• 48431 Citations
  • 102 Scopus h-Index
1978 …2020

Research output per year

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Research Output

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Dadaev, T., Saunders, E. J., Newcombe, P. J., Anokian, E., Leongamornlert, D. A., Brook, M. N., Cieza-Borrella, C., Mijuskovic, M., Wakerell, S., Olama, A. A. A., Schumacher, F. R., Berndt, S. I., Benlloch, S., Ahmed, M., Goh, C., Sheng, X., Zhang, Z., Muir, K., Govindasami, K., Lophatananon, A. & 290 others, Stevens, V. L., Gapstur, S. M., Carter, B. D., Tangen, C. M., Goodman, P., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Hakansson, N., West, C., Dunning, A. M., Burnet, N., Mucci, L., Giovannucci, E., Andriole, G., Cussenot, O., Cancel-Tassin, G., Koutros, S., Freeman, L. E. B., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B., Kerns, S., Ostrer, H., Lu, Y. J., Zhang, H. W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., Fitzgerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Fachal, L., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H. Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weisher, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S. H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Slavov, C., Mitev, V., Parliament, M., Singhal, S., Claessens, F., Joniau, S., Van Den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., Van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K. T., Cannon-Albright, L., Pandha, H., Michael, A., Kierzek, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Kraft, P., Cook, M., Thwaites, A., Guy, M., Whitmore, I., Morgan, A., Fisher, C., Hazel, S., Livni, N., Spurdle, A., Srinivasan, S., Kedda, M. A., Aitken, J., Gardiner, R., Hayes, V., Butler, L., Taylor, R., Yeadon, T., Eckert, A., Saunders, P., Haynes, A. M., Papargiris, M., Kujala, P., Talala, K., Murtola, T., Taari, K., Dearnaley, D., Barnett, G., Bentzen, S., Elliott, R., Ranu, H., Hicks, B., Vogt, A., Hutchinson, A., Cox, A., Davis, M., Brown, P., George, A., Marsden, G., Lane, A., Lewis, S. J., Berry, C., Kulkarni, G. S., Toi, A., Evans, A., Zlotta, A. R., Van Der Kwast, T. H., Imai, T., Saito, S., Marzec, J., Cao, G., Lin, J., Ling, J., Li, M., Zhao, S. C., Ren, G., Yu, Y., Wu, Y., Wu, J., Zhou, B., Zhang, Y., Li, J., He, W., Guo, J., Pedersen, J., Hopper, J. L., Milne, R., Klim, A., Carballo, A., Lobato-Busto, R., Peleteiro, P., Calvo, P., Aguado, M., Ruiz-Dominguez, J. M., Cecchini, L., Mengual, L., Alcaraz, A., Bustamante, M., Gracia-Lavedan, E., Dierssen-Sotos, T., Gomez-Acebo, I., Pow-Sang, J., Park, H., Zachariah, B., Kluzniak, W., Kolb, S., Klarskov, P., Stegmaier, C., Vogel, W., Herkommer, K., Bohnert, P., Maia, S., Silva, M. P., De Langhe, S., Thierens, H., Tan, M. H., Ong, A. T., Kastelan, Z., Popov, E., Kachakova, D., Mitkova, A., Vlahova, A., Dikov, T., Christova, S., Carracedo, A., Bangma, C., Schroder, F. H., Cenee, S., Tretarre, B., Rebillard, X., Mulot, C., Sanchez, M., Adolfsson, J., Stattin, P., Johansson, J. E., Cavalli-Bjoerkman, C., Karlsson, A., Broms, M., Wu, H., Tillmans, L., Riska, S., Freedman, M., Wiklund, F., Chanock, S., Henderson, B. E., Easton, D. F., Haiman, C. A., Eeles, R. A., Conti, D. V. & Kote-Jarai, Z., Dec 1 2018, In : Nature communications. 9, 1, 2256.

