• 47709 Citations
  • 102 Scopus h-Index
1978 …2020

Research output per year

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Research Output

Prevalence and penetrance of major genes and polygenes for colorectal cancer

Win, A. K., Jenkins, M. A., Dowty, J. G., Antoniou, A. C., Lee, A., Giles, G. G., Buchanan, D. D., Clendenning, M., Rosty, C., Ahnen, D. J., Thibodeau, S. N., Casey, G., Gallinger, S., Le Marchand, L., Haile, R. W., Potter, J. D., Zheng, Y., Lindor, N. M., Newcomb, P. A., Hopper, J. L. & 1 others, MacInnis, R. J., Mar 1 2017, In : Cancer Epidemiology Biomarkers and Prevention. 26, 3, p. 404-412 9 p.

Research output: Contribution to journalArticle

89 Scopus citations

Prevalence of Alterations in DNA Mismatch Repair Genes in Patients With Young-Onset Colorectal Cancer

Limburg, P. J., Harmsen, W. S., Chen, H. H., Gallinger, S., Haile, R. W., Baron, J. A., Casey, G., Woods, M. O., Thibodeau, S. N. & Lindor, N. M., Jun 1 2011, In : Clinical Gastroenterology and Hepatology. 9, 6, p. 497-502 6 p.

Research output: Contribution to journalArticle

45 Scopus citations

Primary splenic lymphocyte-depletion Hodgkin's disease

Zellers, R. A., Thibodeau, S. N. & Banks, P. M., Jan 1 1990, In : American journal of clinical pathology. 94, 4 SUPPL. 1, p. 453-457 5 p.

Research output: Contribution to journalArticle

8 Scopus citations

Proapoptotic Bad and Bid protein expression predict survival in stages II and III colon cancers

Sinicrope, F. A., Rego, R. L., Foster, N. R., Thibodeau, S. N., Alberts, S. R., Windschitl, H. E. & Sargent, D. J., Jul 1 2008, In : Clinical Cancer Research. 14, 13, p. 4128-4133 6 p.

Research output: Contribution to journalArticle

33 Scopus citations

PROCESSING OF PRECURSOR PROTEINS BY PREPARATIONS OF OVIDUCT MICROSOMES

Thibodeau, S. N. & Walsh, K. A., May 1980, In : Annals of the New York Academy of Sciences. 343, 1, p. 180-191 12 p.

Research output: Contribution to journalArticle

9 Scopus citations

Prognostic impact of deficient DNA mismatch repair in patients with stage III colon cancer from a randomized trial of FOLFOX-based adjuvant chemotherapy

Sinicrope, F. A., Mahoney, M. R., Smyrk, T. C., Thibodeau, S. N., Warren, R. S., Bertagnolli, M. M., Nelson, G. D., Goldberg, R. M., Sargent, D. J. & Alberts, S. R., Oct 10 2013, In : Journal of Clinical Oncology. 31, 29, p. 3664-3672 9 p.

Research output: Contribution to journalArticle

158 Scopus citations

Prognostic Impact of Microsatellite Instability and DNA Ploidy in Human Colon Carcinoma Patients

Sinicrope, F. A., Rego, R. L., Halling, K. C., Foster, N., Sargent, D. J., La Plant, B., French, A. J., Laurie, J. A., Goldberg, R. M., Thibodeau, S. N. & Witzig, T. E., Sep 2006, In : Gastroenterology. 131, 3, p. 729-737 9 p.

Research output: Contribution to journalArticle

174 Scopus citations

Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer

French, A. J., Sargent, D. J., Burgart, L. J., Foster, N. R., Kabat, B. F., Goldberg, R., Shepherd, L., Windschitl, H. E. & Thibodeau, S. N., Jun 1 2008, In : Clinical Cancer Research. 14, 11, p. 3408-3415 8 p.

