Kimberly Doheny

Associate Professor

1993 …2019
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Research Output 1993 2019

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Article
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., 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 journalArticle

Colorectal Neoplasms
Long Noncoding RNA
Preclinical Drug Evaluations
Genome-Wide Association Study
Haplotypes

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

Centers for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Medical Genetics
Genomics
Rare Diseases
Human Genome
Genes
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., 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 journalArticle

Transcriptome
Breast Neoplasms
Genes
Gene Expression
Atlases

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., Pugh, E., Marosy, B. A. & 7 others, Hetrick, K. N., Xiao, X., Pikielny, C., Hung, R. J., Amos, C. I., Lin, X. & Christiani, D. C., Jun 1 2018, In : EBioMedicine. 32, p. 93-101 9 p.

Research output: Contribution to journalArticle

Open Access
Gene Regulatory Networks
Lung Neoplasms
Genes
Transcriptome
Non-Small Cell Lung Carcinoma
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 journalArticle

Breast Neoplasms
Genes
Single Nucleotide Polymorphism
Genome-Wide Association Study
Genetic Predisposition to Disease

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

Rasmussen-Torvik, L. J., Almoguera, B., Doheny, K., 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 1 2017, In : Journal of Molecular Diagnostics. 19, 4, p. 561-566 6 p.

Research output: Contribution to journalArticle

Pharmacogenetics
Research
Genotype
Alleles

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., Jan 1 2017, In : Current protocols in human genetics. 2017, p. 18.10.1-18.10.25

Research output: Contribution to journalArticle

Exome
Paraffin
Formaldehyde
DNA
Workflow

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 journalArticle

Genetic Pleiotropy
Macular Degeneration
Autoimmune Diseases
Lipid Metabolism Disorders
Genome

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., 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., 2017, (Accepted/In press) In : Arthritis and Rheumatology.

Research output: Contribution to journalArticle

Genetic Heterogeneity
Genome-Wide Association Study
Major Histocompatibility Complex
Lip
Principal Component Analysis

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

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

Research output: Contribution to journalArticle

Mutation
Ovarian epithelial cancer
Regulator Genes
Ovarian Neoplasms
Genes

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., 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., 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 journalArticle

Estrogen Receptors
Breast Neoplasms
Genome-Wide Association Study
Mutation
Disease Susceptibility

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C. M., Ongaco, C., Romm, J., Doheny, K., 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 journalArticle

DNA Methylation
Phenotype
Histones
Histone Code
Genes

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

International AMD Genomics Consortium (IAMDGC), Feb 1 2017, In : Genetics. 205, 2, p. 919-924 6 p.

Research output: Contribution to journalArticle

Macular Degeneration
Haplotypes
Genes
Blindness
Genomics

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 1 2017, In : Cancer Epidemiology Biomarkers and Prevention. 26, 1, p. 126-135 10 p.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Neoplasms
Quality Control
Pharmacogenetics
Genetic Models
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., 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 journalArticle

Open Access
Genome-Wide Association Study
Cleft Palate
Live Birth
Zebrafish
Luciferases

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

Braunstein, E., Li, R., Sobreira, N., Marosy, B., Hetrick, K., Doheny, K., Gocke, C., Valle, D., Brodsky, R. A. & Cheng, L., Jul 15 2016, (Accepted/In press) In : Leukemia.

Research output: Contribution to journalArticle

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. J., 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. A., 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., 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 journalArticle

Genome-Wide Association Study
Macular Degeneration
Genetic Loci
Blindness
Sample Size

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., 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., Jan 1 2016, In : Human molecular genetics. 25, 13, p. 2862-2872 11 p.

Research output: Contribution to journalArticle

Open Access
Cleft Lip
Genome-Wide Association Study
Cleft Palate
Genes
Actin Cytoskeleton

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., 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 journalArticle

Open Access
Electronic Health Records
Cardiac Arrhythmias
International Classification of Diseases
Phenotype
Gene Frequency

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., 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., 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 journalArticle

Electronic Health Records
Genomics
Precision Medicine
Pharmacogenetics
Pharmaceutical Preparations

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 journalArticle

Open Access
Genome-Wide Association Study
Chromosomes
Stroke
Factor VII
Intergenic DNA

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 journalArticle

Tobacco Use Disorder
African Americans
Odds Ratio
Gene Frequency
Meta-Analysis

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 1 2016, In : JAMA Neurology. 73, 1, p. 68-75 8 p.