Research output: Contribution to journalArticle

27 Scopus citations

Fine-Mapping the HOXB Region Detects Common Variants Tagging a Rare Coding Allele: Evidence for Synthetic Association in Prostate Cancer

Saunders, E. J., Dadaev, T., Leongamornlert, D. A., Jugurnauth-Little, S., Tymrakiewicz, M., Wiklund, F., Al Olama, A. A., Benlloch, S., Neal, D. E., Hamdy, F. C., Donovan, J. L., Giles, G. G., Severi, G., Gronberg, H., Aly, M., Haiman, C. A., Schumacher, F., Henderson, B. E., Lindstrom, S., Kraft, P. & 46 others, Hunter, D. J., Gapstur, S., Chanock, S., Berndt, S. I., Albanes, D., Andriole, G., Schleutker, J., Weischer, M., Nordestgaard, B. G., Canzian, F., Campa, D., Riboli, E., Key, T. J., Travis, R. C., Ingles, S. A., John, E. M., Hayes, R. B., Pharoah, P., Khaw, K. T., Stanford, J. L., Ostrander, E. A., Signorello, L. B., Thibodeau, S. N., Schaid, D., Maier, C., Kibel, A. S., Cybulski, C., Cannon-Albright, L., Brenner, H., Park, J. Y., Kaneva, R., Batra, J., Clements, J. A., Teixeira, M. R., Xu, J., Mikropoulos, C., Goh, C., Govindasami, K., Guy, M., Wilkinson, R. A., Sawyer, E. J., Morgan, A., Easton, D. F., Muir, K., Eeles, R. A. & Kote-Jarai, Z., Feb 2014, In : PLoS genetics. 10, 2, e1004129.

Research output: Contribution to journalArticle

27 Scopus citations

FIRE: Functional inference of genetic variants that regulate gene expression

Ioannidis, N. M., Davis, J. R., DeGorter, M. K., Larson, N. B., McDonnell, S. K., French, A. J., Battle, A. J., Hastie, T. J., Thibodeau, S. N., Montgomery, S. B., Bustamante, C. D., Sieh, W. & Whittemore, A. S., Dec 15 2017, In : Bioinformatics. 33, 24, p. 3895-3901 7 p.

Research output: Contribution to journalArticle

4 Scopus citations

First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

De Rosa, M., Dourisboure, R. J., Morelli, G., Graziano, A., Gutiérrez, A., Thibodeau, S., Halling, K., Avila, K. C., Duraturo, F., Podesta, E. J., Izzo, P. & Solano, A. R., May 2004, In : Human mutation. 23, 5, p. 523-524 2 p.

Research output: Contribution to journalArticle

25 Scopus citations

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy

Biancalana, V., Toft, M., Le Ber, I., Tison, F., Scherrer, E., Thibodeau, S., Mandel, J. L., Brice, A., Farrer, M. J. & Dürr, A., Jun 2005, In : Archives of neurology. 62, 6, p. 962-966 5 p.

Research output: Contribution to journalArticle

47 Scopus citations

Fragile X syndrome: Linkage analysis in black and white populations

Schwartz, C. E., Phelan, M. C., Brightharp, C., Pancoast, I., Howard-Peebles, P. N., Thibodeau, S., Brown, W. T. & Jenkins, E. C., Jan 1 1988, In : American journal of medical genetics. 30, 1-2, p. 531-542 12 p.

Research output: Contribution to journalArticle

1 Scopus citations

Fragile X syndrome: skin elastin abnormalities.

Waldstein, G., Mierau, G., Ahmad, R., Thibodeau, S. N., Hagerman, R. J. & Caldwell, S., Jan 1 1987, In : Birth defects original article series. 23, 1, p. 103-114 12 p.

Research output: Contribution to journalArticle

12 Scopus citations

Frequency of defective DNA mismatch repair in colorectal cancer among the Alaska Native people

Boardman, L. A., Lanier, A. P., French, A. J., Schowalter, K. V., Burgart, L. J., Koller, K. R., McDonnell, S. K., Schaid, D. J. & Thibodeau, S. N., Nov 1 2007, In : Cancer Epidemiology Biomarkers and Prevention. 16, 11, p. 2344-2350 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases

Rumilla, K., Schowalter, K. V., Lindor, N. M., Thomas, B. C., Mensink, K. A., Gallinger, S., Holter, S., Newcomb, P. A., Potter, J. D., Jenkins, M. A., Hopper, J. L., Long, T. I., Weisenberger, D. J., Haile, R. W., Casey, G., Laird, P. W., Le Marchand, L. & Thibodeau, S. N., Jan 2011, In : Journal of Molecular Diagnostics. 13, 1, p. 93-99 7 p.