Research output: Contribution to journalArticle

175 Scopus citations

Prolactinoma as the first manifestation of Gardner's syndrome

Goodin, G. S., McCarville, M. B., Thibodeau, S. N., Skapek, S. X., Khoury, J. D. & Spunt, S. L., Feb 1 2008, In : Pediatric Blood and Cancer. 50, 2, p. 409-412 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome

Du, M., Yuan, T., Schilter, K. F., Dittmar, R. L., Mackinnon, A., Huang, X., Tschannen, M., Worthey, E., Jacob, H., Xia, S., Gao, J., Tillmans, L., Lu, Y., Liu, P., Thibodeau, S. N. & Wang, L., Jan 1 2015, In : Human molecular genetics. 24, 1, p. 154-166 13 p., ddu426.

Research output: Contribution to journalArticle

33 Scopus citations

Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort

The PRACTICAL Consortium, 2016, In : BMC Medicine. 14, 1, 66.

Research output: Contribution to journalArticle

17 Scopus citations

Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C. & 313 others, Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y. C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K. T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H. J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H. E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., Dec 1 2019, In : Nature communications. 10, 1, 4386.

Research output: Contribution to journalComment/debate

Open Access

Pyrosequencing Technology as a Method for the Diagnosis of Multiple Endocrine Neoplasia Type 2

Kruckeberg, K. E. & Thibodeau, S. N., Mar 1 2004, In : Clinical chemistry. 50, 3, p. 522-529 8 p.

Research output: Contribution to journalArticle

17 Scopus citations

Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- And clinic-based colorectal tumors: Results from the colon cancer family registry

Cicek, M. S., Lindor, N. M., Gallinger, S., Bapat, B., Hopper, J. L., Jenkins, M. A., Young, J., Buchanan, D., Walsh, M. D., Le Marchand, L., Burnett, T., Newcomb, P. A., Grady, W. M., Haile, R. W., Casey, G., Plummer, S. J., Krumroy, L. A., Baron, J. A. & Thibodeau, S. N., May 2011, In : Journal of Molecular Diagnostics. 13, 3, p. 271-281 11 p.

Research output: Contribution to journalArticle

75 Scopus citations
44 Scopus citations

Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma

Siegelman, M., Mohabeer, A., Fahey, T. J., Tomlinson, G., Mayambala, C., Jafari, S., Noll, W. W., Thibodeau, S. N. & Dawson, D. B., Mar 17 1997, In : Clinical chemistry. 43, 3, p. 453-457 5 p.

Research output: Contribution to journalArticle

18 Scopus citations

Recent applications of PCR in clinical laboratory medicine.

Thibodeau, S. N., May 1994, In : Clinical chemistry. 40, 5, p. 681-682 2 p.

Research output: Contribution to journalComment/debate

Open Access
5 Scopus citations

Reduced COX-2 protein in colorectal cancer with defective mismatch repair

Karnes, W. E., Shattuck-Brandt, R., Burgart, L. J., DuBois, R. N., Tester, D. J., Cunningham, J. M., Kim, C. Y., McDonnell, S. K., Schaid, D. J. & Thibodeau, S. N., Dec 1 1998, In : Cancer research. 58, 23, p. 5473-5477 5 p.

Research output: Contribution to journalArticle

113 Scopus citations

Refined gene localization for MRX7 [6]

Tackels, D., Schwartz, C. E., Thibodeau, S. N. & Michels, V. V., Jul 1 1999, In : American journal of medical genetics. 85, 3, p. 288-289 2 p.

Research output: Contribution to journalLetter

2 Scopus citations

Regression models for linkage heterogeneity applied to familial prostate cancer

Schaid, D. J., McDonnell, S. K. & Thibodeau, S. N., Jan 1 2001, In : American journal of human genetics. 68, 5, p. 1189-1196 8 p.

Research output: Contribution to journalArticle

20 Scopus citations

Rektumkarzinome bei HNPCC.

Translated title of the contribution: Rectal carcinomas in HNPCCMöslein, G., Nelson, H., Thibodeau, S. & Dozois, R. R., 1998, In : Langenbecks Archiv für Chirurgie. Supplement. Kongressband. Deutsche Gesellschaft für Chirurgie. Kongress. 115, p. 1467-1469 3 p.

