Kim Doheny

2023

Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)

Fernandez-Rozadilla, C., Timofeeva, M., Chen, Z., Law, P., Thomas, M., Schmit, S., Díez-Obrero, V., Hsu, L., Fernandez-Tajes, J., Palles, C., Sherwood, K., Briggs, S., Svinti, V., Donnelly, K., Farrington, S., Blackmur, J., Vaughan-Shaw, P., Shu, X. O., Long, J., Cai, Q., & 190 othersGuo, X., Lu, Y., Broderick, P., Studd, J., Huyghe, J., Harrison, T., Conti, D., Dampier, C., Devall, M., Schumacher, F., Melas, M., Rennert, G., Obón-Santacana, M., Martín-Sánchez, V., Moratalla-Navarro, F., Oh, J. H., Kim, J., Jee, S. H., Jung, K. J., Kweon, S. S., Shin, M. H., Shin, A., Ahn, Y. O., Kim, D. H., Oze, I., Wen, W., Matsuo, K., Matsuda, K., Tanikawa, C., Ren, Z., Gao, Y. T., Jia, W. H., Hopper, J., Jenkins, M., Win, A. K., Pai, R., Figueiredo, J., Haile, R., Gallinger, S., Woods, M., Newcomb, P., Duggan, D., Cheadle, J., Kaplan, R., Maughan, T., Kerr, R., Kerr, D., Kirac, I., Böhm, J., Mecklin, L. P., Jousilahti, P., Knekt, P., Aaltonen, L., Rissanen, H., Pukkala, E., Eriksson, J., Cajuso, T., Hänninen, U., Kondelin, J., Palin, K., Tanskanen, T., Renkonen-Sinisalo, L., Zanke, B., Männistö, S., Albanes, D., Weinstein, S., Ruiz-Narvaez, E., Palmer, J., Buchanan, D., Platz, E., Visvanathan, K., Ulrich, C., Siegel, E., Brezina, S., Gsur, A., Campbell, P., Chang-Claude, J., Hoffmeister, M., Brenner, H., Slattery, M., Potter, J., Tsilidis, K., Schulze, M., Gunter, M., Murphy, N., Castells, A., Castellví-Bel, S., Moreira, L., Arndt, V., Shcherbina, A., Stern, M., Pardamean, B., Bishop, T., Giles, G., Southey, M., Idos, G., McDonnell, K., Abu-Ful, Z., Greenson, J., Shulman, K., Lejbkowicz, F., Offit, K., Su, Y. R., Steinfelder, R., Keku, T., van Guelpen, B., Hudson, T., Hampel, H., Pearlman, R., Berndt, S., Hayes, R., Martinez, M. E., Thomas, S., Corley, D., Pharoah, P., Larsson, S., Yen, Y., Lenz, H. J., White, E., Li, L., Doheny, K., Pugh, E., Shelford, T., Chan, A., Cruz-Correa, M., Lindblom, A., Hunter, D., Joshi, A., Schafmayer, C., Scacheri, P., Kundaje, A., Nickerson, D., Schoen, R., Hampe, J., Stadler, Z., Vodicka, P., Vodickova, L., Vymetalkova, V., Papadopoulos, N., Edlund, C., Gauderman, W., Thomas, D., Shibata, D., Toland, A., Markowitz, S., Kim, A., Chanock, S., van Duijnhoven, F., Feskens, E., Sakoda, L., Gago-Dominguez, M., Wolk, A., Naccarati, A., Pardini, B., FitzGerald, L., Lee, S. C., Ogino, S., Bien, S., Kooperberg, C., Li, C., Lin, Y., Prentice, R., Qu, C., Bézieau, S., Tangen, C., Mardis, E., Yamaji, T., Sawada, N., Iwasaki, M., Haiman, C., Le Marchand, L., Wu, A., Qu, C., McNeil, C., Coetzee, G., Hayward, C., Deary, I., Harris, S., Theodoratou, E., Reid, S., Walker, M., Ooi, L. Y., Moreno, V., Casey, G., Gruber, S., Tomlinson, I., Zheng, W., Dunlop, M., Houlston, R. & Peters, U., Mar 2023, In: Nature genetics. 55, 3, p. 519-520 2 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men

Wang, A., Xu, Y., Yu, Y., Nead, K. T., Kim, T. B., Xu, K., Dadaev, T., Saunders, E., Sheng, X., Wan, P., Pooler, L., Xia, L. Y., Chanock, S., Berndt, S. I., Gapstur, S. M., Stevens, V., Albanes, D., Weinstein, S. J., Gnanapragasam, V., Giles, G. G., & 19 othersNguyen-Dumont, T., Milne, R. L., Pomerantz, M. M., Schmidt, J. A., Stopsack, K. H., Mucci, L. A., Catalona, W. J., Hetrick, K. N., Doheny, K. F., MacInnis, R. J., Southey, M. C., Eeles, R. A., Wiklund, F., Kote-Jarai, Z., Smith, A. J., Conti, D. V., Huff, C., Haiman, C. A. & Darst, B. F., Feb 1 2023, In: Human molecular genetics. 32, 3, p. 489-495 7 p.