Research output: Contribution to journalArticle

60 Scopus citations

Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age

Kakar, S., Burgart, L. J., Thibodeau, S. N., Rabe, K. G., Petersen, G. M., Goldberg, R. M. & Lindor, N. M., Mar 15 2003, In : Cancer. 97, 6, p. 1421-1427 7 p.

Research output: Contribution to journalArticle

76 Scopus citations

Frequency of the ΔPhe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: Results of a collaborative study

Highsmith, W. E., Chong, G. L., Orr, H. T., Perry, T. R., Schaid, D., Farber, R., Wagner, K., Knowles, M. R., Warwick, W. J., Silverman, L. M. & Thibodeau, S. N., 1990, In : Clinical chemistry. 36, 10, p. 1741-1746 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Frequent Loss of Heterozygosity at 7q31.1 in Primary Prostate Cancer Is Associated with Tumor Aggressiveness and Progression

Takahashi, S., Lieber, M. M., Shan, A. L., Ritland, S. R., Delacey, K. A., Bostwick, D. G., Thibodeau, S. N. & Jenkins, R. B., Sep 15 1995, In : Cancer research. 55, 18, p. 4114-4119 6 p.

Research output: Contribution to journalArticle

128 Scopus citations

Frequent truncating mutation of TFAM induces mitochondrial DNA depletion and apoptotic resistance in microsatellite-unstable colorectal cancer

Guo, J., Zheng, L., Liu, W., Wang, X., Wang, Z., Wang, Z., French, A. J., Kang, D., Chen, L., Thibodeau, S. N. & Liu, W., Apr 15 2011, In : Cancer research. 71, 8, p. 2978-2987 10 p.

Research output: Contribution to journalArticle

61 Scopus citations

Functional and clinical significance of variants localized to 8q24 in colon cancer

Cicek, M. S., Slager, S. L., Achenbach, S. J., French, A. J., Blair, H. E., Fink, S. R., Foster, N. R., Kabat, B. F., Halling, K. C., Cunningham, J. M., Cerhan, J. R., Jenkins, R. B., Boardman, L. A., Petersen, G. M., Sargent, D. J., Alberts, S. R., Limburg, P. J. & Thibodeau, S. N., Sep 2009, In : Cancer Epidemiology Biomarkers and Prevention. 18, 9, p. 2492-2500 9 p.

Research output: Contribution to journalArticle

35 Scopus citations

Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array

Saunders, E. J., Dadaev, T., Leongamornlert, D. A., Al Olama, A. A., Benlloch, S., Giles, G. G., Wiklund, F., Grönberg, H., Haiman, C. A., Schleutker, J., Nordestgaard, BØ. G., Travis, R. C., Neal, D., Pasayan, N., Khaw, K. T., Stanford, J. L., Blot, W. J., Thibodeau, S. N., Maier, C., Kibel, A. S. & 13 others, Cybulski, C., Cannon-Albright, L., Brenner, H., Park, J. Y., Kaneva, R., Batra, J., Teixeira, M. R., Pandha, H., Govindasami, K., Muir, K., Easton, D. F., Eeles, R. A. & Kote-Jarai, Z., Apr 12 2016, In : British journal of cancer. 114, 8, p. 945-952 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Gene networks and microRNAs implicated in aggressive prostate cancer

Wang, L., Tang, H., Thayanithy, V., Subramanian, S., Oberg, A. L., Cunningham, J. M., Cerhan, J. R., Steer, C. J. & Thibodeau, S. N., Dec 15 2009, In : Cancer research. 69, 24, p. 9490-9497 8 p.

Research output: Contribution to journalArticle

114 Scopus citations

Gene symbol: HFE Disease: Hereditary hemochromatosis

Kruckeberg, K. E., Sundsbak, J. L., Doescher, D. C. & Thibodeau, S. N., Jan 1 2001, In : Human genetics. 108, 3, 1 p.

