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  • 2013

    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
    307 Scopus citations

  • Integrative pathway analysis of a genome-wide association study of VO 2max response to exercise training

    Ghosh, S., Vivar, J. C., Sarzynski, M. A., Sung, Y. J., Timmons, J. A., Bouchard, C. & Rankinen, T., Nov 1 2013, In: Journal of Applied Physiology. 115, 9, p. 1343-1359 17 p.

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

    Open Access
    48 Scopus citations

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

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

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

    Open Access
    62 Scopus citations

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

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

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

    Open Access
    11 Scopus citations

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

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

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

    Open Access
    3255 Scopus citations

  • Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

    Nicolas, G., Pottier, C., Maltête, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Maréchal, L., Augustin, J., Martinaud, O., Defebvre, L., Krystkowiak, P., Pariente, J., Clanet, M., Labauge, P., Ayrignac, X., Lefaucheur, R., Ber, I. L. & Frébourg, T. & 2 others, Hannequin, D. & Campion, D., Jan 8 2013, In: Neurology. 80, 2, p. 181-187 7 p.

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

    236 Scopus citations

  • Novel progranulin variants do not disrupt progranulin secretion and cleavage

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

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

    Open Access
    6 Scopus citations

  • Parkinson disease is not associated with C9ORF72 repeat expansions

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

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

    Open Access
    37 Scopus citations

  • Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

    Nicolas, G., Pottier, C., Charbonnier, C., Guyant-Maréchal, L., Le Ber, I., Pariente, J., Labauge, P., Ayrignac, X., Defebvre, L., Maltête, D., Martinaud, O., Lefaucheur, R., Guillin, O., Wallon, D., Chaumette, B., Rondepierre, P., Derache, N., Fromager, G., Schaeffer, S. & Krystkowiak, P. & 12 others, Verny, C., Jurici, S., Sauvée, M., Vérin, M., Lebouvier, T., Rouaud, O., Thauvin-Robinet, C., Rousseau, S., Rovelet-Lecrux, A., Frebourg, T., Campion, D. & Hannequin, D., Nov 2013, In: Brain. 136, 11, p. 3395-3407 13 p.

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

    Open Access
    189 Scopus citations

  • The FGF and FGFR gene family and risk of cleft lip with or without cleft palate

    Wang, H., Zhang, T., Wu, T., Hetmanski, J. B., Ruczinski, I., Schwender, H., Liang, K. Y., Murray, T., Daniele Fallin, M., Redett, R. J., Raymond, G. V., Jin, S. C., Chou, Y. H. W., Chen, P. K. T., Yeow, V., Chong, S. S., Cheah, F. S. H., Jee, S. H., Jabs, E. W. & Scott, A. F. & 1 others, Beaty, T. H., Jan 2013, In: Cleft Palate-Craniofacial Journal. 50, 1, p. 96-103 8 p.

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

    Open Access
    36 Scopus citations

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

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

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

    Open Access
    55 Scopus citations

  • The role of SNP-loop diuretic interactions in hypertension across ethnic groups in HyperGEN

    De las Fuentes, L., Sung, Y. J., Schwander, K. L., Kalathiveetil, S., Hunt, S. C., Arnett, D. K. & Rao, D. C., 2013, In: Frontiers in Genetics. 4, DEC, 00304.