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

Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Fernandez-Rozadilla, C., Timofeeva, M., Chen, Z., Law, P., Thomas, M., Schmit, S., Díez-Obrero, V., Hsu, L., Fernandez-Tajes, J., Palles, C., Sherwood, K., Briggs, S., Svinti, V., Donnelly, K., Farrington, S., Blackmur, J., Vaughan-Shaw, P., Shu, X. O., Long, J., Cai, Q., & 190 othersGuo, X., Lu, Y., Broderick, P., Studd, J., Huyghe, J., Harrison, T., Conti, D., Dampier, C., Devall, M., Schumacher, F., Melas, M., Rennert, G., Obón-Santacana, M., Martín-Sánchez, V., Moratalla-Navarro, F., Oh, J. H., Kim, J., Jee, S. H., Jung, K. J., Kweon, S. S., Shin, M. H., Shin, A., Ahn, Y. O., Kim, D. H., Oze, I., Wen, W., Matsuo, K., Matsuda, K., Tanikawa, C., Ren, Z., Gao, Y. T., Jia, W. H., Hopper, J., Jenkins, M., Win, A. K., Pai, R., Figueiredo, J., Haile, R., Gallinger, S., Woods, M., Newcomb, P., Duggan, D., Cheadle, J., Kaplan, R., Maughan, T., Kerr, R., Kerr, D., Kirac, I., Böhm, J., Mecklin, L. P., Jousilahti, P., Knekt, P., Aaltonen, L., Rissanen, H., Pukkala, E., Eriksson, J., Cajuso, T., Hänninen, U., Kondelin, J., Palin, K., Tanskanen, T., Renkonen-Sinisalo, L., Zanke, B., Männistö, S., Albanes, D., Weinstein, S., Ruiz-Narvaez, E., Palmer, J., Buchanan, D., Platz, E., Visvanathan, K., Ulrich, C., Siegel, E., Brezina, S., Gsur, A., Campbell, P., Chang-Claude, J., Hoffmeister, M., Brenner, H., Slattery, M., Potter, J., Tsilidis, K., Schulze, M., Gunter, M., Murphy, N., Castells, A., Castellví-Bel, S., Moreira, L., Arndt, V., Shcherbina, A., Stern, M., Pardamean, B., Bishop, T., Giles, G., Southey, M., Idos, G., McDonnell, K., Abu-Ful, Z., Greenson, J., Shulman, K., Lejbkowicz, F., Offit, K., Su, Y. R., Steinfelder, R., Keku, T., van Guelpen, B., Hudson, T., Hampel, H., Pearlman, R., Berndt, S., Hayes, R., Martinez, M. E., Thomas, S., Corley, D., Pharoah, P., Larsson, S., Yen, Y., Lenz, H. J., White, E., Li, L., Doheny, K., Pugh, E., Shelford, T., Chan, A., Cruz-Correa, M., Lindblom, A., Hunter, D., Joshi, A., Schafmayer, C., Scacheri, P., Kundaje, A., Nickerson, D., Schoen, R., Hampe, J., Stadler, Z., Vodicka, P., Vodickova, L., Vymetalkova, V., Papadopoulos, N., Edlund, C., Gauderman, W., Thomas, D., Shibata, D., Toland, A., Markowitz, S., Kim, A., Chanock, S., van Duijnhoven, F., Feskens, E., Sakoda, L., Gago-Dominguez, M., Wolk, A., Naccarati, A., Pardini, B., FitzGerald, L., Lee, S. C., Ogino, S., Bien, S., Kooperberg, C., Li, C., Lin, Y., Prentice, R., Qu, C., Bézieau, S., Tangen, C., Mardis, E., Yamaji, T., Sawada, N., Iwasaki, M., Haiman, C., Le Marchand, L., Wu, A., Qu, C., McNeil, C., Coetzee, G., Hayward, C., Deary, I., Harris, S., Theodoratou, E., Reid, S., Walker, M., Ooi, L. Y., Moreno, V., Casey, G., Gruber, S., Tomlinson, I., Zheng, W., Dunlop, M., Houlston, R. & Peters, U., Jan 2023, In: Nature genetics. 55, 1, p. 89-99 11 p.

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

Open Access

Exome Array Analysis of 9721 Ischemic Stroke Cases from the SiGN Consortium

on behalf of the SiGN Consortium & on behalf of the Trans-Omics for Precision Medicine (TOPMed) Stroke Working Group, Jan 2023, In: Genes. 14, 1, 61.