Research output: Contribution to journalComment/debate

Genetically characterized positive control cell lines derived from residual clinical blood samples

Bernacki, S. H., Beck, J. C., Stankovic, A. K., Williams, L. O., Amos, J., Snow-Bailey, K., Farkas, D. H., Friez, M. J., Hantash, F. M., Matteson, K. J., Monaghan, K. G., Muralidharan, K., Pratt, V. M., Prior, T. W., Richie, K. L., Levin, B. C., Rohlfs, E. M., Schaefer, F. V., Shrimpton, A. E., Spector, E. B. & 6 others, Stolle, C. A., Strom, C. M., Thibodeau, S. N., Cole, E. C., Goodman, B. K. & Stenzel, T. T., Nov 1 2005, In : Clinical chemistry. 51, 11, p. 2013-2024 12 p.

Research output: Contribution to journalArticle

8 Scopus citations

Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome

Patterson, M. N., Bell, M. V., Bloomfield, J., Flint, T., Dorkins, H., Thibodeau, S. N., Schaid, D., Bren, G., Schwartz, C. E., Wieringa, B., Ropers, H. H., Callen, D. F., Sutherland, G., Froster-Iskenius, U., Vissing, H. & Davies, K. E., May 1989, In : Genomics. 4, 4, p. 570-578 9 p.

Research output: Contribution to journalArticle

19 Scopus citations

Genetic basis of neurologic and neuromuscular diseases

Nagan, N., Klein, C. J., Dawson, D. B., Wick, M. J. & Thibodeau, S. N., Dec 1 2005, Molecular Diagnostics: For the Clinical Laboratorian. Humana Press, p. 267-280 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Genetic heterogeneity in Peutz-Jeghers syndrome

Boardman, L. A., Couch, F. J., Burgart, L. J., Schwartz, D., Berry, R., McDonnell, S. K., Schaid, D. J., Hartmann, L. C., Schroeder, J. J., Stratakis, C. A. & Thibodeau, S. N., 2000, In : Human mutation. 16, 1, p. 23-30 8 p.

Research output: Contribution to journalArticle

101 Scopus citations

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome

Suthers, G. K., Mulley, J. C., Voelckel, M. A., Dahl, N., Vaisanen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., Van Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Gine, R., Carballo, M., Morris, C. P., Hopwood, J. J. & Sutherland, G. R., Mar 27 1991, In : American journal of human genetics. 48, 3, p. 460-467 8 p.

Research output: Contribution to journalArticle

24 Scopus citations

Genetic testing for colon cancer: Joint statement of the American College of Medical Genetics and American Society of Human Genetics

Murphy, P., Petersen, G., Thibodeau, S. & Fishel, R., 2000, In : Genetics in Medicine. 2, 6, p. 362-366 5 p.

Research output: Contribution to journalComment/debate

Open Access
28 Scopus citations

Genetic Testing for Prader-Willi and Angelman Syndromes

Schad, C. R., Jalal, S. M. & Thibodeau, S. N., Jan 1 1995, In : Mayo Clinic proceedings. 70, 12, p. 1195-1196 2 p.

Research output: Contribution to journalArticle

2 Scopus citations

Genetic testing in medullary thyroid carcinoma syndromes: Mutation types and clinical significance

Heshmati, H. M., Gharib, H., Khosla, S., Abu-Lebdeh, H. S., Lindor, N. M. & Thibodeau, S. N., Jan 1 1997, In : Mayo Clinic proceedings. 72, 5, p. 430-436 7 p.

Research output: Contribution to journalArticle

38 Scopus citations

Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II

Ledger, G. A., Khosla, S., Lindor, N. M., Thibodeau, S. N. & Gharib, H., Jan 1995, In : Annals of internal medicine. 122, 2, p. 118-124 7 p.

Research output: Contribution to journalArticle

84 Scopus citations

Genome Linkage Screen for Prostate Cancer Susceptibility Loci: Results from the Mayo Clinic Familial Prostate Cancer Study

Cunningham, J. M., McDonnell, S. K., Marks, A., Hebbring, S., Anderson, S. A., Peterson, B. J., Slager, S., French, A., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., Dec 1 2003, In : Prostate. 57, 4, p. 335-346 12 p.

Research output: Contribution to journalArticle

40 Scopus citations

Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21

The PRACTICAL Consortium & International Consortium for Prostate Cancer Genetics, Aug 1 2016, In : Human genetics. 135, 8, p. 923-938 16 p.

