Kimberly Doheny

Associate Professor

1993 …2020

Research activity per year

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Search results

  • 2020

    A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

    International AMD Genomics Consortium (IAMDGC), Dec 1 2020, In: Scientific reports. 10, 1, 1584.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 2019

    Discovery of common and rare genetic risk variants for colorectal cancer

    Huyghe, J. R., Bien, S. A., Harrison, T. A., Kang, H. M., Chen, S., Schmit, S. L., Conti, D. V., Qu, C., Jeon, J., Edlund, C. K., Greenside, P., Wainberg, M., Schumacher, F. R., Smith, J. D., Levine, D. M., Nelson, S. C., Sinnott-Armstrong, N. A., Albanes, D., Alonso, M. H., Anderson, K. & 179 others, Arnau-Collell, C., Arndt, V., Bamia, C., Banbury, B. L., Baron, J. A., Berndt, S. I., Bézieau, S., Bishop, D. T., Boehm, J., Boeing, H., Brenner, H., Brezina, S., Buch, S., Buchanan, D. D., Burnett-Hartman, A., Butterbach, K., Caan, B. J., Campbell, P. T., Carlson, C. S., Castellví-Bel, S., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chirlaque, M. D., Cho, S. H., Connolly, C. M., Cross, A. J., Cuk, K., Curtis, K. R., de la Chapelle, A., Doheny, K. F., Duggan, D., Easton, D. F., Elias, S. G., Elliott, F., English, D. R., Feskens, E. J. M., Figueiredo, J. C., Fischer, R., FitzGerald, L. M., Forman, D., Gala, M., Gallinger, S., Gauderman, W. J., Giles, G. G., Gillanders, E., Gong, J., Goodman, P. J., Grady, W. M., Grove, J. S., Gsur, A., Gunter, M. J., Haile, R. W., Hampe, J., Hampel, H., Harlid, S., Hayes, R. B., Hofer, P., Hoffmeister, M., Hopper, J. L., Hsu, W. L., Huang, W. Y., Hudson, T. J., Hunter, D. J., Ibañez-Sanz, G., Idos, G. E., Ingersoll, R., Jackson, R. D., Jacobs, E. J., Jenkins, M. A., Joshi, A. D., Joshu, C. E., Keku, T. O., Key, T. J., Kim, H. R., Kobayashi, E., Kolonel, L. N., Kooperberg, C., Kühn, T., Küry, S., Kweon, S. S., Larsson, S. C., Laurie, C. A., Le Marchand, L., Leal, S. M., Lee, S. C., Lejbkowicz, F., Lemire, M., Li, C. I., Li, L., Lieb, W., Lin, Y., Lindblom, A., Lindor, N. M., Ling, H., Louie, T. L., Männistö, S., Markowitz, S. D., Martín, V., Masala, G., McNeil, C. E., Melas, M., Milne, R. L., Moreno, L., Murphy, N., Myte, R., Naccarati, A., Newcomb, P. A., Offit, K., Ogino, S., Onland-Moret, N. C., Pardini, B., Parfrey, P. S., Pearlman, R., Perduca, V., Pharoah, P. D. P., Pinchev, M., Platz, E. A., Prentice, R. L., Pugh, E., Raskin, L., Rennert, G., Rennert, H. S., Riboli, E., Rodríguez-Barranco, M., Romm, J., Sakoda, L. C., Schafmayer, C., Schoen, R. E., Seminara, D., Shah, M., Shelford, T., Shin, M. H., Shulman, K., Sieri, S., Slattery, M. L., Southey, M. C., Stadler, Z. K., Stegmaier, C., Su, Y. R., Tangen, C. M., Thibodeau, S. N., Thomas, D. C., Thomas, S. S., Toland, A. E., Trichopoulou, A., Ulrich, C. M., Van Den Berg, D. J., van Duijnhoven, F. J. B., Van Guelpen, B., van Kranen, H., Vijai, J., Visvanathan, K., Vodicka, P., Vodickova, L., Vymetalkova, V., Weigl, K., Weinstein, S. J., White, E., Win, A. K., Wolf, C. R., Wolk, A., Woods, M. O., Wu, A. H., Zaidi, S. H., Zanke, B. W., Zhang, Q., Zheng, W., Scacheri, P. C., Potter, J. D., Bassik, M. C., Kundaje, A., Casey, G., Moreno, V., Abecasis, G. R., Nickerson, D. A., Gruber, S. B., Hsu, L. & Peters, U., Jan 1 2019, In: Nature genetics. 51, 1, p. 76-87 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Genetic analyses of diverse populations improves discovery for complex traits

    Wojcik, G. L., Graff, M., Nishimura, K. K., Tao, R., Haessler, J., Gignoux, C. R., Highland, H. M., Patel, Y. M., Sorokin, E. P., Avery, C. L., Belbin, G. M., Bien, S. A., Cheng, I., Cullina, S., Hodonsky, C. J., Hu, Y., Huckins, L. M., Jeff, J., Justice, A. E., Kocarnik, J. M. & 66 others, Lim, U., Lin, B. M., Lu, Y., Nelson, S. C., Park, S. S. L., Poisner, H., Preuss, M. H., Richard, M. A., Schurmann, C., Setiawan, V. W., Sockell, A., Vahi, K., Verbanck, M., Vishnu, A., Walker, R. W., Young, K. L., Zubair, N., Acuña-Alonso, V., Ambite, J. L., Barnes, K. C., Boerwinkle, E., Bottinger, E. P., Bustamante, C. D., Caberto, C., Canizales-Quinteros, S., Conomos, M. P., Deelman, E., Do, R., Doheny, K., Fernández-Rhodes, L., Fornage, M., Hailu, B., Heiss, G., Henn, B. M., Hindorff, L. A., Jackson, R. D., Laurie, C. A., Laurie, C. C., Li, Y., Lin, D. Y., Moreno-Estrada, A., Nadkarni, G., Norman, P. J., Pooler, L. C., Reiner, A. P., Romm, J., Sabatti, C., Sandoval, K., Sheng, X., Stahl, E. A., Stram, D. O., Thornton, T. A., Wassel, C. L., Wilkens, L. R., Winkler, C. A., Yoneyama, S., Buyske, S., Haiman, C. A., Kooperberg, C., Le Marchand, L., Loos, R. J. F., Matise, T. C., North, K. E., Peters, U., Kenny, E. E. & Carlson, C. S., Jun 27 2019, In: Nature. 570, 7762, p. 514-518 5 p.