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

Open Access

Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer

Darst, B. F., Saunders, E., Dadaev, T., Sheng, X., Wan, P., Pooler, L., Xia, L. Y., Chanock, S., Berndt, S. I., Wang, Y., Patel, A. V., Albanes, D., Weinstein, S. J., Gnanapragasam, V., Huff, C., Couch, F. J., Wolk, A., Giles, G. G., Nguyen-Dumont, T., Milne, R. L., & 17 othersPomerantz, M. M., Schmidt, J. A., Travis, R. C., Key, T. J., Stopsack, K. H., Mucci, L. A., Catalona, W. J., Marosy, B., Hetrick, K. N., Doheny, K. F., Macinnis, R. J., Southey, M. C., Eeles, R. A., Wiklund, F., Conti, D. V., Kote-Jarai, Z. & Haiman, C. A., Nov 16 2023, In: JAMA Oncology. 9, 11, p. 1514-1524 11 p.

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

2022

An Overview of Cancer in the First 315,000 All of Us Participants

the All of Us Research Program Investigators, Sep 2022, In: PloS one. 17, 9 September, e0272522.

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

Open Access

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Centers for Mendelian Genomics Consortium, Apr 2022, In: Genetics in Medicine. 24, 4, p. 784-797 14 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer

Fasching, P. A., Liu, D., Scully, S., Ingle, J. N., Lyra, P. C., Rack, B., Hein, A., Ekici, A. B., Reis, A., Schneeweiss, A., Tesch, H., Fehm, T. N., Heinrich, G., Beckmann, M. W., Ruebner, M., Huebner, H., Lambrechts, D., Madden, E., Shen, J., Romm, J., & 12 othersDoheny, K., Jenkins, G. D., Carlson, E. E., Li, L., Fridley, B. L., Cunningham, J. M., Janni, W., Monteiro, A. N. A., Schaid, D. J., Haberle, L., Weinshilboum, R. M. & Wang, L., Aug 1 2022, In: Clinical Cancer Research. 28, 15, p. 3342-3355 14 p.

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

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Georgeson, P., Harrison, T. A., Pope, B. J., Zaidi, S. H., Qu, C., Steinfelder, R. S., Lin, Y., Joo, J. E., Mahmood, K., Clendenning, M., Walker, R., Amitay, E. L., Berndt, S. I., Brenner, H., Campbell, P. T., Cao, Y., Chan, A. T., Chang-Claude, J., Doheny, K. F., Drew, D. A., & 32 othersFigueiredo, J. C., French, A. J., Gallinger, S., Giannakis, M., Giles, G. G., Gsur, A., Gunter, M. J., Hoffmeister, M., Hsu, L., Huang, W. Y., Limburg, P., Manson, J. A. E., Moreno, V., Nassir, R., Nowak, J. A., Obón-Santacana, M., Ogino, S., Phipps, A. I., Potter, J. D., Schoen, R. E., Sun, W., Toland, A. E., Trinh, Q. M., Ugai, T., Macrae, F. A., Rosty, C., Hudson, T. J., Jenkins, M. A., Thibodeau, S. N., Winship, I. M., Peters, U. & Buchanan, D. D., Dec 2022, In: Nature communications. 13, 1, 3254.

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

Open Access

Results and lessons from dual extraction of DNA and RNA from formalin-fixed paraffin-embedded breast tumor tissues for a large Cancer epidemiologic study

Ondracek, R. P., Chen, J., Marosy, B., Szewczyk, S., Medico, L., Mohan, A. S., Nair, P., Pratt, R., Roh, J. M., Khoury, T., Carpten, J., Kushi, L. H., Palmer, J. R., Doheny, K., Davis, W., Higgins, M. J., Yao, S. & Ambrosone, C. B., Dec 2022, In: BMC genomics. 23, 1, 614.

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

Open Access

The All of Us Research Program: Data quality, utility, and diversity

the All of Us Research Program, Aug 12 2022, In: Patterns. 3, 8, 100570.

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

Open Access

The impact of GeneMatcher on international data sharing and collaboration

Hamosh, A., Wohler, E., Martin, R., Griffith, S., Rodrigues, E. D. S., Antonescu, C., Doheny, K. F., Valle, D. & Sobreira, N., Jun 2022, In: Human mutation. 43, 6, p. 668-673 6 p.

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

Open Access

Variant-level matching for diagnosis and discovery: Challenges and opportunities

Rodrigues, E. D. S., Griffith, S., Martin, R., Antonescu, C., Posey, J. E., Coban-Akdemir, Z., Jhangiani, S. N., Doheny, K. F., Lupski, J. R., Valle, D., Bamshad, M. J., Hamosh, A., Sheffer, A., Chong, J. X., Einhorn, Y., Cupak, M. & Sobreira, N., Jun 2022, In: Human mutation. 43, 6, p. 782-790 9 p.