Research output: Contribution to journalArticle

Open Access
Exome
Parkinson Disease
Genes
Age of Onset
Disease Susceptibility
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 journalArticle

Exome
Incidental Findings
Genomics
Databases
Genes

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., 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 journalArticle

Open Access
Electronic Health Records
Genomics
Cataract
Single Nucleotide Polymorphism
Genes

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. L., Bierut, L. J., Desch, K. C., Doheny, K., 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 journalArticle

Mosaicism
Genome-Wide Association Study
Meta-Analysis
Genome
Population

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., 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 journalArticle

Open Access
Herpes Zoster
Human Herpesvirus 3
Herpes Zoster Vaccine
Endogenous Retroviruses
Nerve Tissue

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 journalArticle

Exome
aneurysm
Inborn Genetic Diseases
Intracranial Aneurysm
genetic disorders

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., 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 journalArticle

Open Access
Genetic Loci
Genome-Wide Association Study
Human immunodeficiency virus 1
HIV-1
pathogenicity

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., 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 journalArticle

Open Access
Electronic Health Records
Genomics
Pharmacogenetics
Genes
Clinical Decision Support Systems

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. E., Mathews, D. J., 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 journalArticle

Phenotype
Genes
Genomics
Research Personnel
Exome

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

Gripp, K. W., Robbins, K. M., Sobreira, N., Witmer, P. D., Bird, L. M., Avela, K., Makitie, O., Alves, D., Hogue, J. S., Zackai, E. H., Doheny, K., 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 journalArticle

Hajdu-Cheney Syndrome
Exons
Meningocele
Mutation
Micrognathism
2014

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., 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., 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. 482-488 7 p.

Research output: Contribution to journalArticle

Electronic Health Records
Pharmacogenetics
Clinical Decision Support Systems
Phenotype
Incidental Findings

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 1 2014, In : Human molecular genetics. 23, 2, p. 408-417 10 p.

Research output: Contribution to journalArticle

Open Access
Chromosomes, Human, Pair 21
Genetic Recombination
Oocytes
Genome
Meiosis

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 journalArticle

Open Access
Folic Acid
Vitamins
Single Nucleotide Polymorphism
Stroke
Vitamin B 6

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., Wolf, P. A., Zilka, M., Selhub, J., Nelson, S., Gogarten, S. M., Worrall, B. B., Seshadri, S. & 1 others, Sale, M. M., Jan 1 2014, In : PLoS genetics. 10, 3, e1004214.

Research output: Contribution to journalArticle

Open Access
homocysteine
meta-analysis
Homocysteine
stroke
Methionine

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., 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 journalArticle

Exome
Frameshift Mutation
Microphthalmos
X Chromosome
Genome

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., Chen, Y., Chelko, S., Crosson, J., 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. & Judge, D. P., Mar 4 2014, In : Nature Communications. 5, 3416.

Research output: Contribution to journalArticle

mutations
Cardiac Myocytes
Cells
proteins
cell division

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

Hoover Fong, J. E., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A. B., 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., 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 journalArticle

Phosphatidylcholines
Mutation
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

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., 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 journalArticle

Osteogenesis Imperfecta
Serpins
Founder Effect
Phenotype
Brazil

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., Jan 1 2014, In : Frontiers in Genetics. 5, APR, Article 95.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Stroke
Electronic Health Records
Nucleic Acid Regulatory Sequences
Regulator Genes

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., Ling, H. & 2 others, Scott, A. F. & Beaty, T. L., 2014, In : Genetics. 197, 3, p. 1039-1044 6 p.

Research output: Contribution to journalArticle

Exome
Nucleotides
Genes
Pedigree
Animal Models
2013

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., Doheny, K., 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 1 2013, In : Nature genetics. 45, 2, p. 197-201 5 p.

Research output: Contribution to journalArticle

Exome
Proinsulin
Genome-Wide Association Study
Insulin
Gene Frequency

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., 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 journalArticle

Monocytes
Genes
Joints
Lysophosphatidic Acid Receptors
Integrin alpha Chains

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

Hansel, 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., Mathias, R., Paré, P. D., Beaty, T. L. & Barnes, K. C., Jan 2013, In : Human Genetics. 132, 1, p. 79-90 12 p.