    Research output: Contribution to journalArticlepeer-review

  • Insights into genetics, human biology and disease gleaned from family based genomic studies

    Centers for Mendelian Genomics, Apr 1 2019, In: Genetics in Medicine. 21, 4, p. 798-812 15 p.

    Research output: Contribution to journalReview articlepeer-review

  • 2018

    A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

    Wu, L., Shi, W., Long, J., Guo, X., Michailidou, K., Beesley, J., Bolla, M. K., Shu, X. O., Lu, Y., Cai, Q., Al-Ejeh, F., Rozali, E., Wang, Q., Dennis, J., Li, B., Zeng, C., Feng, H., Gusev, A., Barfield, R. T., Andrulis, I. L. & 190 others, Anton-Culver, H., Arndt, V., Aronson, K. J., Auer, P. L., Barrdahl, M., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brenner, H., Brinton, L., Broberg, P., Brucker, S. Y., Burwinkel, B., Caldés, T., Canzian, F., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chen, X., Cheng, T. Y. D., Christiansen, H., Clarke, C. L., Collée, M., Cornelissen, S., Couch, F. J., Cox, D., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Devilee, P., Doheny, K. F., Dörk, T., Dos-Santos-Silva, I., Dumont, M., Dwek, M., Eccles, D. M., Eilber, U., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., Gapstur, S. M., García-Closas, M., Gaudet, M. M., Ghoussaini, M., Giles, G. G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Guénel, P., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hallberg, E., Hamann, U., Harrington, P., Hein, A., Hicks, B., Hillemanns, P., Hollestelle, A., Hoover, R. N., Hopper, J. L., Huang, G., Humphreys, K., Hunter, D. J., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, K., Jones, M. E., Jung, A., Kaaks, R., Kerin, M. J., Khusnutdinova, E., Kosma, V. M., Kristensen, V. N., Lambrechts, D., Le Marchand, L., Li, J., Lindström, S., Lissowska, J., Lo, W. Y., Loibl, S., Lubinski, J., Luccarini, C., Lux, M. P., MacInnis, R. J., Maishman, T., Kostovska, I. M., Mannermaa, A., Manson, J. A. E., Margolin, S., Mavroudis, D., Meijers-Heijboer, H., Meindl, A., Menon, U., Meyer, J., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, S. F., Nordestgaard, B. G., Olopade, O. I., Olson, J. E., Olsson, H., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prentice, R., Presneau, N., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rennert, G., Rennert, H. S., Rhenius, V., Romero, A., Romm, J., Rudolph, A., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Scott, R. J., Scott, C. G., Seal, S., Shah, M., Shrubsole, M. J., Smeets, A., Southey, M. C., Spinelli, J. J., Stone, J., Surowy, H., Swerdlow, A. J., Tamimi, R. M., Tapper, W., Taylor, J. A., Terry, M. B., Tessier, D. C., Thomas, A., Thöne, K., Tollenaar, R. A. E. M., Torres, D., Truong, T., Untch, M., Vachon, C., Van Den Berg, D., Vincent, D., Waisfisz, Q., Weinberg, C. R., Wendt, C., Whittemore, A. S., Wildiers, H., Willett, W. C., Winqvist, R., Wolk, A., Xia, L., Yang, X. R., Ziogas, A., Ziv, E., Dunning, A. M., Pharoah, P. D. P., Simard, J., Milne, R. L., Edwards, S. L., Kraft, P., Easton, D. F., Chenevix-Trench, G. & Zheng, W., Jul 1 2018, In: Nature genetics. 50, 7, p. 968-978 11 p.

    Research output: Contribution to journalArticlepeer-review

  • Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma

    Wang, Z., Wei, Y., Zhang, R., Su, L., Gogarten, S. M., Liu, G., Brennan, P., Field, J. K., McKay, J. D., Lissowska, J., Swiatkowska, B., Janout, V., Bolca, C., Kontic, M., Scelo, G., Zaridze, D., Laurie, C. C., Doheny, K. F., Pugh, E. K., Marosy, B. A. & 7 others, Hetrick, K. N., Xiao, X., Pikielny, C., Hung, R. J., Amos, C. I., Lin, X. & Christiani, D. C., Jun 2018, In: EBioMedicine. 32, p. 93-101 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 2017

    Association analysis identifies 65 new breast cancer risk loci

    NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators, Nov 2 2017, In: Nature. 551, 7678, p. 92-94 3 p.

    Research output: Contribution to journalArticlepeer-review

  • Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study

    Rasmussen-Torvik, L. J., Almoguera, B., Doheny, K. F., Freimuth, R. R., Gordon, A. S., Hakonarson, H., Hawkins, J. B., Husami, A., Ivacic, L. C., Kullo, I. J., Linderman, M. D., Manolio, T. A., Obeng, A. O., Pellegrino, R., Prows, C. A., Ritchie, M. D., Smith, M. E., Stallings, S. C., Wolf, W. A., Zhang, K. & 1 others, Scott, S. A., Jul 2017, In: Journal of Molecular Diagnostics. 19, 4, p. 561-566 6 p.

    Research output: Contribution to journalArticlepeer-review

  • Generating exome enriched sequencing libraries from formalin-fixed, paraffin-embedded tissue DNA for next-generation sequencing

    Marosy, B. A., Craig, B. D., Hetrick, K. N., Witmer, P. D., Ling, H., Griffith, S. M., Myers, B., Ostrander, E. A., Stanford, J. L., Brody, L. C. & Doheny, K. F., Jan 1 2017, In: Current protocols in human genetics. 2017, p. 18.10.1-18.10.25

    Research output: Contribution to journalArticlepeer-review

  • Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

    International AMD Genomics Consortium (IAMDGC), Mar 27 2017, In: Genome Medicine. 9, 1, 29.