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

    Open Access
    14 Scopus citations

  • Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained

    Wu, Y., Waite, L. L., Jackson, A. U., Sheu, W. H. H., Buyske, S., Absher, D., Arnett, D. K., Boerwinkle, E., Bonnycastle, L. L., Carty, C. L., Cheng, I., Cochran, B., Croteau-Chonka, D. C., Dumitrescu, L., Eaton, C. B., Franceschini, N., Guo, X., Henderson, B. E., Hindorff, L. A. & Kim, E. & 57 others, Kinnunen, L., Komulainen, P., Lee, W. J., Le Marchand, L., Lin, Y., Lindström, J., Lingaas-Holmen, O., Mitchell, S. L., Narisu, N., Robinson, J. G., Schumacher, F., Stančáková, A., Sundvall, J., Sung, Y. J., Swift, A. J., Wang, W. C., Wilkens, L., Wilsgaard, T., Young, A. M., Adair, L. S., Ballantyne, C. M., Bůžková, P., Chakravarti, A., Collins, F. S., Duggan, D., Feranil, A. B., Ho, L. T., Hung, Y. J., Hunt, S. C., Hveem, K., Juang, J. M. J., Kesäniemi, A. Y., Kuusisto, J., Laakso, M., Lakka, T. A., Lee, I. T., Leppert, M. F., Matise, T. C., Moilanen, L., Njølstad, I., Peters, U., Quertermous, T., Rauramaa, R., Rotter, J. I., Saramies, J., Tuomilehto, J., Uusitupa, M., Wang, T. D., Boehnke, M., Haiman, C. A., Chen, Y. D. I., Kooperberg, C., Assimes, T. L., Crawford, D. C., Hsiung, C. A., North, K. E. & Mohlke, K. L., 2013, In: PLoS genetics. 9, 3, e1003379.

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

    Open Access
    96 Scopus citations

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

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

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

    Open Access
    128 Scopus citations

  • TREM2 R47H variant as a risk factor for early-onset alzheimer's disease

    Pottier, C., Wallon, D., Rousseau, S., Rovelet-Lecrux, A., Richard, A. C., Rollin-Sillaire, A., Frebourg, T., Campion, D. & Hannequin, D., 2013, In: Journal of Alzheimer's Disease. 35, 1, p. 45-49 5 p.

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

    132 Scopus citations

  • TREM2 variants in Alzheimer's disease

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

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

    Open Access
    2280 Scopus citations

  • X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts

    Patel, P. J., Beaty, T. H., Ruczinski, I., Murray, J. C., Marazita, M. L., Munger, R. G., Hetmanski, J. B., Wu, T., Murray, T., Rose, M., Redett, R. J., Jin, S. C., Lie, R. T., Wu-Chou, Y. H., Wang, H., Ye, X., Yeow, V., Chong, S., Jee, S. H. & Shi, B. & 1 others, Scott, A. F., Apr 2013, In: European Journal of Oral Sciences. 121, 2, p. 63-68 6 p.

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

    Open Access
    9 Scopus citations
  • 2012

    Amyloid-β protein precursor gene expression in Alzheimer's disease and other conditions

    Pottier, C., Wallon, D., Lecrux, A. R., Maltete, D., Bombois, S., Jurici, S., Frebourg, T., Hannequin, D. & Campion, D., 2012, In: Journal of Alzheimer's Disease. 28, 3, p. 561-566 6 p.

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

    20 Scopus citations

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

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

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

    Open Access
    174 Scopus citations

  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

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

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

    Open Access
    283 Scopus citations

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

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

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

    Open Access
    204 Scopus citations

  • Expression of Novel Alzheimer's Disease Risk Genes in Control and Alzheimer's Disease Brains

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

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

    Open Access
    266 Scopus citations

  • Extracellular tau levels are influenced by variability in tau that is associated with tauopathies

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

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

    Open Access
    139 Scopus citations

  • Fine mapping of a QTL on chromosome 13 for submaximal exercise capacity training response: The HERITAGE Family Study

    Rice, T. K., Sarzynski, M. A., Sung, Y. J., Argyropoulos, G., Stütz, A. M., Teran-Garcia, M., Rao, D. C., Bouchard, C. & Rankinen, T., Aug 2012, In: European Journal of Applied Physiology. 112, 8, p. 2969-2978 10 p.