Research output: Contribution to journalArticle

20 Scopus citations

Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing

Fisch, G. S., Nelson, D. L., Snow, K., Thibodeau, S. N., Chalifoux, M. & Holden, J. J. A., Jul 11 1994, In : American journal of medical genetics. 51, 4, p. 339-345 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

Representative cDNA libraries and their utility in gene expression profiling

Endege, W. O., Steinmann, K. E., Boardman, L. A., Thibodeau, S. N. & Schlegel, R., 1999, In : BioTechniques. 26, 3, p. 542-550 9 p.

Research output: Contribution to journalArticle

Open Access
96 Scopus citations

Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

Shaibi, G. Q., Kullo, I. J., Singh, D. P., Hernandez, V., Sharp, R. R., Cuellar, I., De Filippis, E., Levey, S., Breitkopf, C. R., Mandarino, L. J., Yang, P., Thibodeau, S. N. & Lindor, N. M., Jan 1 2020, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

1 Scopus citations

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Ioannidis, N. M., Rothstein, J. H., Pejaver, V., Middha, S., McDonnell, S. K., Baheti, S., Musolf, A., Li, Q., Holzinger, E., Karyadi, D., Cannon-Albright, L. A., Teerlink, C. C., Stanford, J. L., Isaacs, W. B., Xu, J., Cooney, K. A., Lange, E. M., Schleutker, J., Carpten, J. D., Powell, I. J. & 21 others, Cussenot, O., Cancel-Tassin, G., Giles, G. G., MacInnis, R. J., Maier, C., Hsieh, C. L., Wiklund, F., Catalona, W. J., Foulkes, W. D., Mandal, D., Eeles, R. A., Kote-Jarai, Z., Bustamante, C. D., Schaid, D. J., Hastie, T., Ostrander, E. A., Bailey-Wilson, J. E., Radivojac, P., Thibodeau, S. N., Whittemore, A. S. & Sieh, W., Oct 6 2016, In : American journal of human genetics. 99, 4, p. 877-885 9 p.

Research output: Contribution to journalArticle

268 Scopus citations

Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci

UK Genetic Prostate Cancer Study Collaborators/ British Association of Urological Surgeons' Section of Oncology, UK Protect Study Collaborators, PRACTICAL Consortium, Jul 1 2015, In : Cancer Epidemiology Biomarkers and Prevention. 24, 7, p. 1121-1129 9 p.

Research output: Contribution to journalArticle

39 Scopus citations

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene

Win, A. K., Reece, J. C., Buchanan, D. D., Clendenning, M., Young, J. P., Cleary, S. P., Kim, H., Cotterchio, M., Dowty, J. G., MacInnis, R. J., Tucker, K. M., Winship, I. M., Macrae, F. A., Burnett, T., Le Marchand, L., Casey, G., Haile, R. W., Newcomb, P. A., Thibodeau, S. N., Lindor, N. M. & 3 others, Hopper, J. L., Gallinger, S. & Jenkins, M. A., Jul 23 2015, In : Familial Cancer. 14, 4, p. 575-583 9 p.

Research output: Contribution to journalArticle

7 Scopus citations

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

Win, A. K., Reece, J. C., Dowty, J. G., Buchanan, D. D., Clendenning, M., Rosty, C., Southey, M. C., Young, J. P., Cleary, S. P., Kim, H., Cotterchio, M., Macrae, F. A., Tucker, K. M., Baron, J. A., Burnett, T., Le Marchand, L., Casey, G., Haile, R. W., Newcomb, P. A., Thibodeau, S. N. & 5 others, Hopper, J. L., Gallinger, S., Winship, I. M., Lindor, N. M. & Jenkins, M. A., Oct 1 2016, In : International Journal of Cancer. 139, 7, p. 1557-1563 7 p.

Research output: Contribution to journalArticle

35 Scopus citations

Risk of microsatellite-unstable colorectal cancer is associated jointly with smoking and nonsteroidal anti-inflammatory drug use

Chia, V. M., Newcomb, P. A., Bigler, J., Morimoto, L. M., Thibodeau, S. N. & Potter, J. D., Jul 1 2006, In : Cancer research. 66, 13, p. 6877-6883 7 p.

