• 46420 Citations
  • 101 Scopus h-Index
1978 …2021

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

  • 46420 Citations
  • 101 Scopus h-Index
  • 492 Article
  • 4 Chapter
  • 4 Comment/debate
  • 1 Review article
Article

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

8 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

54 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

74 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. J., Chong, G. L., Orr, H. T., Perry, T. R., Schaid, D. J., 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., Shan, A. L., Ritland, S. R., Delacey, K. A., Bostwick, D. G., Lieber, M. M., Thibodeau, S. N. & Jenkins, R. B., 1995, In : Cancer Research. 55, 18, p. 4114-4119 6 p.

Research output: Contribution to journalArticle

127 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

59 Scopus citations

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

Cicek, M., 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

9 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

106 Scopus citations

Gene symbol: HFE Disease: Hereditary hemochromatosis

Kruckeberg, K. E., Sundsbak, J. L., Doescher, D. C. & Thibodeau, S. N., 2001, In : Human Genetics. 108, 3, p. 277 1 p.

Research output: Contribution to journalArticle

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 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. J., Bren, G., Schwartz, C. E., Wieringa, B., Ropers, H. H., Callen, D. F., Sutherland, G., Froster-Iskenius, U., Vissing, H. & Davies, K. E., 1989, In : Genomics. 4, 4, p. 570-578 9 p.

Research output: Contribution to journalArticle

19 Scopus citations

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., Väisänen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., Van Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Giné, R., Carballo, M., Morris, C. P., Hopwood, J. J. & Sutherland, G. R., Mar 1991, In : American Journal of Human Genetics. 48, 3, p. 460-467 8 p.

Research output: Contribution to journalArticle

24 Scopus citations
28 Scopus citations

Genetic testing for Prader-Willi and Angelman syndromes

Schad, C. R., Jalal, S. M. & Thibodeau, S. N., 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., 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., 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. L., 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

39 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

13 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 1 2015, In : Cancer Epidemiology Biomarkers and Prevention. 24, 11, p. 1796-1800 5 p.

Research output: Contribution to journalArticle

17 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., 2014, In : PLoS Genetics. 10, 4, e1004228.

Research output: Contribution to journalArticle

56 Scopus citations

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

CCFR and GECCO, Oct 1 2016, In : PLoS Genetics. 12, 10, e1006296.