    Research output: Contribution to journalArticlepeer-review

  • Genome-Wide Association Analysis Reveals Genetic Heterogeneity of Sjögren's Syndrome According to Ancestry

    Taylor, K. E., Wong, Q., Levine, D. M., McHugh, C., Laurie, C., Doheny, K., Lam, M. Y., Baer, A. N., Challacombe, S., Lanfranchi, H., Schiødt, M., Srinivasan, M., Umehara, H., Vivino, F. B., Zhao, Y., Shiboski, S. C., Daniels, T. E., Greenspan, J. S., Shiboski, C. H. & Criswell, L. A., Jun 2017, In: Arthritis and Rheumatology. 69, 6, p. 1294-1305 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    AOCS study group, EMBRACE Study, OPAL study group, kConFab Investigators, GEMO Study Collaborators & HEBON Study, May 1 2017, In: Nature genetics. 49, 5, p. 680-691 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M., Adlard, J. & 461 others, Agata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Anne-Lise, B. D., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Brigitte, B. D. P., Brewer, C., Brinton, L., Broberg, P., Angela, B. W., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Esteban, C., Castera, L., Virginie, C. M., Chan, S. B., Jenny, C. C., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., Claes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D. L., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler, D. K., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M. H., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Al-Ejeh, F., Margreet, G. M. A., Bacot, F., Børresen-Dale, A. L., Bressac-De, B. P., Brooks-Wilson, A., Castelao, J. E., Caux-Moncoutier, V., Chang-Claude, J., McLaes, K. B., Dieter, F. J., Gschwantler-Kaulich, D., Lecarpentier, J., Lee, A., Lee, E., Won, J. L., Lee, M. H., Lejbkowicz, F., Lesueur, F., Li, J., Lilyquist, J., Lincoln, A., Lindblom, A., Lissowska, J., Lo, W. Y., Loibl, S., Long, J., Loud, J. T., Lubinski, J., Luccarini, C., Lush, M., MacInnis, R. J., Maishman, T., Makalic, E., Kostovska, I. M., Malone, K. E., Siranoush, M., Manson, J. E., Margolin, S., Martens, J. W., Martinez, M. E., Matsuo, K., Mavroudis, D., Mazoyer, S., McLean, C., Meijers-Heijboer, H., Menéndez, P., Meyer, J., Miao, H., Miller, N., Mitchell, G., Montagna, M., Muir, K., Mulligan, A. M., Mulot, C., Nadesan, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Niederacher, D., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Nussbaum, R. L., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., Ong, K. R., Oosterwijk, J. C., Orr, N., Osorio, A., Pankratz, V. S., Papi, L., Park-Simon, T. W., Paulsson-Karlsson, Y., Lloyd, R., Pedersen, I. S., Peissel, B., Peixoto, A., Perez, J. I., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C. M., Pinchev, M., Plaseska-Karanfilska, D., Poppe, B., Porteous, M. E., Prentice, R., Presneau, N., Prokofieva, D., Pugh, E., Pujana, M. A., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rennert, H. S., Rhenius, V., Rhiem, K., Richardson, A., Rodriguez, G. C., Romero, A., Romm, J., Rookus, M. A., Rudolph, A., Ruediger, T., Saloustros, E., Sanders, J., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seal, S., Senter, L., Seynaeve, C., Shah, M., Sharma, P., Shen, C. Y., Sheng, X., Shimelis, H., Shrubsole, M. J., Shu, X. O., Side, L. E., Singer, C. F., Sohn, C., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stegmaier, C., Stoppa-Lyonnet, D., Sukiennicki, G., Surowy, H., Sutter, C., Swerdlow, A., Szabo, C. I., Tamimi, R. M., Tan, Y. Y., Taylor, J. A., Tejada, M. I., Tengström, M., Teo, S. H., Terry, M. B., Tessier, D. C., Teul, A. E., Thöne, K., Thull, D. L., Tibiletti, M. G., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. M., Tomlinson, I., Tong, L., Torres, D., Tranchant, M., Truong, T., Tucker, K., Tung, N., Tyrer, J., Ulmer, H. U., Vachon, C., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., Van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vega, A., Viel, A., Vijai, J., Vincent, D., Vollenweider, J., Walker, L., Wang, Z., Wang-Gohrke, S., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wesseling, J., Whittemore, A. S., Wijnen, J. T., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yang, X. R., Yannoukakos, D., Zaffaroni, D., Zheng, W., Zhu, B., Ziogas, A., Ziv, E., Zorn, K. K., Gago-Dominguez, M., Mannermaa, A., Olsson, H., Teixeira, M. R., Stone, J., Offit, K., Ottini, L., Park, S. K., Thomassen, M., Hall, P., Meindl, A., Schmutzler, R. K., Droit, A., Bader, G. D., Pharoah, P. D., Couch, F. J., Easton, D. F., Kraft, P., Chenevix-Trench, G., Garciá-Closas, M., Antoniou, A. C. & Simard, J., Dec 1 2017, In: Nature genetics. 49, 12, p. 1767-1778 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

    Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C., Ongaco, C., Romm, J., Doheny, K. F., Mingroni-Netto, R. C., Bertola, D., Kim, C. A., Perez, A. B., Melaragno, M. I., Valle, D., Meloni, V. A. & Bjornsson, H. T., Dec 1 2017, In: European Journal of Human Genetics. 25, 12, p. 1335-1344 10 p.

    Research output: Contribution to journalArticlepeer-review

  • Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration

    International AMD Genomics Consortium (IAMDGC), Feb 2017, In: Genetics. 205, 2, p. 919-924 6 p.

    Research output: Contribution to journalArticlepeer-review

  • The oncoarray consortium: A network for understanding the genetic architecture of common cancers

    Amos, C. I., Dennis, J., Wang, Z., Byun, J., Schumacher, F. R., Gayther, S. A., Casey, G., Hunter, D. J., Sellers, T. A., Gruber, S. B., Dunning, A. M., Michailidou, K., Fachal, L., Doheny, K., Spurdle, A. B., Li, Y., Xiao, X., Romm, J., Pugh, E., Coetzee, G. A. & 73 others, Hazelett, D. J., Bojesen, S. E., Caga-Anan, C., Haiman, C. A., Kamal, A., Luccarini, C., Tessier, D., Vincent, D., Bacot, F., Van Den Berg, D. J., Nelson, S., Demetriades, S., Goldgar, D. E., Couch, F. J., Forman, J. L., Giles, G. G., Conti, D. V., Bickeboller, H., Risch, A., Waldenberger, M., Bruske-Hohlfeld, I., Hicks, B. D., Ling, H., McGuffog, L., Lee, A., Kuchenbaecker, K., Soucy, P., Manz, J., Cunningham, J. M., Butterbach, K., Kote-Jarai, Z., Kraft, P., FitzGerald, L., Lindstrom, S., Adams, M., McKay, J. D., Phelan, C. M., Benlloch, S., Kelemen, L. E., Brennan, P., Riggan, M., O'Mara, T. A., Shen, H., Shi, Y., Thompson, D. J., Goodman, M. T., Nielsen, S. F., Berchuck, A., Laboissiere, S., Schmit, S. L., Shelford, T., Edlund, C. K., Taylor, J. A., Field, J. K., Park, S. K., Offit, K., Thomassen, M., Schmutzler, R., Ottini, L., Hung, R. J., Marchini, J., Olama, A. A. A., Peters, U., Eeles, R. A., Seldin, M. F., Gillanders, E., Seminara, D., Antoniou, A. C., Pharoah, P. D. P., Chenevix-Trench, G., Chanock, S. J., Simard, J. & Easton, D. F., Jan 2017, In: Cancer Epidemiology Biomarkers and Prevention. 26, 1, p. 126-135 10 p.