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

Open Access

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

The All of Us Research Program Regulatory Working Group, Dec 2022, In: Genome Medicine. 14, 1, 34.

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

Open Access

2021

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)

Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M. C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M., Boon, E. M. J., & 14 othersSanten, G. W. E., Ruivenkamp, C. A. L., Alders, M., Luperchio, T. R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G. B., Bonasio, R., Doheny, K. F., Stevenson, R. E., Banka, S., Sadikovic, B. & Fahrner, J. A., Dec 2021, In: npj Genomic Medicine. 6, 1, 100.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M. C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M., Boon, E. M. J., & 14 othersSanten, G. W. E., Ruivenkamp, C. A. L., Alders, M., Luperchio, T. R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G. B., Bonasio, R., Doheny, K. F., Stevenson, R. E., Banka, S., Sadikovic, B. & Fahrner, J. A., Dec 2021, In: npj Genomic Medicine. 6, 1, 92.

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

Open Access

Germline Sequencing DNA Repair Genes in 5545 Men with Aggressive and Nonaggressive Prostate Cancer

Darst, B. F., Dadaev, T., Saunders, E., Sheng, X., Wan, P., Pooler, L., Xia, L. Y., Chanock, S., Berndt, S. I., Gapstur, S. M., Stevens, V., Albanes, D., Weinstein, S. J., Gnanapragasam, V., Giles, G. G., Nguyen-Dumont, T., Milne, R. L., Pomerantz, M., Schmidt, J. A., Mucci, L., & 10 othersCatalona, W. J., Hetrick, K. N., Doheny, K. F., MacInnis, R. J., Southey, M. C., Eeles, R. A., Wiklund, F., Kote-Jarai, Z., Conti, D. V. & Haiman, C. A., May 1 2021, In: Journal of the National Cancer Institute. 113, 5, p. 616-625 10 p.

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

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Wohler, E., Martin, R., Griffith, S., Rodrigues, E. D. S., Antonescu, C., Posey, J. E., Coban-Akdemir, Z., Jhangiani, S. N., Doheny, K. F., Lupski, J. R., Valle, D., Hamosh, A. & Sobreira, N., Dec 2021, In: Orphanet journal of rare diseases. 16, 1, 365.

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

Open Access

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 journal › Article › peer-review

Open Access

6 Scopus citations

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 othersArnau-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 journal › Article › peer-review

Open Access

112 Scopus citations

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 othersLim, 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 journal › Article › peer-review

Open Access

137 Scopus citations

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 journal › Review article › peer-review

Open Access

52 Scopus citations

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 othersAnton-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 journal › Article › peer-review

59 Scopus citations

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 othersHetrick, 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 journal › Article › peer-review

Open Access

17 Scopus citations

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 journal › Article › peer-review

423 Scopus citations

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 othersScott, S. A., Jul 2017, In: Journal of Molecular Diagnostics. 19, 4, p. 561-566 6 p.

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

Open Access

9 Scopus citations

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 journal › Article › peer-review

1 Scopus citations

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 journal › Article › peer-review

Open Access

35 Scopus citations

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 journal › Article › peer-review

Open Access

47 Scopus citations

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 journal › Article › peer-review

Open Access

118 Scopus citations

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 othersAgata, 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 journal › Article › peer-review

Open Access

118 Scopus citations

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 journal › Article › peer-review

Open Access

22 Scopus citations

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 journal › Article › peer-review

Open Access

32 Scopus citations

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 othersHazelett, 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 journal › Article › peer-review

Open Access

148 Scopus citations

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 othersChristensen, 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 journal › Article › peer-review

Open Access

72 Scopus citations

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 journal › Letter › peer-review

Open Access

7 Scopus citations

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 othersMerriam, 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.

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536 Scopus citations

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 othersArcos-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.

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94 Scopus citations

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 othersConnolly, 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.

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Open Access

113 Scopus citations

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 othersPeterson, 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 journal › Article › peer-review

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90 Scopus citations

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 othersThijs, 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 journal › Article › peer-review

31 Scopus citations

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 othersChasman, 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 journal › Article › peer-review

Open Access

20 Scopus citations

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 othersPugh, 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 journal › Article › peer-review

Open Access

41 Scopus citations

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 journal › Article › peer-review

Open Access

33 Scopus citations

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 othersMccarty, C. A. & Ritchie, M. D., Jul 1 2015, In: Genetic epidemiology. 39, 5, p. 376-384 9 p.

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

Open Access

14 Scopus citations

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 othersHenderson, 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.

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Open Access

63 Scopus citations

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 journal › Comment/debate › peer-review

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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 othersRitchie, 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 journal › Article › peer-review

Open Access

33 Scopus citations

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 othersWoo, 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.

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Open Access

22 Scopus citations

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.

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17 Scopus citations

Kim Doheny

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