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

    Open Access
    17 Scopus citations

  • Genome-wide meta-analyses of smoking behaviors in African Americans

    David, S. P., Hamidovic, A., Chen, G. K., Bergen, A. W., Wessel, J., Kasberger, J. L., Brown, W. M., Petruzella, S., Thacker, E. L., Kim, Y., Nalls, M. A., Tranah, G. J., Sung, Y. J., Ambrosone, C. B., Arnett, D., Bandera, E. V., Becker, D. M., Becker, L., Berndt, S. I. & Bernstein, L. & 59 others, Blot, W. J., Broeckel, U., Buxbaum, S. G., Caporaso, N., Casey, G., Chanock, S. J., Deming, S. L., Diver, W. R., Eaton, C. B., Evans, D. S., Evans, M. K., Fornage, M., Franceschini, N., Harris, T. B., Henderson, B. E., Hernandez, D. G., Hitsman, B., Hu, J. J., Hunt, S. C., Ingles, S. A., John, E. M., Kittles, R., Kolb, S., Kolonel, L. N., Le Marchand, L., Liu, Y., Lohman, K. K., McKnight, B., Millikan, R. C., Murphy, A., Neslund-Dudas, C., Nyante, S., Press, M., Psaty, B. M., Rao, D. C., Redline, S., Rodriguez-Gil, J. L., Rybicki, B. A., Signorello, L. B., Singleton, A. B., Smoller, J., Snively, B., Spring, B., Stanford, J. L., Strom, S. S., Swan, G. E., Taylor, K. D., Thun, M. J., Wilson, A. F., Witte, J. S., Yamamura, Y., Yanek, L. R., Yu, K., Zheng, W., Ziegler, R. G., Zonderman, A. B., Jorgenson, E., Haiman, C. A. & Furberg, H., May 22 2012, In: Translational psychiatry. 2, e119.

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

    Open Access
    87 Scopus citations

  • Genotype Imputation for African Americans Using Data From HapMap Phase II Versus 1000 Genomes Projects

    Sung, Y. J., Gu, C. C., Tiwari, H. K., Arnett, D. K., Broeckel, U. & Rao, D. C., Jul 2012, In: Genetic Epidemiology. 36, 5, p. 508-516 9 p.

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

    Open Access
    12 Scopus citations

  • Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs

    Rankinen, T., Sung, Y. J., Sarzynski, M. A., Rice, T. K., Rao, D. C. & Bouchard, C., Mar 2012, In: Journal of Applied Physiology. 112, 5, p. 892-897 6 p.

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

    Open Access
    41 Scopus citations

  • High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

    Pottier, C., Hannequin, D., Coutant, S., Rovelet-Lecrux, A., Wallon, D., Rousseau, S., Legallic, S., Paquet, C., Bombois, S., Pariente, J., Thomas-Anterion, C., Michon, A., Croisile, B., Etcharry-Bouyx, F., Berr, C., Dartigues, J. F., Amouyel, P., Dauchel, H., Boutoleau-Bretonnière, C. & Thauvin, C. & 3 others, Frebourg, T., Lambert, J. C. & Campion, D., Sep 2012, In: Molecular Psychiatry. 17, 9, p. 875-879 5 p.

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

    Open Access
    226 Scopus citations

  • Monitoring HIV Viral Load in Resource Limited Settings: Still a Matter of Debate?

    Arnedo, M., Alonso, E., Eisenberg, N., Ibáñez, L., Ferreyra, C., Jaén, A., Flevaud, L., Khamadi, S., Roddy, P., Gatell, J. M. & Dalmau, D., Dec 6 2012, In: PloS one. 7, 12, e47391.

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

    Open Access
    21 Scopus citations

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

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

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

    Open Access
    52 Scopus citations

  • Pathway Analysis of Smoking Quantity in Multiple GWAS Identifies Cholinergic and Sensory Pathways

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

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

    Open Access
    11 Scopus citations

  • Performance of genotype imputations using data from the 1000 Genomes Project

    Sung, Y. J., Wang, L., Rankinen, T., Bouchard, C. & Rao, D. C., Mar 2012, In: Human heredity. 73, 1, p. 18-25 8 p.