    Research output: Contribution to journalArticlepeer-review

  • 2016

    A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    Leslie, E. J., Liu, H., Carlson, J. C., Shaffer, J. R., Feingold, E., Wehby, G., Laurie, C. A., Jain, D., Laurie, C. C., Doheny, K. F., McHenry, T., Resick, J., Sanchez, C., Jacobs, J., Emanuele, B., Vieira, A. R., Neiswanger, K., Standley, J., Czeizel, A. E., Deleyiannis, F. & 38 others, Christensen, K., Munger, R. G., Lie, R. T., Wilcox, A., Romitti, P. A., Field, L. L., Padilla, C. D., Cutiongco-De La Paz, E. M. C., Lidral, A. C., Valencia-Ramirez, L. C., Lopez-Palacio, A. M., Valencia, D. R., Arcos-Burgos, M., Castilla, E. E., Mereb, J. C., Poletta, F. A., Orioli, I. M., Carvalho, F. M., Hecht, J. T., Blanton, S. H., Buxó, C. J., Butali, A., Mossey, P. A., Adeyemo, W. L., James, O., Braimah, R. O., Aregbesola, B. S., Eshete, M. A., Deribew, M., Koruyucu, M., Seymen, F., Ma, L., De Salamanca, J. E., Weinberg, S. M., Moreno, L., Cornell, R. A., Murray, J. C. & Marazita, M. L., Apr 7 2016, In: American journal of human genetics. 98, 4, p. 744-754 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

    Braunstein, E. M., Li, R., Sobreira, N., Marosy, B., Hetrick, K., Doheny, K., Gocke, C. D., Valle, D., Brodsky, R. A. & Cheng, L., Nov 1 2016, In: Leukemia. 30, 11, p. 2242-2245 4 p.

    Research output: Contribution to journalLetterpeer-review

  • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

    Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., ELee, K., Hunter, D. J., Sardell, R. J., Mitchell, P. & 142 others, Merriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., Von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., Curcio, C. A., Mohand-Sa'd, S., Sahel, J. A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J. F. O., Igo, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., Van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., Den Hollander, A. I., Fauser, S., WYates, J. R., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Weber, B. H. F., Abecasis, G. R. & Heid, I. M., Feb 1 2016, In: Nature genetics. 48, 2, p. 134-143 10 p.

    Research output: Contribution to journalArticlepeer-review

  • A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p 24.2, 17q23 and 19q13

    Leslie, E. J., Carlson, J. C., Shaffer, J. R., Feingold, E., Wehby, G., Laurie, C. A., Jain, D., Laurie, C. C., Doheny, K. F., McHenry, T., Resick, J., Sanchez, C., Jacobs, J., Emanuele, B., Vieira, A. R., Neiswanger, K., Lidral, A. C., Valencia-Ramirez, L. C., Lopez-Palacio, A. M., Valencia, D. R. & 36 others, Arcos-Burgos, M., Czeizel, A. E., Field, L. L., Padilla, C. D., Maria, E., Cutiongco-de la Paz, C., Deleyiannis, F., Christensen, K., Munger, R. G., Lie, R. T., Wilcox, A., Romitti, P. A., Castilla, E. E., Mereb, J. C., Poletta, F. A., Orioli, I. M., Carvalho, F. M., Hecht, J. T., Blanton, S. H., Buxó, C. J., Butali, A., Mossey, P. A., Adeyemo, W. L., James, O., Braimah, R. O., Aregbesola, B. S., Eshete, M. A., Abate, F., Koruyucu, M., Seymen, F., Ma, L., de Salamanca, J. E., Weinberg, S. M., Moreno, L., Murray, J. C. & Marazita, M. L., 2016, In: Human molecular genetics. 25, 13, p. 2862-2872 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records

    Van Driest, S. L., Wells, Q. S., Stallings, S., Bush, W. S., Gordon, A., Nickerson, D. A., Kim, J. H., Crosslin, D. R., Jarvik, G. P., Carrell, D. S., Ralston, J. D., Larson, E. B., Bielinski, S. J., Olson, J. E., Ye, Z., Kullo, I. J., Abul-Husn, N. S., Scott, S. A., Bottinger, E., Almoguera, B. & 25 others, Connolly, J., Chiavacci, R., Hakonarson, H., Rasmussen-Torvik, L. J., Pan, V., Persell, S. D., Smith, M., Chisholm, R. L., Kitchner, T. E., He, M. M., Brilliant, M. H., Wallace, J. R., Doheny, K. F., Shoemaker, M. B., Li, R., Manolio, T. A., Callis, T. E., Macaya, D., Williams, M. S., Carey, D., Kapplinger, J. D., Ackerman, M. J., Ritchie, M. D., Denny, J. C. & Roden, D. M., Jan 5 2016, In: JAMA - Journal of the American Medical Association. 315, 1, p. 47-57 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network

    Bush, W. S., Crosslin, D. R., Owusu-Obeng, A., Wallace, J., Almoguera, B., Basford, M. A., Bielinski, S. J., Carrell, D. S., Connolly, J. J., Crawford, D., Doheny, K. F., Gallego, C. J., Gordon, A. S., Keating, B., Kirby, J., Kitchner, T., Manzi, S., Mejia, A. R., Pan, V., Perry, C. L. & 31 others, Peterson, J. F., Prows, C. A., Ralston, J., Scott, S. A., Scrol, A., Smith, M., Stallings, S. C., Veldhuizen, T., Wolf, W., Volpi, S., Wiley, K., Li, R., Manolio, T., Bottinger, E., Brilliant, M. H., Carey, D., Chisholm, R. L., Chute, C. G., Haines, J. L., Hakonarson, H., Harley, J. B., Holm, I. A., Kullo, I. J., Jarvik, G. P., Larson, E. B., McCarty, C. A., Williams, M. S., Denny, J. C., Rasmussen-Torvik, L. J., Roden, D. M. & Ritchie, M. D., Aug 1 2016, In: Clinical pharmacology and therapeutics. p. 160-169 10 p.