Research output: Contribution to journalArticle

18 Scopus citations

Genome-wide association study of prostate cancer-specific survival

Szulkin, R., Karlsson, R., Whitington, T., Aly, M., Gronberg, H., Eeles, R. A., Easton, D. F., Kote-Jarai, Z., Al Olama, A. A., Benlloch, S., Muir, K., Giles, G. G., Southey, M. C., Fitzgerald, L. M., Henderson, B. E., Schumacher, F. R., Haiman, C. A., Sipeky, C., Tammela, T. J., Nordestgaard, B. G. & 62 others, Key, T. J., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Pharoah, P. D. P., Pashayan, N., Khaw, K. T., Stanford, J. L., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Maier, C., Vogel, W., Luedeke, M., Herkommer, K., Kibel, A. S., Cybulski, C., Lubinski, J., Kluzniak, W., Cannon-Albright, L., Brenner, H., Herrmann, V., Holleczek, B., Park, J. Y., Sellers, T. A., Lim, H. Y., Slavov, C., Kaneva, R. P., Mitev, V. I., Spurdle, A., Teixeira, M. R., Paulo, P., Maia, S., Pandha, H., Michael, A., Kierzek, A., Batra, J., Clements, J. A., Albanes, D., Andriole, G. L., Berndt, S. I., Chanock, S., Gapstur, S. M., Giovannucci, E. L., Hunter, D. J., Kraft, P., Le Marchand, L., Ma, J., Mondul, A. M., Penney, K. L., Stampfer, M. J., Stevens, V. L., Weinstein, S. J., Trichopoulou, A., Bueno-De-mesquita, B. H., Tjønneland, A., Cox, D. G., Maehle, L., Schleutker, J., Lindstrom, S. & Wiklund, F., Nov 2015, In : Cancer Epidemiology Biomarkers and Prevention. 24, 11, p. 1796-1800 5 p.

Research output: Contribution to journalArticle

22 Scopus citations

Genome-Wide Diet-Gene Interaction Analyses for Risk of Colorectal Cancer

Figueiredo, J. C., Hsu, L., Hutter, C. M., Lin, Y., Campbell, P. T., Baron, J. A., Berndt, S. I., Jiao, S., Casey, G., Fortini, B., Chan, A. T., Cotterchio, M., Lemire, M., Gallinger, S., Harrison, T. A., Le Marchand, L., Newcomb, P. A., Slattery, M. L., Caan, B. J., Carlson, C. S. & 31 others, Zanke, B. W., Rosse, S. A., Brenner, H., Giovannucci, E. L., Wu, K., Chang-Claude, J., Chanock, S. J., Curtis, K. R., Duggan, D., Gong, J., Haile, R. W., Hayes, R. B., Hoffmeister, M., Hopper, J. L., Jenkins, M. A., Kolonel, L. N., Qu, C., Rudolph, A., Schoen, R. E., Schumacher, F. R., Seminara, D., Stelling, D. L., Thibodeau, S. N., Thornquist, M., Warnick, G. S., Henderson, B. E., Ulrich, C. M., Gauderman, W. J., Potter, J. D., White, E. & Peters, U., Apr 2014, In : PLoS genetics. 10, 4, e1004228.

Research output: Contribution to journalArticle

58 Scopus citations

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

CCFR and GECCO, Oct 2016, In : PLoS genetics. 12, 10, e1006296.

Research output: Contribution to journalArticle

16 Scopus citations

Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for prostate cancer genetics using novel sumLINK and sumLOD analyses

Christensen, G. B., Baffoe-Bonnie, A. B., George, A., Powell, I., Bailey-Wilson, J. E., Carpten, J. D., Giles, G. G., Hopper, J. L., Severi, G., English, D. R., Foulkes, W. D., Maehle, L., Moller, P., Eeles, R., Easton, D., Badzioch, M. D., Whittemore, A. S., Oakley-Girvan, I., Hsieh, C. L., Dimitrov, L. & 26 others, Xu, J., Stanford, J. L., Johanneson, B., Deutsch, K., McIntosh, L., Ostrander, E. A., Wiley, K. E., Isaacs, S. D., Walsh, P. C., Isaacs, W. B., Thibodeau, S. N., McDonnell, S. K., Hebbring, S., Schaid, D. J., Lange, E. M., Cooney, K. A., Tammela, T. L. J., Schleutker, J., Paiss, T., Maier, C., Grönberg, H., Wiklund, F., Emanuelsson, M., Farnham, J. M., Cannon-Albright, L. A. & Camp, N. J., May 15 2010, In : Prostate. 70, 7, p. 735-744 10 p.