Research output: Contribution to journalArticle

58 Scopus citations

Risk SNP-Mediated Promoter-Enhancer Switching Drives Prostate Cancer through lncRNA PCAT19

Hua, J. T., Ahmed, M., Guo, H., Zhang, Y., Chen, S., Soares, F., Lu, J., Zhou, S., Wang, M., Li, H., Larson, N. B., McDonnell, S. K., Patel, P. S., Liang, Y., Yao, C. Q., van der Kwast, T., Lupien, M., Feng, F. Y., Zoubeidi, A., Tsao, M. S. & 3 others, Thibodeau, S. N., Boutros, P. C. & He, H. H., Jul 26 2018, In : Cell. 174, 3, p. 564-575.e18

Research output: Contribution to journalArticle

71 Scopus citations

Risks of lynch syndrome cancers for msh6 mutation carriers

Baglietto, L., Lindor, N. M., Dowty, J. G., White, D. M., Wagner, A., Gomez Garcia, E. B., Vriends, A. H. J. T., Cartwright, N. R., Barnetson, R. A., Farrington, S. M., Tenesa, A., Hampel, H., Buchanan, D., Arnold, S., Young, J., Walsh, M. D., Jass, J., MacRae, F., Antill, Y., Winship, I. M. & 19 others, Giles, G. G., Goldblatt, J., Parry, S., Suthers, G., Leggett, B., Butz, M., Aronson, M., Poynter, J. N., Baron, J. A., Le Marchand, L., Haile, R., Gallinger, S., Hopper, J. L., Potter, J., De La Chapelle, A., Vasen, H. F., Dunlop, M. G., Thibodeau, S. N. & Jenkins, M. A., Feb 2010, In : Journal of the National Cancer Institute. 102, 3, p. 193-201 9 p.

Research output: Contribution to journalArticle

228 Scopus citations

Robust multipoint identical-by-descent mapping for affected relative pairs

Schaid, D. J., Sinnwell, J. P. & Thibodeau, S. N., Jan 2005, In : American journal of human genetics. 76, 1, p. 128-138 11 p.

Research output: Contribution to journalArticle

12 Scopus citations

Role of HPC2/ELAC2 in hereditary prostate cancer

Wang, L., McDonnell, S. K., Elkins, D. A., Slager, S. L., Christensen, E., Marks, A. F., Cunningham, J. M., Peterson, B. J., Jacobsen, S. J., Cerhan, J. R., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., Aug 1 2001, In : Cancer research. 61, 17, p. 6494-6499 6 p.

Research output: Contribution to journalArticle

86 Scopus citations

Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer

Hebbring, S. J., Fredriksson, H., White, K. A., Maier, C., Ewing, C., McDonnell, S. K., Jacobsen, S. J., Cerhan, J., Schaid, D. J., Ikonen, T., Autio, V., Tammela, T. L. J., Herkommer, K., Paiss, T., Vogel, W., Gielzak, M., Sauvageot, J., Schleutker, J., Cooney, K. A., Isaacs, W. & 1 others, Thibodeau, S. N., May 1 2006, In : Cancer Epidemiology Biomarkers and Prevention. 15, 5, p. 935-938 4 p.

Research output: Contribution to journalArticle

41 Scopus citations

Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

Win, A. K., Buchanan, D. D., Rosty, C., MacInnis, R. J., Dowty, J. G., Dite, G. S., Giles, G. G., Southey, M. C., Young, J. P., Clendenning, M., Walsh, M. D., Walters, R. J., Boussioutas, A., Smyrk, T. C., Thibodeau, S. N., Baron, J. A., Potter, J. D., Newcomb, P. A., Le Marchand, L., Haile, R. W. & 5 others, Gallinger, S., Lindor, N. M., Hopper, J. L., Ahnen, D. J. & Jenkins, M. A., Jan 1 2015, In : Gut. 64, 1, p. 101-110 10 p.

Research output: Contribution to journalArticle

21 Scopus citations

Rothmund-Thomson syndrome in siblings: Evidence for acquired in vivo mosaicism

Lindor, N. M., Devries, E. M. G., Michels, V. V., Schad, C. R., Jalal, S. M., Donovan, K. M., Smithson, W. A., Kvols, L. K., Thibodeau, S. N. & Dewald, G. W., Mar 1996, In : Clinical Genetics. 49, 3, p. 124-129 6 p.