    Research output: Contribution to journalArticlepeer-review

  • Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2

    Cheng, Y. C., Stanne, T. M., Giese, A. K., Ho, W. K., Traylor, M., Amouyel, P., Holliday, E. G., Malik, R., Xu, H., Kittner, S. J., Cole, J. W., O'Connell, J. R., Danesh, J., Rasheed, A., Zhao, W., Engelter, S., Grond-Ginsbach, C., Kamatani, Y., Lathrop, M., Leys, D. & 43 others, Thijs, V., Metso, T. M., Tatlisumak, T., Pezzini, A., Parati, E. A., Norrving, B., Bevan, S., Rothwell, P. M., Sudlow, C., Slowik, A., Lindgren, A., Walters, M. R., Jannes, J., Shen, J., Crosslin, D., Doheny, K., Laurie, C. C., Kanse, S. M., Bis, J. C., Fornage, M., Mosley, T. H., Hopewell, J. C., Strauch, K., Müller-Nurasyid, M., Gieger, C., Waldenberger, M., Peters, A., Meisinger, C., Ikram, M. A., Longstreth, W. T., Meschia, J. F., Seshadri, S., Sharma, P., Worrall, B., Jern, C., Levi, C., Dichgans, M., Boncoraglio, G. B., Markus, H. S., Debette, S., Rolfs, A., Saleheen, D. & Mitchell, B. D., Feb 1 2016, In: Stroke. 47, 2, p. 307-316 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans

    Olfson, E., Saccone, N. L., Johnson, E. O., Chen, L. S., Culverhouse, R., Doheny, K., Foltz, S. M., Fox, L., Gogarten, S. M., Hartz, S., Hetrick, K., Laurie, C. C., Marosy, B., Amin, N., Arnett, D., Barr, R. G., Bartz, T. M., Bertelsen, S., Borecki, I. B., Brown, M. R. & 33 others, Chasman, D. I., Van Duijn, C. M., Feitosa, M. F., Fox, E. R., Franceschini, N., Franco, O. H., Grove, M. L., Guo, X., Hofman, A., Kardia, S. L. R., Morrison, A. C., Musani, S. K., Psaty, B. M., Rao, D. C., Reiner, A. P., Rice, K., Ridker, P. M., Rose, L. M., Schick, U. M., Schwander, K., Uitterlinden, A. G., Vojinovic, D., Wang, J. C., Ware, E. B., Wilson, G., Yao, J., Zhao, W., Breslau, N., Hatsukami, D., Stitzel, J. A., Rice, J., Goate, A. & Bierut, L. J., May 1 2016, In: Molecular psychiatry. 21, 5, p. 601-607 7 p.

    Research output: Contribution to journalArticlepeer-review

  • Whole-exome sequencing in familial Parkinson disease

    Farlow, J. L., Robak, L. A., Hetrick, K., Bowling, K., Boerwinkle, E., Coban-Akdemir, Z. H., Gambin, T., Gibbs, R. A., Gu, S., Jain, P., Jankovic, J., Jhangiani, S., Kaw, K., Lai, D., Lin, H., Ling, H., Liu, Y., Lupski, J. R., Muzny, D., Porter, P. & 6 others, Pugh, E., White, J., Doheny, K., Myers, R. M., Shulman, J. M. & Foroud, T., Jan 2016, In: JAMA Neurology. 73, 1, p. 68-75 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 2015

    Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

    Jurgens, J., Ling, H., Hetrick, K., Pugh, E., Schiettecatte, F., Doheny, K., Hamosh, A., Avramopoulos, D., Valle, D. & Sobreira, N., Oct 1 2015, In: Genetics in Medicine. 17, 10, p. 782-788 7 p.

    Research output: Contribution to journalArticlepeer-review

  • Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network

    Hall, M. A., Verma, S. S., Wallace, J., Lucas, A., Berg, R. L., Connolly, J., Crawford, D. C., Crosslin, D. R., de Andrade, M., Doheny, K. F., Haines, J. L., Harley, J. B., Jarvik, G. P., Kitchner, T., Kuivaniemi, H., Larson, E. B., Carrell, D. S., Tromp, G., Vrabec, T. R., Pendergrass, S. A. & 2 others, Mccarty, C. A. & Ritchie, M. D., Jul 1 2015, In: Genetic epidemiology. 39, 5, p. 376-384 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Characterization of large structural genetic mosaicism in human autosomes