Research output: Contribution to journalArticle

21 Scopus citations

Genome-wide meta-analyses of breast, ovarian, and prostate cancer association studies identify multiple new susceptibility loci shared by at least two cancer types

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70 Scopus citations

Genome-wide transcriptional profiling reveals microRNA-correlated genes and biological processes in human lymphoblastoid cell lines

Wang, L., Oberg, A. L., Asmann, Y. W., Sicotte, H., McDonnell, S. K., Riska, S. M., Liu, W., Steer, C. J., Subramanian, S., Cunningham, J. M., Cerhan, J. R. & Thibodeau, S. N., Jun 11 2009, In : PloS one. 4, 6, e5878.

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63 Scopus citations

Genomic instability in neoplasia

Honchel, R., Halling, K. C. & Thibodeau, S. N., Feb 1995, In : Seminars in Cell Biology. 6, 1, p. 45-52 8 p.

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77 Scopus citations

Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium

Mulligan, L. M., Marsh, D. J., Robinson, B. G., Schuffenecker, I., Zedenius, J., Lips, C. J. M., Gagel, R. F., Takai, S. I., Noll, W. W., Fink, M., Raue, F., Lacroix, A., Thibodeau, S. N., Frilling, A., Ponder, B. A. J. & Eng, C., Jan 1 1995, In : Journal of Internal Medicine. 238, 4, p. 343-346 4 p.

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236 Scopus citations

Genotype prediction in the fragile X syndrome

Hirst, M. C., Nakahori, Y., Knight, S. J. L., Schwartz, C., Thibodeau, S. N., Roche, A., Flint, T. J., Connor, J. M., Fryns, J. P. & Davies, K. E., 1991, In : Journal of medical genetics. 28, 12, p. 824-829 6 p.

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Open Access
25 Scopus citations

Germline miRNA DNA variants and the risk of colorectal cancer by subtype

Lindor, N. M., Larson, M. C., DeRycke, M. S., McDonnell, S. K., Baheti, S., Fogarty, Z. C., Win, A. K., Potter, J. D., Buchanan, D. D., Clendenning, M., Newcomb, P. A., Casey, G., Gallinger, S., Le Marchand, L., Hopper, J. L., Jenkins, M. A., Goode, E. L. & Thibodeau, S. N., Mar 1 2017, In : Genes Chromosomes and Cancer. 56, 3, p. 177-184 8 p.

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3 Scopus citations

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the colon cancer family registry cohort

Rosty, C., Clendenning, M., Walsh, M. D., Eriksen, S. V., Southey, M. C., Winship, I. M., Macrae, F. A., Boussioutas, A., Poplawski, N. K., Parry, S., Arnold, J., Young, J. P., Casey, G., Haile, R. W., Gallinger, S., Le Marchand, L., Newcomb, P. A., Potter, J. D., Derycke, M., Lindor, N. M. & 6 others, Thibodeau, S. N., Baron, J. A., Win, A. K., Hopper, J. L., Jenkins, M. A. & Buchanan, D. D., 2016, In : BMJ open. 6, 2, e010293.

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21 Scopus citations

Germline PKHD1 mutations are protective against colorectal cancer

Ward, C. J., Wu, Y., Johnson, R. A., Woollard, J. R., Bergstralh, E. J., Cicek, M. S., Bakeberg, J., Rossetti, S., Heyer, C. M., Petersen, G. M., Lindor, N. M., Thibodeau, S. N., Harris, P. C., Torres, V. E., Hogan, M. C. & Boardman, L. A., Mar 2011, In : Human genetics. 129, 3, p. 345-349 5 p.

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15 Scopus citations

Germline variation at 8q24 and prostate cancer risk in men of European ancestry

The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Dec 1 2018, In : Nature communications. 9, 1, 4616.