Research output: Contribution to journalArticle

Chronic Obstructive Pulmonary Disease
Genome
Lung
Single Nucleotide Polymorphism
Chromosomes, Human, Pair 10

Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies

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., Leya, M. V., Lown-Hecht, R. N., Dyer, A. R. & 4 others, Metzger, B. E., Reddy, T. E., Cox, N. J. & Lowe, W. L., Sep 1 2013, In : Diabetes. 62, 9, p. 3282-3291 10 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Mothers
Pregnancy
Glucose
Genes

Imputation-based genomic coverage assessments of current human genotyping arrays

Nelson, S. C., Doheny, K., Pugh, E., Romm, J. M., Ling, H., Laurie, C. A., Browning, S. R., Weir, B. S. & Laurie, C. C., Jan 1 2013, In : G3: Genes, Genomes, Genetics. 3, 9, p. 1795-1807 13 p.

Research output: Contribution to journalArticle

Open Access
Gene Frequency
Genome
Linkage Disequilibrium
Human Genome
Sample Size

Stroke genetics network (SiGN) study design and rationale for a genome-wide association study of ischemic stroke subtypes

Meschia, J. F., Arnett, D. K., Ay, H., Brown, R. D., Benavente, O. R., Cole, J. W., De Bakker, P. I. W., Dichgans, M., Doheny, K., Fornage, M., Grewal, R. P., Gwinn, K., Jern, C., Conde, J. J., Johnson, J. A., Jood, K., Laurie, C. C., Lee, J. M., Lindgren, A., Markus, H. S. & 20 others, Mcardle, P. F., Mcclure, L. A., Mitchell, B. D., Schmidt, R., Rexrode, K. M., Rich, S. S., Rosand, J., Rothwell, P. M., Rundek, T., Sacco, R. L., Sharma, P., Shuldiner, A. R., Slowik, A., Wassertheil-Smoller, S., Sudlow, C., Thijs, V. N. S., Woo, D., Worrall, B. B., Wu, O. & Kittner, S. J., Oct 1 2013, In : Stroke. 44, 10, p. 2694-2702 9 p.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Stroke
Genotype
National Institute of Neurological Disorders and Stroke
Genetic Research

The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study

Urbanek, M., Hayes, M. G., Armstrong, L. L., Morrison, J., Lowe, L. P., Badon, S. E., Scheftner, D., Pluzhnikov, A., Levine, D., Laurie, C. C., McHugh, C., Ackerman, C. M., Mirel, D. B., Doheny, K., Guo, C., Scholtens, D. M., Dyer, A. R., Metzger, B. E., Reddy, T. E., Cox, N. J. & 1 others, Lowe, W. L., Sep 1 2013, In : Human molecular genetics. 22, 17, p. 3583-3596 14 p., ddt168.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Adiposity
Chromosomes
Newborn Infant
Glucose Tolerance Test
2012

Are myocardial infarction-associated single-nucleotide polymorphisms associated with ischemic stroke?

Cheng, Y. C., Anderson, C. D., Bione, S., Keene, K., Maguire, J. M., Nalls, M., Rasheed, A., Zeginigg, M., Attia, J., Baker, R., Barlera, S., Biffi, A., Bookman, E., Brott, T. G., Brown, R. D., Chen, F., Chen, W. M., Ciusani, E., Cole, J. W., Cortellini, L. & 42 others, Danesh, J., Doheny, K., Ferrucci, L., Franzosi, M. G., Frossard, P., Furie, K. L., Golledge, J., Hankey, G. J., Hernandez, D., Holliday, E. G., Hsu, F. C., Jannes, J., Kamal, A., Khan, M. S., Kittner, S. J., Koblar, S. A., Lewis, M., Lincz, L., Lisa, A., Matarin, M., Moscato, P., Mychaleckyj, J. C., Parati, E. A., Parolo, S., Pugh, E., Rost, N. S., Schallert, M., Schmidt, H., Scott, R. J., Sturm, J. W., Yadav, S., Zaidi, M., Boncoraglio, G. B., Levi, C. R., Meschia, J. F., Rosand, J., Sale, M., Saleheen, D., Schmidt, R., Sharma, P., Worrall, B. & Mitchell, B. D., Apr 2012, In : Stroke. 43, 4, p. 980-986 7 p.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Stroke
Myocardial Infarction
Meta-Analysis
Genome-Wide Association Study