apr 1 2017, In: Experimental Gerontology. 90, p. 83-89 7 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    The IFGC and IPDGC members, Feb 1 2017, In: Journal of Neurology, Neurosurgery and Psychiatry. 88, 2, p. 152-164 13 p.

    Research output: Contribution to journalArticlepeer-review

    48 Scopus citations
  • Genome-wide, high-content siRNA screening identifies the Alzheimer’s genetic risk factor FERMT2 as a major modulator of APP metabolism

    ADGC, Alzheimer’s Disease Neuroimaging Initiative, Jun 1 2017, In: Acta Neuropathologica. 133, 6, p. 955-966 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 Scopus citations
  • Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers

    Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetic Consortium (ADGC), May 1 2017, In: Acta Neuropathologica. 133, 5, p. 839-856 18 p.

    Research output: Contribution to journalArticlepeer-review

    55 Scopus citations
  • Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

    for the Alzheimer's Disease Neuroimaging Initative, Nov 29 2017, In: Genome medicine. 9, 1, 100.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Scopus citations
  • Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels

    Ibanez, L., Dube, U., Saef, B., Budde, J., Black, K., Medvedeva, A., Del-Aguila, J. L., Davis, A. A., Perlmutter, J. S., Harari, O., Benitez, B. A. & Cruchaga, C., Nov 15 2017, In: BMC Neurology. 17, 1, 198.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • Polygenic risk scores in familial Alzheimer disease

    Tosto, G., Bird, T. D., Tsuang, D., Bennett, D. A., Boeve, B. F., Cruchaga, C., Faber, K., Foroud, T. M., Farlow, M., Goate, A. M., Bertlesen, S., Graff-Radford, N. R., Medrano, M., Lantigua, R., Manly, J., Ottman, R., Rosenberg, R., Schaid, D. J., Schupf, N., Stern, Y. & 2 others, Sweet, R. A. & Mayeux, R., Mar 21 2017, In: Neurology. 88, 12, p. 1180-1186 7 p.

    Research output: Contribution to journalArticlepeer-review

    20 Scopus citations
  • Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

    Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R. & 426 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Longstreth, W. T., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J. C., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M. R., Ferris, S., Foroud, T. M., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., 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., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Sager, M. A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Boerwinkle, E., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Uitterlinden, A. G., Uitterlinden, A. G., Cruchaga, C., Ingelsson, M., Bennett, D. A., Powell, J., Golde, T. E., Graff, C., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B. M., Passmore, P., Younkin, S. G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. F., Amin, N., Goate, A. M., Pericak-Vance, M. A., Holmans, P. A., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In: Nature Genetics. 49, 9, p. 1373-1384 12 p.

    Research output: Contribution to journalArticlepeer-review

    286 Scopus citations
  • Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

    Taskesen, E., Mishra, A., van der Sluis, S., Ferrari, R., Veldink, J. H., van Es, M. A., Smit, A. B., Posthuma, D., Pijnenburg, Y., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L. & 142 others, Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., 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., Van Broeckhoven, C., Cappa, S. F., Leber, 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., 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., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Dec 1 2017, In: Scientific reports. 7, 1, 8899.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • TMEM230 in Parkinson's disease

    Ibanez, L., Dube, U., Budde, J., Black, K., Medvedeva, A., Davis, A. A., Perlmutter, J. S., Benitez, B. A. & Cruchaga, C., Aug 2017, In: Neurobiology of Aging. 56, p. 212.e1-212.e3

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • Transethnic genome-wide scan identifies novel Alzheimer's disease loci

    Alzheimer's Disease Genetics Consortium, Jul 2017, In: Alzheimer's and Dementia. 13, 7, p. 727-738 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    51 Scopus citations
  • 2016

    ABCA7 p.G215S as potential protective factor for Alzheimer's disease

    Sassi, C., Nalls, M. A., Ridge, P. G., Gibbs, J. R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K. S., Medway, C., Clement, N., Lord, J., Turton, J., Bras, J., Almeida, M. R., Passmore, P., Craig, D., Johnston, J., McGuinness, B. & 29 others, Todd, S., Heun, R., Kölsch, H., Kehoe, P. G., Vardy, E. R. L. C., Hooper, N. M., Mann, D. M., Pickering-Brown, S., Brown, K., Lowe, J., Morgan, K., Smith, A. D., Wilcock, G., Warden, D., Holmes, C., Holstege, H., Louwersheimer, E., van der Flier, W. M., Scheltens, P., Van Swieten, J. C., Santana, I., Oliveira, C., Powell, J. F., Kauwe, J. S., Cruchaga, C., Goate, A. M., Singleton, A. B., Guerreiro, R. & Hardy, J., Oct 1 2016, In: Neurobiology of Aging. 46, p. 235.e1-235.e9

    Research output: Contribution to journalArticlepeer-review

    Open Access
    25 Scopus citations
  • A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

    CHD Exome+ Consortium, CARDIOGRAM Exome Consortium & GERAD-EC Consortium, Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Jun 1 2016, In: Science translational medicine. 8, 341, 341ra76.

    Research output: Contribution to journalArticlepeer-review

    51 Scopus citations
  • Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

    Alzheimer's Disease Genetics Consortium (ADGC), Feb 2016, In: PloS one. 11, 2, e0148717.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    40 Scopus citations
  • A novel Alzheimer disease locus located near the gene encoding tau protein

    Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J. C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L. S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L., Ikram, M. A. & 332 others, Fievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T. M., Choi, S. H., Boland, A., Becker, T., Kukull, W. A., Van Der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J. F., Hampel, H., Kamboh, M. I., De Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., Van Duijn, C. M., Schellenberg, G. D., Farrer, L. A., Adams, P. M., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barmada, M. M., Barnes, L. L., Beach, T. G., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., Yesim Demirci, F., Dick, M., Dickson, D. W., Doody, R. S., Duara, R., Ertekin-Taner, N., Faber, K. M., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Glass, J. D., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lin, C. F., 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., Morris, J. C., Mukherjee, S., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Partch, A., Paulson, H. L., Perry, W., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reisch, J. S., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Royall, D. R., Sager, M. A., 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., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Wishnek, S., Woltjer, R. L., Wright, C. B., Wu, C. K., Yu, C. E., Yu, L., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M. J., Kehoe, P. G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Hollingworth, P., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Gu, W., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., 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., Russo, G., Jöckel, K. H., Moebus, S., Klopp, N., Wichmann, H. E., Ma, L., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J. A., McGuinness, B., Todd, S., Rubinsztein, D. C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P. & Ortega-Cubero, S., Jan 1 2016, In: Molecular Psychiatry. 21, 1, p. 108-117 10 p.

    Research output: Contribution to journalArticlepeer-review

    98 Scopus citations