    Machiela, M. J., Zhou, W., Sampson, J. N., Dean, M. C., Jacobs, K. B., Black, A., Brinton, L. A., Chang, I. S., Chen, C., Chen, C., Chen, K., Cook, L. S., Crous Bou, M., De Vivo, I., Doherty, J., Friedenreich, C. M., Gaudet, M. M., Haiman, C. A., Hankinson, S. E., Hartge, P. & 179 others, Henderson, B. E., Hong, Y. C., Hosgood, H. D., Hsiung, C. A., Hu, W., Hunter, D. J., Jessop, L., Kim, H. N., Kim, Y. H., Kim, Y. T., Klein, R., Kraft, P., Lan, Q., Lin, D., Liu, J., Le Marchand, L., Liang, X., Lissowska, J., Lu, L., Magliocco, A. M., Matsuo, K., Olson, S. H., Orlow, I., Park, J. Y., Pooler, L., Prescott, J., Rastogi, R., Risch, H. A., Schumacher, F., Seow, A., Setiawan, V. W., Shen, H., Sheng, X., Shin, M. H., Shu, X. O., Vanden Berg, D., Wang, J. C., Wentzensen, N., Wong, M. P., Wu, C., Wu, T., Wu, Y. L., Xia, L., Yang, H. P., Yang, P. C., Zheng, W., Zhou, B., Abnet, C. C., Albanes, D., Aldrich, M. C., Amos, C., Amundadottir, L. T., Berndt, S. I., Blot, W. J., Bock, C. H., Bracci, P. M., Burdett, L., Buring, J. E., Butler, M. A., Carreón, T., Chatterjee, N., Chung, C. C., Cook, M. B., Cullen, M., Davis, F. G., Ding, T., Duell, E. J., Epstein, C. G., Fan, J. H., Figueroa, J. D., Fraumeni, J. F., Freedman, N. D., Fuchs, C. S., Gao, Y. T., Gapstur, S. M., Patiño-Garcia, A., Garcia-Closas, M., Gaziano, J. M., Giles, G. G., Gillanders, E. M., Giovannucci, E. L., Goldin, L., Goldstein, A. M., Greene, M. H., Hallmans, G., Harris, C. C., Henriksson, R., Holly, E. A., Hoover, R. N., Hu, N., Hutchinson, A., Jenab, M., Johansen, C., Khaw, K. T., Koh, W. P., Kolonel, L. N., Kooperberg, C., Krogh, V., Kurtz, R. C., Lacroix, A., Landgren, A., Landi, M. T., Li, D., Liao, L. M., Malats, N., McGlynn, K. A., McNeill, L. H., McWilliams, R. R., Melin, B. S., Mirabello, L., Peplonska, B., Peters, U., Petersen, G. M., Prokunina-Olsson, L., Purdue, M., Qiao, Y. L., Rabe, K. G., Rajaraman, P., Real, F. X., Riboli, E., Rodríguez-Santiago, B., Rothman, N., Ruder, A. M., Savage, S. A., Schwartz, A. G., Schwartz, K. L., Sesso, H. D., Severi, G., Silverman, D. T., Spitz, M. R., Stevens, V. L., Stolzenberg-Solomon, R., Stram, D., Tang, Z. Z., Taylor, P. R., Teras, L. R., Tobias, G. S., Viswanathan, K., Wacholder, S., Wang, Z., Weinstein, S. J., Wheeler, W., White, E., Wiencke, J. K., Wolpin, B. M., Wu, X., Wunder, J. S., Yu, K., Zanetti, K. A., Zeleniuch-Jacquotte, A., Ziegler, R. G., De Andrade, M., Barnes, K. C., Beaty, T. H., Bierut, L. J., Desch, K. C., Doheny, K. F., Feenstra, B., Ginsburg, D., Heit, J. A., Kang, J. H., Laurie, C. A., Li, J. Z., Lowe, W. L., Marazita, M. L., Melbye, M., Mirel, D. B., Murray, J. C., Nelson, S. C., Pasquale, L. R., Rice, K., Wiggs, J. L., Wise, A., Tucker, M., Pérez-Jurado, L. A., Laurie, C. C., Caporaso, N. E., Yeager, M. & Chanock, S. J., Mar 5 2015, In: American journal of human genetics. 96, 3, p. 487-497 11 p.

    Research output: Contribution to journalArticlepeer-review

  • Erratum: Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: A genome-wide association study (PLoS ONE (2015) 10:3( e0118149) 10.1371/journal.pone.0118149)

    Johnson, E. O., Hancock, D. B., Gaddis, N. C., Levy, J. L., Page, G., Novak, S. P., Glasheen, C., Saccone, N. L., Rice, J. P., Moreau, M. P., Doheny, K. F., Romm, J. M., Brooks, A. I. & Kral, A. H., May 29 2015, In: PloS one. 10, 5, e0129671.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
  • Genetic variation in the HLA region is associated with susceptibility to herpes zoster

    Crosslin, D. R., Carrell, D. S., Burt, A., Kim, D. S., Underwood, J. G., Hanna, D. S., Comstock, B. A., Baldwin, E., De Andrade, M., Kullo, I. J., Tromp, G., Kuivaniemi, H., Borthwick, K. M., McCarty, C. A., Peissig, P. L., Doheny, K. F., Pugh, E., Kho, A., Pacheco, J., Hayes, M. G. & 17 others, Ritchie, M. D., Verma, S. S., Armstrong, G., Stallings, S., Denny, J. C., Carroll, R. J., Crawford, D. C., Crane, P. K., Mukherjee, S., Bottinger, E., Li, R., Keating, B., Mirel, D. B., Carlson, C. S., Harley, J. B., Larson, E. B. & Jarvik, G. P., Jan 24 2015, In: Genes and immunity. 16, 1, p. 1-7 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

    Farlow, J. L., Lin, H., Sauerbeck, L., Lai, D., Koller, D. L., Pugh, E., Hetrick, K., Ling, H., Kleinloog, R., Van Der Vlies, P., Deelen, P., Swertz, M. A., Verweij, B. H., Regli, L., Rinkel, G. J. E., Ruigrok, Y. M., Doheny, K., Liu, Y., Foroud, T., Broderick, J. & 59 others, Woo, D., Kissela, B., Kleindorfer, D., Schneider, A., Zuccarello, M., Ringer, A., Deka, R., Brown, R. D., Huston, J., Mesissner, I., Wiebers, D., Qureshi, A. I., Rasmussen, P. A., Connolly, E. S., Sacco, R. L., Malkaff, M., Payner, T. D., Ferguson, G. G., Aldrich, E. F., Rouleau, G., Anderson, C. S., Mee, E. W., Hankey, G. J., Knuckey, N., Reilly, P. L., Laidlaw, J. D., D'Urso, P., Rosenfeld, J. V., Morgan, M. K., Dorsch, N., Besser, M., Batjer, H. H., Richard, M. T., Kassam, A., Steinberg, G. K., Johnston, S. C., Ko, N. U., Giannotta, S. L., Kassell, N. F., Worrall, B. B., Lui, K. C., Dumont, A., Tirschell, D. L., Kaufmann, A. M., Fisher, W. S., Aziz, K. M. A., Day, A. L., Du, R., Ogilvy, C., Lewis, S. B., Murphy, K. P., Radvany, M., Gandhi, D., Lisabeth, L., Pandey, A., Morgenstern, L., Derdeyn, C., Langefeld, C. & Bailey-Wilson, J., Mar 24 2015, In: PloS one. 10, 3, e0121104.