Research output: Contribution to journalArticle

68 Scopus citations

Salivary gland-type lung carcinomas: An EGFR immunohistochemical, molecular genetic, and mutational analysis study

Macarenco, R. S., Uphoff, T. S., Gilmer, H. F., Jenkins, R. B., Thibodeau, S. N., Lewis, J. E., Molina, J. R., Yang, P. & Aubry, M. C., Sep 1 2008, In : Modern Pathology. 21, 9, p. 1168-1175 8 p.

Research output: Contribution to journalArticle

57 Scopus citations

Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics

Lindor, N. M., Sobell, J. L., Heston, L. L., Thibodeau, S. N. & Sommer, S. S., Jan 1 1994, In : American journal of medical genetics. 54, 1, p. 1-4 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Search for chromosome instability in lymphocytes with germ-line mutations in DNA mismatch repair genes

Lindor, N. M., Jalal, S. M., VanDeWalker, T. J., Cunningham, J. M., Dahl, R. J. & Thibodeau, S. N., Jul 1 1998, In : Cancer Genetics and Cytogenetics. 104, 1, p. 48-51 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Searching for epistasis and linkage heterogeneity by correlations of pedigree-specific linkage scores

Schaid, D. J., McDonnell, S. K., Carlson, E. E., Thibodeau, S. N., Stanford, J. L. & Ostrander, E. A., Jul 1 2008, In : Genetic epidemiology. 32, 5, p. 464-475 12 p.

Research output: Contribution to journalArticle

Segregation of the fragile X mutation from a male with a full mutation: Unusual somatic instability in the FMR-1 locus

Kambouris, M., Snow, K., Thibodeau, S., Bluhm, D., Green, M. & Feldman, G. L., Aug 9 1996, In : American journal of medical genetics. 64, 2, p. 404-407 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation

Snow, K., Tester, D. J., Kruckeberg, K. E., Schaid, D. J. & Thibodeau, S. N., Sep 1 1994, In : Human molecular genetics. 3, 9, p. 1543-1551 9 p.

Research output: Contribution to journalArticle

141 Scopus citations

Sequential expression of miR-182 and miR-503 cooperatively targets FBXW7, contributing to the malignant transformation of colon adenoma to adenocarcinoma

Li, L., Sarver, A. L., Khatri, R., Hajeri, P. B., Kamenev, I., French, A. J., Thibodeau, S. N., Steer, C. J. & Subramanian, S., Dec 1 2014, In : Journal of Pathology. 234, 4, p. 488-501 14 p.

Research output: Contribution to journalArticle

41 Scopus citations

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

Kote-Jarai, Z., Olama, A. A. A., Giles, G. G., Severi, G., Schleutker, J., Weischer, M., Campa, D., Riboli, E., Key, T., Gronberg, H., Hunter, D. J., Kraft, P., Thun, M. J., Ingles, S., Chanock, S., Albanes, D., Hayes, R. B., Neal, D. E., Hamdy, F. C., Donovan, J. L. & 111 others, Pharoah, P., Schumacher, F., Henderson, B. E., Stanford, J. L., Ostrander, E. A., Sorensen, K. D., Dörk, T., Andriole, G., Dickinson, J. L., Cybulski, C., Lubinski, J., Spurdle, A., Clements, J. A., Chambers, S., Aitken, J., Gardiner, R. A. F., Thibodeau, S. N., Schaid, D., John, E. M., Maier, C., Vogel, W., Cooney, K. A., Park, J. Y., Cannon-Albright, L., Brenner, H., Habuchi, T., Zhang, H. W., Lu, Y. J., Kaneva, R., Muir, K., Benlloch, S., Leongamornlert, D. A., Saunders, E. J., Tymrakiewicz, M., Mahmud, N., Guy, M., O'Brien, L. T., Wilkinson, R. A., Hall, A. L., Sawyer, E. J., Dadaev, T., Morrison, J., Dearnaley, D. P., Horwich, A., Huddart, R. A., Khoo, V. S., Parker, C. C., Van As, N., Woodhouse, C. J., Thompson, A., Christmas, T., Ogden, C., Cooper, C. S., Lophatonanon, A., Southey, M. C., Hopper, J. L., English, D. R., Wahlfors, T., Tammela, T. L. J., Klarskov, P., Nordestgaard, B. G., Røder, M. A., Tybjarg-Hansen, A., Bojesen, S. E., Travis, R., Canzian, F., Kaaks, R., Wiklund, F., Aly, M., Lindstrom, S., Diver, W. R., Gapstur, S., Stern, M. C., Corral, R., Virtamo, J., Cox, A., Haiman, C. A., Le Marchand, L., Fitzgerald, L., Kolb, S., Kwon, E. M., Karyadi, D. M., Ørntoft, T. F., Borre, M., Meyer, A., Serth, J., Yeager, M., Berndt, S. I., Marthick, J. R., Patterson, B., Wokolorczyk, D., Batra, J., Lose, F., McDonnell, S. K., Joshi, A. D., Shahabi, A., Rinckleb, A. E., Ray, A., Sellers, T. A., Lin, H. Y., Stephenson, R. A., Farnham, J., Muller, H., Rothenbacher, D., Tsuchiya, N., Narita, S., Cao, G. W., Slavov, C., Mitev, V., Easton, D. F. & Eeles, R. A., Aug 2011, In : Nature Genetics. 43, 8, p. 785-791 7 p.