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

    Open Access
    32 Scopus citations

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

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

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

    Open Access
    91 Scopus citations

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

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

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

    Open Access
    259 Scopus citations

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

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

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

    Open Access
    67 Scopus citations

  • The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

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

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

    Open Access
    58 Scopus citations

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

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

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

    Open Access
    32 Scopus citations
  • 2011

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

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

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

    Open Access
    97 Scopus citations

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

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

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

    Open Access
    139 Scopus citations

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

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

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

    Open Access
    1641 Scopus citations

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

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

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

    Open Access
    1606 Scopus citations

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

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

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

    30 Scopus citations

  • Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

    Beaty, T. H., Ruczinski, I., Murray, J. C., Marazita, M. L., Munger, R. G., Hetmanski, J. B., Murray, T., Redett, R. J., Fallin, M. D., Liang, K. Y., Wu, T., Patel, P. J., Jin, S. C., Zhang, T. X., Schwender, H., Wu-Chou, Y. H., Chen, P. K., Chong, S. S., Cheah, F. & Yeow, V. & 13 others, Ye, X., Wang, H., Huang, S., Jabs, E. W., Shi, B., Wilcox, A. J., Lie, R. T., Jee, S. H., Christensen, K., Doheny, K. F., Pugh, E. W., Ling, H. & Scott, A. F., Sep 2011, In: Genetic Epidemiology. 35, 6, p. 469-478 10 p.

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

    Open Access
    148 Scopus citations

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

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

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

    Open Access
    92 Scopus citations

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

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

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

    Open Access
    59 Scopus citations

  • Genomic predictors of the maximal O2 uptake response to standardized exercise training programs

    Bouchard, C., Sarzynski, M. A., Rice, T. K., Kraus, W. E., Church, T. S., Sung, Y. J., Rao, D. C. & Rankinen, T., May 2011, In: Journal of Applied Physiology. 110, 5, p. 1160-1170 11 p.

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

    Open Access
    359 Scopus citations

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

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

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

    Open Access
    927 Scopus citations

  • Identification of genetic association of multiple rare variants using collapsing methods

    Sun, Y. V., Sung, Y. J., Tintle, N. & Ziegler, A., 2011, In: Genetic Epidemiology. 35, SUPPL. 1, p. S101-S106

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

    Open Access
    17 Scopus citations

  • Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians

    Kato, N., Takeuchi, F., Tabara, Y., Kelly, T. N., Go, M. J., Sim, X., Tay, W. T., Chen, C. H., Zhang, Y., Yamamoto, K., Katsuya, T., Yokota, M., Kim, Y. J., Ong, R. T. H., Nabika, T., Gu, D., Chang, L. C., Kokubo, Y., Huang, W. & Ohnaka, K. & 29 others, Yamori, Y., Nakashima, E., Jaquish, C. E., Lee, J. Y., Seielstad, M., Isono, M., Hixson, J. E., Chen, Y. T., Miki, T., Zhou, X., Sugiyama, T., Jeon, J. P., Liu, J. J., Takayanagi, R., Kim, S. S., Aung, T., Sung, Y. J., Zhang, X., Wong, T. Y., Han, B. G., Kobayashi, S., Ogihara, T., Zhu, D., Iwai, N., Wu, J. Y., Teo, Y. Y., Tai, E. S., Cho, Y. S. & He, J., Jun 2011, In: Nature Genetics. 43, 6, p. 531-538 8 p.

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

    484 Scopus citations
  • 2010

    A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

    Beaty, T. H., Murray, J. C., Marazita, M. L., Munger, R. G., Ruczinski, I., Hetmanski, J. B., Liang, K. Y., Wu, T., Murray, T., Fallin, M. D., Redett, R. A., Raymond, G., Schwender, H., Jin, S. C., Cooper, M. E., Dunnwald, M., Mansilla, M. A., Leslie, E., Bullard, S. & Lidral, A. C. & 33 others, Moreno, L. M., Menezes, R., Vieira, A. R., Petrin, A., Wilcox, A. J., Lie, R. T., Jabs, E. W., Wu-Chou, Y. H., Chen, P. K., Wang, H., Ye, X., Huang, S., Yeow, V., Chong, S. S., Jee, S. H., Shi, B., Christensen, K., Melbye, M., Doheny, K. F., Pugh, E. W., Ling, H., Castilla, E. E., Czeizel, A. E., Ma, L., Field, L. L., Brody, L., Pangilinan, F., Mills, J. L., Molloy, A. M., Kirke, P. N., Scott, J. M., Arcos-Burgos, M. & Scott, A. F., Jun 2010, In: Nature Genetics. 42, 6, p. 525-529 5 p.

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

    Open Access
    471 Scopus citations