    Research output: Contribution to journalArticlepeer-review

  • Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: A genome-wide association study

    Johnson, E. O., Hancock, D. B., Gaddis, N. C., Levy, J. L., Page, G., Novak, S. P., Glasheen, C., Saccone, N. L., Rice, J. P., Moreau, M. P., Doheny, K. F., Romm, J. M., Brooks, A. I., Aouizerat, B. E., Bierut, L. J. & Kral, A. H., Mar 18 2015, In: PloS one. 10, 3, e0118149.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network

    Crosslin, D. R., Robertson, P. D., Carrell, D. S., Gordon, A. S., Hanna, D. S., Burt, A., Fullerton, S. M., Scrol, A., Ralston, J., Leppig, K., Hartzler, A., Baldwin, E., Andrade, M. D., Kullo, I. J., Tromp, G., Doheny, K. F., Ritchie, M. D., Crane, P. K., Nickerson, D. A., Larson, E. B. & 1 others, Jarvik, G. P., Jul 3 2015, In: Genome Medicine. 7, 1, 67.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., Coban Akdemir, Z. H., Doheny, K., Scott, A. F., Avramopoulos, D., Chakravarti, A., Hoover-Fong, J., Mathews, D., Witmer, P. D., Ling, H., Hetrick, K. & 22 others, Watkins, L., Patterson, K. E., Reinier, F., Blue, E., Muzny, D., Kircher, M., Bilguvar, K., López-Giráldez, F., Sutton, V. R., Tabor, H. K., Leal, S. M., Gunel, M., Mane, S., Gibbs, R. A., Boerwinkle, E., Hamosh, A., Shendure, J., Lupski, J. R., Lifton, R. P., Valle, D., Nickerson, D. A. & Bamshad, M. J., Aug 6 2015, In: American journal of human genetics. 97, 2, p. 199-215 17 p., 1908.

    Research output: Contribution to journalReview articlepeer-review

  • Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

    Gripp, K. W., Robbins, K. M., Sobreira, N. L., Witmer, P. D., Bird, L. M., Avela, K., Makitie, O., Alves, D., Hogue, J. S., Zackai, E. H., Doheny, K. F., Stabley, D. L. & Sol-Church, K., Feb 1 2015, In: American Journal of Medical Genetics, Part A. 167, 2, p. 271-281 11 p.

    Research output: Contribution to journalArticlepeer-review

  • 2014

    Correction to Genome-Wide Meta-Analysis of Homocysteine and Methionine Metabolism Identifies Five One Carbon Metabolism Loci and a Novel Association of ALDH1L1 with Ischemic Stroke (PLoS Genet, (2014), 10, 7 (e1004571), 10.1371/journal.pgen.1004571)

    Williams, S. R., Yang, Q., Chen, F., Liu, X., Keene, K. L., Jacques, P., Chen, W. M., Connelly, J. J., Lillard, T. S., Weinstein, G., Hsu, F. C., Beiser, A., Wang, L., Bookman, E., Doheny, K. F., Wolf, P. A., Zilka, M., Selhub, J., Nelson, S., Gogarten, S. M. & 3 others, Worrall, B. B., Seshadri, S. & Sale, M. M., Jul 2014, In: PLoS genetics. 10, 7, e1004571.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
  • Design and anticipated outcomes of the eMERGE-PGx project: A multicenter pilot for preemptive pharmacogenomics in electronic health record systems

    Rasmussen-Torvik, L. J., Stallings, S. C., Gordon, A. S., Almoguera, B., Basford, M. A., Bielinski, S. J., Brautbar, A., Brilliant, M. H., Carrell, D. S., Connolly, J. J., Crosslin, D. R., Doheny, K. F., Gallego, C. J., Gottesman, O., Kim, D. S., Leppig, K. A., Li, R., Lin, S., Manzi, S., Mejia, A. R. & 33 others, Pacheco, J. A., Pan, V., Pathak, J., Perry, C. L., Peterson, J. F., Prows, C. A., Ralston, J., Rasmussen, L. V., Ritchie, M. D., Sadhasivam, S., Scott, S. A., Smith, M., Vega, A., Vinks, A. A., Volpi, S., Wolf, W. A., Bottinger, E., Chisholm, R. L., Chute, C. G., Haines, J. L., Harley, J. B., Keating, B., Holm, I. A., Kullo, I. J., Jarvik, G. P., Larson, E. B., Manolio, T., McCarty, C. A., Nickerson, D. A., Scherer, S. E., Williams, M. S., Roden, D. M. & Denny, J. C., Oct 1 2014, In: Clinical pharmacology and therapeutics. 96, 4, p. 482-489 8 p.

    Research output: Contribution to journalArticlepeer-review

  • Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21

    Middlebrooks, C. D., Mukhopadhyay, N., Tinker, S. W., Allen, E. G., Bean, L. J. H., Begum, F., Chowdhury, R., Cheung, V., Doheny, K., Adams, M., Feingold, E. & Sherman, S. L., Jan 2014, In: Human molecular genetics. 23, 2, p. 408-417 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genetic associations with plasma B12, B6, and folate levels in an ischemic stroke population from the vitamin intervention for stroke prevention (VISP) trial

    on behalf of the GARNET Collaborative Research Group, Aug 6 2014, In: Frontiers in Public Health. 2, AUG, 112.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genome-Wide Meta-Analysis of Homocysteine and Methionine Metabolism Identifies Five One Carbon Metabolism Loci and a Novel Association of ALDH1L1 with Ischemic Stroke

    Williams, S. R., Yang, Q., Chen, F., Liu, X., Keene, K. L., Jacques, P., Chen, W. M., Weinstein, G., Hsu, F. C., Beiser, A., Wang, L., Bookman, E., Doheny, K. F., Wolf, P. A., Zilka, M., Selhub, J., Nelson, S., Gogarten, S. M., Worrall, B. B., Seshadri, S. & 1 others, Sale, M. M., Mar 2014, In: PLoS genetics. 10, 3, e1004214.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Identification of an HMGB3 frameshift mutation in a family with an x-linked colobomatous microphthalmia syndrome using whole-genome and x-exome sequencing

    Scott, A. F., Mohr, D. W., Kasch, L. M., Barton, J. A., Pittiglio, R., Ingersoll, R., Craig, B., Marosy, B. A., Doheny, K. F., Bromley, W. C., Roderick, T. H., Chassaing, N., Calvas, P., Prabhu, S. S. & Jabs, E. W., Oct 1 2014, In: JAMA ophthalmology. 132, 10, p. 1215-1220 6 p.