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219 Scopus citations

Shared heritability and functional enrichment across six solid cancers

Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C. & 313 others, Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y. C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K. T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H. J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H. E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., Dec 1 2019, In : Nature communications. 10, 1, 431.

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11 Scopus citations

Simultaneous measurement of estrogen and progesterone receptors in tumor cytosols with use of 125 I-labeled estradiol and of 3H-R5020

Thibodeau, S. N., Freeman, L. & Jiang, N. S., Jan 1 1981, In : Clinical chemistry. 27, 5, p. 687-691 5 p.

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32 Scopus citations

Single-nucleotide polymorphisms sequencing identifies candidate functional variants at prostate cancer risk loci

Zhang, P., Tillmans, L. S., Thibodeau, S. N. & Wang, L., Jul 2019, In : Genes. 10, 7, 547.

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Open Access

SNP interaction pattern identifier (SIPI): An intensive search for SNP-SNP interaction patterns

Lin, H. Y., Chen, D. T., Huang, P. Y., Liu, Y. H., Ochoa, A., Zabaleta, J., Mercante, D. E., Fang, Z., Sellers, T. A., Pow-Sang, J. M., Cheng, C. H., Eeles, R., Easton, D., Kote-Jarai, Z., Al Olama, A. A., Benlloch, S., Muir, K., Giles, G. G., Wiklund, F., Gronberg, H. & 22 others, Haiman, C. A., Schleutker, J., Nordestgaard, B. G., Travis, R. C., Hamdy, F., Pashayan, N., Khaw, K. T., Stanford, J. L., Blot, W. J., Thibodeau, S. N., Maier, C., Kibel, A. S., Cybulski, C., Cannon-Albright, L., Brenner, H., Kaneva, R., Batra, J., Teixeira, M. R., Pandha, H., Lu, Y. J., Park, J. Y. & Hancock, J., 2017, In : Bioinformatics. 33, 6, p. 822-833 12 p.

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3 Scopus citations

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

Mulligan, L. M., Eng, C., Healey, C. S., Clayton, D., Kwok, J. B. J., Gardner, E., Ponder, M. A., Frilling, A., Jackson, C. E., Lehnert, H., Neumann, H. P. H., Thibodeau, S. N. & Ponder, B. A. J., Jan 1994, In : Nature Genetics. 6, 1, p. 70-74 5 p.

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560 Scopus citations

Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer

Mrkonjic, M., Roslin, N. M., Greenwood, C. M., Raptis, S., Pollett, A., Laird, P. W., Pethe, V. V., Chiang, T., Daftary, D., Dicks, E., Thibodeau, S. N., Gallinger, S., Parfrey, P. S., Younghusband, H. B., Potter, J. D., Hudson, T. J., McLaughlin, J. R., Green, R. C., Zanke, B. W., Newcomb, P. A. & 2 others, Paterson, A. D. & Bapat, B., Oct 13 2010, In : PloS one. 5, 10, e13314.

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33 Scopus citations