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13 Scopus citations

Gluthatione-S-transferase P1 polymorphism I105V in familial and sporadic prostate cancer

Debes, J. D., Yokomizo, A., McDonnell, S. K., Hebbring, S. J., Christensen, G. B., Cunningham, J. M., Jacobsen, S. J., Tindall, D. J., Liu, W., Schaid, D. J. & Thibodeau, S. N., Nov 1 2004, In : Cancer Genetics and Cytogenetics. 155, 1, p. 82-86 5 p.

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20 Scopus citations

Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men

Mullan, R. J., Bergstralh, E. J., Farmer, S. A., Jacobson, D. J., Hebbring, S. J., Cunningham, J. M., Thibodeau, S. N., Lieber, M. M., Jacobsen, S. J. & Roberts, R. O., Feb 1 2006, In : Urology. 67, 2, p. 300-305 6 p.

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18 Scopus citations

gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels

Larson, N. B., McDonnell, S., Cannon Albright, L., Teerlink, C., Stanford, J., Ostrander, E. A., Isaacs, W. B., Xu, J., Cooney, K. A., Lange, E., Schleutker, J., Carpten, J. D., Powell, I., Bailey-Wilson, J. E., Cussenot, O., Cancel-Tassin, G., Giles, G. G., MacInnis, R. J., Maier, C., Whittemore, A. S. & 12 others, Hsieh, C. L., Wiklund, F., Catolona, W. J., Foulkes, W., Mandal, D., Eeles, R., Kote-Jarai, Z., Ackerman, M. J., Olson, T. M., Klein, C. J., Thibodeau, S. N. & Schaid, D. J., May 2017, In : Genetic epidemiology. 41, 4, p. 297-308 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

H63D is an haemochromatosis associated allele (multiple letters)

Fairbanks, V. F., Brandhagen, D. J., Thibodeau, S. N., Snow, K., Wollan, P. C., Worwood, M., Bowen, D. J., Burnett, A. K., Jackson, H. A., Lawless, S., Raha- Chowdhury, R., Shearman, J. D., Wallace, D. F., Dooley, J. S., Partridge, J., Walker, A. P., Bomford, A., Rosenberg, W. M. C., Merryweather-Clarke, A. T., Robson, K. J. H. & 3 others, Pointon, J. J., Powell, L. W. & Goldwurm, S., 1998, In : Gut. 43, 3, p. 441-442 2 p.

Research output: Contribution to journalLetter

Open Access
25 Scopus citations

Hb Cook [β132(H10)Lys→Thr]: A new hemoglobin variant in a southeast Asian family

Hutt, P. J., Fairbanks, V. F., Griffin, T. C., Thibodeau, S. N., Green, M. M. & Hoyer, J. D., Jan 1 1996, In : Hemoglobin. 20, 4, p. 371-376 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

Hb seal rock [(α2)142 term→Glow, Codon 142 TAA→GAA]: An extended α chain variant associated with Anemia, Microcytosis, and α-Thalassemia-2 (- 3.7 Kb)a

Merritt, D., Jones, R. T., Head, C., Thibodeau, S. N., Fairbanks, V. F., Steinberg, M. H., Coleman, M. B. & Rodgers, G. P., 1997, In : Hemoglobin. 21, 4, p. 331-344 14 p.

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11 Scopus citations

Hb Silver Springs [β131(H9)Gln→His], a new hemoglobin variant found in six African-Americans

Hoyer, J. D., Wick, M. J., Thibodeau, S. N., Kechteiger, K. S., Cook, J. D. & Fairbanks, V. F., Jan 1 1998, In : Hemoglobin. 22, 1, p. 37-44 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Hb Tak confirmed by DNA analysis: Not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote

Hoyer, J. D., Wick, M. J., Thibodeau, S. N., Viker, K. A., Conner, R. & Fairbanks, V. F., Jan 1 1998, In : Hemoglobin. 22, 1, p. 45-52 8 p.

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15 Scopus citations

Hb T-Cambodia, a β chain variant with the mutations of HB E and HB D- Punjab, confirmed by DNA analysis

Hutt, P. J., Fairbanks, V. F., Thibodeau, S. N., Green, M. M., Hoyer, J. D., Block, S. H., Day, C., Jones, R. T. & Barwick, R. C., Jan 1 1997, In : Hemoglobin. 21, 3, p. 205-218 14 p.

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19 Scopus citations