    Research output: Contribution to journalArticlepeer-review

  • Mutations in Alström protein impair terminal differentiation of cardiomyocytes

    Shenje, L. T., Andersen, P., Halushka, M. K., Lui, C., Fernandez, L., Collin, G. B., Amat-Alarcon, N., Meschino, W., Cutz, E., Chang, K., Yonescu, R., Batista, D. A. S., Chen, Y., Chelko, S., Crosson, J. E., Scheel, J., Vricella, L., Craig, B. D., Marosy, B. A., Mohr, D. W. & 8 others, Hetrick, K. N., Romm, J. M., Scott, A. F., Valle, D., Naggert, J. K., Kwon, C., Doheny, K. F. & Judge, D. P., Mar 4 2014, In: Nature communications. 5, 3416.

    Research output: Contribution to journalArticlepeer-review

  • Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

    Hoover-Fong, J., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A., Kim, O. H., Cho, T. J., Cho, S. Y., Kim, S. J., Jin, D. K., Kitoh, H., Park, W. Y., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D. & Pauli, R. M., Jan 2 2014, In: American journal of human genetics. 94, 1, p. 105-112 8 p.

    Research output: Contribution to journalArticlepeer-review

  • Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families

    Minillo, R. M., Sobreira, N., De Fatima De Faria Soares, M., Jurgens, J., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D., Brunoni, D. & Perez, A. B. A., Dec 25 2014, In: Molecular Syndromology. 5, 6, p. 268-275 8 p.

    Research output: Contribution to journalArticlepeer-review

  • Using previously genotyped controls in genome-wide association studies (GWAS): Application to the Stroke Genetics Network (SiGN)

    Mitchell, B. D., Fornage, M., McArdle, P. F., Cheng, Y. C., Pulit, S. L., Wong, Q., Dave, T., Williams, S. R., Corriveau, R., Gwinn, K., Doheny, K., Laurie, C. C., Rich, S. S. & de Bakker, P. I. W., 2014, In: Frontiers in Genetics. 5, APR, Article 95.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Whole Exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

    Bureau, A., Parker, M. M., Ruczinski, I., Taub, M. A., Marazita, M. L., Murray, J. C., Mangold, E., Noethen, M. M., Ludwig, K. U., Hetmanski, J. B., Bailey-Wilson, J. E., Cropp, C. D., Li, Q., Szymczak, S., Albacha-Hejazi, H., Alqosayer, K., Leigh Field, L., Wu-Chou, Y. H., Doheny, K. F., Ling, H. & 2 others, Scott, A. F. & Beaty, T. H., Jul 2014, In: Genetics. 197, 3, p. 1039-1044 6 p.

    Research output: Contribution to journalArticlepeer-review

  • 2013

    Erratum: Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies (Diabetes (2013) 62 (3282-3291))

    Hayes, M. G., Urbanek, M., Hivert, M. F., Armstrong, L. L., Morrison, J., Guo, C., Lowe, L. P., Scheftner, D. A., Pluzhnikov, A., Levine, D. M., McHugh, C. P., Ackerman, C. M., Bouchard, L., Brisson, D., Layden, B. T., Mirel, D., Doheny, K. F., Leya, M. V., Lown-Hecht, R. N., Dyer, A. R. & 4 others, Metzger, B. E., Reddy, T. E., Cox, N. J. & Lowe, W. L., Oct 2013, In: Diabetes. 62, 10, p. 3641 1 p.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
  • Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

    Huyghe, J. R., Jackson, A. U., Fogarty, M. P., Buchkovich, M. L., Stančáková, A., Stringham, H. M., Sim, X., Yang, L., Fuchsberger, C., Cederberg, H., Chines, P. S., Teslovich, T. M., Romm, J. M., Ling, H., McMullen, I., Ingersoll, R., Pugh, E. W., Doheny, K. F., Neale, B. M., Daly, M. J. & 9 others, Kuusisto, J., Scott, L. J., Kang, H. M., Collins, F. S., Abecasis, G. R., Watanabe, R. M., Boehnke, M., Laakso, M. & Mohlke, K. L., Feb 2013, In: Nature genetics. 45, 2, p. 197-201 5 p.

    Research output: Contribution to journalArticlepeer-review

  • Genetic variation associated with circulating monocyte count in the eMERGE Network

    Crosslin, D. R., McDavid, A., Weston, N., Zheng, X., Hart, E., de Andrade, M., Kullo, I. J., McCarty, C. A., Doheny, K. F., Pugh, E., Kho, A., Hayes, M. G., Ritchie, M. D., Saip, A., Crawford, D. C., Crane, P. K., Newton, K., Carrell, D. S., Gallego, C. J., Nalls, M. A. & 44 others, Li, R., Mirel, D. B., Crenshaw, A., Couper, D. J., Tanaka, T., van Rooij, F. J. A., Chen, M. H., Smith, A. V., Zakai, N. A., Yango, Q., Garcia, M., Liu, Y., Lumley, T., Folsom, A. R., Reiner, A. P., Felix, J. F., Dehghan, A., Wilson, J. G., Bis, J. C., Fox, C. S., Glazer, N. L., Cupples, L. A., Coresh, J., Eiriksdottir, G., Gudnason, V., Bandinelli, S., Frayling, T. M., Chakravarti, A., van Duijn, C. M., Melzer, D., Levy, D., Boerwinkle, E., Singleton, A. B., Hernandez, D. G., Longo, D. L., Witteman, J. C. M., Psaty, B. M., Ferrucci, L., Harris, T. B., O'Donnell, C. J., Ganesh, S. K., Larson, E. B., Carlson, C. S. & Jarvik, G. P., May 2013, In: Human molecular genetics. 22, 10, p. 2119-2127 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD

    Hansel, N. N., Ruczinski, I., Rafaels, N., Sin, D. D., Daley, D., Malinina, A., Huang, L., Sandford, A., Murray, T., Kim, Y., Vergara, C., Heckbert, S. R., Psaty, B. M., Li, G., Elliott, W. M., Aminuddin, F., Dupuis, J., O'Connor, G. T., Doheny, K., Scott, A. F. & 20 others, Boezen, H. M., Postma, D. S., Smolonska, J., Zanen, P., Mohamed Hoesein, F. A., De Koning, H. J., Crystal, R. G., Tanaka, T., Ferrucci, L., Silverman, E., Wan, E., Vestbo, J., Lomas, D. A., Connett, J., Wise, R. A., Neptune, E. R., Mathias, R. A., Paré, P. D., Beaty, T. H. & Barnes, K. C., Jan 2013, In: Human genetics. 132, 1, p. 79-90 12 p.

    Research output: Contribution to journalArticlepeer-review