Research output: Contribution to journalArticle

13 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

20 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

Kar, S. P., Beesley, J., Al Olama, A. A., Michailidou, K., Tyrer, J., Kote-Jarai, Z. A., Lawrenson, K., Lindstrom, S., Ramus, S. J., Thompson, D. J., Kibel, A. S., Dansonka-Mieszkowska, A., Michael, A., Dieffenbach, A. K., Gentry-Maharaj, A., Whittemore, A. S., Wolk, A., Monteiro, A., Peixoto, A., Kierzek, A. & 260 others, Cox, A., Rudolph, A., Gonzalez-Neira, A., Wu, A. H., Lindblom, A., Swerdlow, A., Ziogas, A., Ekici, A. B., Burwinkel, B., Karlan, B. Y., Nordestgaard, B. G., Blomqvist, C., Phelan, C., McLean, C., Pearce, C. L., Vachon, C. M., Cybulski, C., Slavov, C., Stegmaier, C., Maier, C., Ambrosone, C. B., Hogdall, C. K., Teerlink, C. C., Kang, D., Tessier, D. C., Schaid, D. J., Stram, D. O., Cramer, D. W., Neal, D. E., Eccles, D., Flesch-Janys, D., Velez Edwards, D. R., Wokozorczyk, D., Levine, D. A., Yannoukakos, D., Sawyer, E. J., Bandera, E. V., Poole, E. M., Goode, E. L., Khusnutdinova, E., Hogdall, E., Song, F., Bruinsma, F., Heitz, F., Modugno, F., Hamdy, F. C., Wiklund, F., Giles, G. G., Olsson, H., Wildiers, H., Ulmer, H. U., Pandha, H., Risch, H. A., Darabi, H., Salvesen, H. B., Nevanlinna, H., Gronberg, H., Brenner, H., Brauch, H., Anton-Culver, H., Song, H., Lim, H. Y., McNeish, I., Campbell, I., Vergote, I., Gronwald, J., Lubiński, J., Stanford, J. L., Benitez, J., Doherty, J. A., Permuth, J. B., Chang-Claude, J., Donovan, J. L., Dennis, J., Schildkraut, J. M., Schleutker, J., Hopper, J. L., Kupryjanczyk, J., Park, J. Y., Figueroa, J., Clements, J. A., Knight, J. A., Peto, J., Cunningham, J. M., Pow-Sang, J., Batra, J., Czene, K., Lu, K. H., Herkommer, K., Khaw, K. T., Matsuo, K., Muir, K., Offitt, K., Chen, K., Moysich, K. B., Aittomaki, K., Odunsi, K., Kiemeney, L. A., Massuger, L. F. A. G., Fitzgerald, L. M., Cook, L. S., Cannon-Albright, L., Hooning, M. J., Pike, M. C., Bolla, M. K., Luedeke, M., Teixeira, M. R., Goodman, M. T., Schmidt, M. K., Riggan, M., Aly, M., Rossing, M. A., Beckmann, M. W., Moisse, M., Sanderson, M., Southey, M. C., Jones, M., Lush, M., Hildebrandt, M. A. T., Hou, M. F., Schoemaker, M. J., Garcia-Closas, M., Bogdanova, N., Rahman, N., Le, N. D., Orr, N., Wentzensen, N., Pashayan, N., Peterlongo, P., Guenel, P., Brennan, P., Paulo, P., Webb, P. M., Broberg, P., Fasching, P. A., Devilee, P., Wang, Q., Cai, Q., Li, Q., Kaneva, R., Butzow, R., Kopperud, R. K., Schmutzler, R. K., Stephenson, R. A., Macinnis, R. J., Hoover, R. N., Winqvist, R., Ness, R., Milne, R. L., Travis, R. C., Benlloch, S., Olson, S. H., McDonnell, S. K., Tworoger, S. S., Maia, S., Berndt, S., Lee, S. C., Teo, S. H., Thibodeau, S. N., Bojesen, S. E., Gapstur, S. M., Kjar, S. K., Pejovic, T., Tammela, T. L. J., Eeles, A., Easton, D., Kote-Jarai, Z. S., Al Olama, A. A., Benlloch, S., Muir, K., Giles, G. G., Southey, M. C., Fitzgerald, L. M., Gronberg, H., Wiklund, F., Aly, M., Henderson, B. E., Schumacher, F., Haiman, C. A., Schleutker, J., Wahlfors, T., Tammela, T. L. J., Nordestgaard, B. G., Key, T. J., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Pharoah, P., Pashayan, N., Khaw, K. T., Stanford, J. L., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Couch, F. J., Vogel, W., Luedeke, M., Herkommer, K., Kibel, A. S., Cybulski, C., Wokozorczyk, D., Kluzniak, W., Cannon-Albright, L., Brenner, H., Dieffenbach, A. K., Arndt, V., Park, J. Y., Sellers, T., Lim, H. Y., Slavov, C., Kaneva, R., Mitev, V., Batra, J., Spurdle, A., Teixeira, M. R., Paulo, P., Maia, S., Pandha, H., Michael, A., Kierzek, A., Dork, T., Bruning, T., Wahlfors, T., Key, T. J., Edwards, T. L., Menon, U., Hamann, U., Mitev, V., Kosma, V. M., Setiawan, V. W., Kristensen, V., Arndt, V., Vogel, W., Zheng, W., Sieh, W., Blot, W. J., Kluzniak, W., Shu, X. O., Gao, Y. T., Schumacher, F., Freedman, M. L., Berchuck, A., Dunning, A. M., Simard, J., Haiman, C. A., Spurdle, A., Sellers, T. A., Hunter, D. J., Henderson, B. E., Kraft, P., Chanock, S. J., Couch, F. J., Hall, P., Gayther, S. A., Easton, D. F., Chenevix-Trench, G., Eeles, R., Pharoah, P. D. P. & Lambrechts, D., Sep 1 2016, In : Cancer Discovery. 6, 9, p. 1052-1067 16 p.

Research output: Contribution to journalArticle

62 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., 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.

Research output: Contribution to journalArticle

63 Scopus citations

Genomic instability in neoplasia

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

Research output: Contribution to journalArticle

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., 1995, In : Journal of Internal Medicine. 238, 4, p. 343-346 4 p.

Research output: Contribution to journalArticle

232 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., Dec 1991, In : Journal of Medical Genetics. 28, 12, p. 824-829 6 p.

Research output: Contribution to journalArticle

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.

Research output: Contribution to journalArticle

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.

Research output: Contribution to journalArticle

19 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., Bakeberg, J., Rossetti, S., Heyer, C. M., Petersen, G. M., Lindor, N. M., Thibodeau, S. N., Harris, P. C., Torres, V., Hogan, M. C. & Boardman, L. A., Mar 2011, In : Human Genetics. 129, 3, p. 345-349 5 p.

Research output: Contribution to journalArticle

14 Scopus citations

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

PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Nov 5 2018, In : Nature Communications. 9, 1, 1 p.

Research output: Contribution to journalArticle

4 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 2004, In : Cancer Genetics and Cytogenetics. 155, 1, p. 82-86 5 p.

Research output: Contribution to journalArticle

19 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 2006, In : Urology. 67, 2, p. 300-305 6 p.

Research output: Contribution to journalArticle

18 Scopus citations

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

Larson, N., 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., 2017, (Accepted/In press) In : Genetic Epidemiology.

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 journalArticle

38 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., 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.

Research output: Contribution to journalArticle

11 Scopus citations

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

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

Research output: Contribution to journalArticle

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., Block, S. H., Day, C., Jones, R. T. & Barwick, R. C., 1997, In : Hemoglobin. 21, 3, p. 205-218 14 p.

Research output: Contribution to journalArticle

19 Scopus citations

HDAC8 and STAT3 repress BMF gene activity in colon cancer cells

Kang, Y., Nian, H., Rajendran, P., Dashwood, W. M., Pinto, J. T., Boardman, L. A., Thibodeau, S. N., Limburg, P. J., Löhr, C. V., Bisson, W. H., Williams, D. E., Ho, E. & Dashwood, R. H., Jan 1 2014, In : Cell Death and Disease. 5, 10, e1476.

Research output: Contribution to journalArticle

28 Scopus citations

HEF1, a novel target of Wnt signaling, promotes colonic cell migration and cancer progression

Li, Y., Bavarva, J. H., Wang, Z., Guo, J., Qian, C., Thibodeau, S. N., Golemis, E. A. & Liu, W., Jun 9 2011, In : Oncogene. 30, 23, p. 2633-2643 11 p.

Research output: Contribution to journalArticle

67 Scopus citations

Height, selected genetic markers and prostate cancer risk: Results from the PRACTICAL consortium

Lophatananon, A., Stewart-Brown, S., Kote-Jarai, Z., Olama, A. A. A., Garcia, S. B., Neal, D. E., Hamdy, F. C., Donovan, J. L., Giles, G. G., Fitzgerald, L. M., Southey, M. C., Pharoah, P., Pashayan, N., Gronberg, H., Aly, M., Stanford, J. L., Brenner, H., Dieffenbach, A. K., Arndt, V., Park, J. Y. & 80 others, Lin, H. Y., Sellers, T., Slavov, C., Kaneva, R., Mitev, V., Batra, J., Spurdle, A., Clements, J. A., Easton, D., Eeles, R. A., Muir, K., Schleutker, J., Nordestgaard, B. G., Wiklund, F., Travis, R. C., Haiman, C. A., Thibodeau, S. N., Maier, C., Walther, V., Blot, W. J., Kibel, A. S., Cybulski, C., Cannon-Albright, L., Pandha, H., Teixeira, M. R., Cook, M., Govindasami, K., Guy, M., Leongamornlert, D., Sawyer, E. J., Wilkinson, R., Morgan, A., Fisher, C., Saunders, E. J., Tymrakiewicz, M., Livni, N., Hazel, S., Dadaev, T., Cox, A., George, A., Lane, A., Marsden, G., Davis, M., Brown, P., Pedersen, J., Hopper, J. L., Karlsson, A., Cavalli-Bjoerkman, C., Adolfson, J., Johansson, J. E., Broms, M., Stattin, P., Kolb, S., Stegmaier, C., Zachariah, B., Park, H., Haley, J., Pow-Sang, J., Rincon, M., Radlein, S., Vlahova, A., Mitkova, A., Kachakova, D., Popov, E., Christova, S., Dikov, T., Eckert, A., Collins, A., Wood, G., Malone, G., Alexander, K., Kerr, K., Kedda, M. A., Turner, M., Saunders, P., Heathcote, P., Srinivasan, S., Omara, T., Yeadon, T. & Lose, F., Aug 22 2017, In : British Journal of Cancer. 117, 5, p. 734-743 10 p.

Research output: Contribution to journalArticle

3 Scopus citations

Hemoglobin S/hemoglobin Osler: A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn

Hutt, P. J., Donaldson, M. H., Khatri, J., Fairbanks, V. F., Hoyer, J., Thibodeau, S. N., Moxness, M. S., McMorrow, L. E., Green, M. M. & Jones, R. T., 1996, In : American Journal of Hematology. 52, 4, p. 305-309 5 p.

Research output: Contribution to journalArticle

8 Scopus citations

Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas

Graham, R., Kerr, S. E., Butz, M. L., Thibodeau, S. N., Halling, K. C., Smyrk, T. C., Dina, M. A., Waugh, V. M. & Rumilla, K. M., Oct 1 2015, In : American Journal of Surgical Pathology. 39, 10, p. 1370-1376 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer

Boardman, L. A., Johnson, R. A., Petersen, G. M., Oberg, A. L., Kabat, B. F., Slusser, J. P., Wang, L., Morlan, B. W., French, A. J., Smyrk, T. C., Lindor, N. M. & Thibodeau, S. N., Apr 15 2007, In : Clinical Cancer Research. 13, 8, p. 2323-2328 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Higher risk of mismatch repair-deficient colorectal cancer in α1-antitrypsin deficiency carriers and cigarette smokers

Yang, P., Cunningham, J. M., Halling, K. C., Lesnick, T. G., Burgart, L. J., Wiegert, E. M., Christensen, E. R., Lindor, N. M., Katzmann, J. A. & Thibodeau, S. N., 2000, In : Molecular Genetics and Metabolism. 71, 4, p. 639-645 7 p.

Research output: Contribution to journalArticle

57 Scopus citations

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

Hagerman, R. J., Hull, C. E., Safanda, J. F., Carpenter, I., Staley, L. W., O'Connor, R. A., Seydel, C., Mazzocco, M. M. M., Snow, K., Thibodeau, S. N., Kuhl, D., Nelson, D. L., Caskey, C. T. & Taylor, A. K., 1994, In : American Journal of Medical Genetics. 51, 4, p. 298-308 11 p.

Research output: Contribution to journalArticle

168 Scopus citations