• 46960 Citations
  • 101 Scopus h-Index
1978 …2021

Research output per year

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Research Output

Article

Tumor necrosis factor-α allelic frequency and chromosome 6 allelic imbalance in patients with colorectal cancer

Honchel, R., McDonnell, S., Schaid, D. J. & Thibodeau, S. N., Jan 1 1996, In : Cancer research. 56, 1, p. 145-149 5 p.

Research output: Contribution to journalArticle

50 Scopus citations

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

on behalf of the Melbourne Collaborative Cohort Study and the Australasian Colorectal Cancer Family Registry Cohort investigators, Feb 1 2017, In : Journal of Gastroenterology and Hepatology (Australia). 32, 2, p. 427-438 12 p.

Research output: Contribution to journalArticle

16 Scopus citations

Two common chromosome 8q24 variants are associated with increased risk for prostate cancer

Wang, L., McDonnell, S. K., Slusser, J. P., Hebbring, S. J., Cunningham, J. M., Jacobsen, S. J., Cerhan, J. R., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., Apr 1 2007, In : Cancer research. 67, 7, p. 2944-2950 7 p.

Research output: Contribution to journalArticle

89 Scopus citations

Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome

Dashti, S. G., Li, W. Y., Buchanan, D. D., Clendenning, M., Rosty, C., Winship, I. M., Macrae, F. A., Giles, G. G., Hardikar, S., Hua, X., Thibodeau, S. N., Figueiredo, J. C., Casey, G., Haile, R. W., Gallinger, S., Le Marchand, L., Newcomb, P. A., Potter, J. D., Lindor, N. M., Hopper, J. L. & 2 others, Jenkins, M. A. & Win, A. K., Nov 12 2019, In : British journal of cancer. 121, 10, p. 869-876 8 p.

Research output: Contribution to journalArticle

Uniparental disomy in congenital disorders: A prospective study

Lindor, N. M., Karnes, P. S., Michels, V. V., Dewald, G. W., Goerss, J., Jalal, S., Jenkins, R. B., Vockley, G. & Thibodeau, S. N., Sep 4 1995, In : American journal of medical genetics. 58, 2, p. 143-146 4 p.

Research output: Contribution to journalArticle

12 Scopus citations

Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: Evidence from the International Consortium for Prostate Cancer Genetics (ICPCG)

Jin, G., Lu, L., Cooney, K. A., Ray, A. M., Zuhlke, K. A., Lange, E. M., Cannon-Albright, L. A., Camp, N. J., Teerlink, C. C., Fitzgerald, L. M., Stanford, J. L., Wiley, K. E., Isaacs, S. D., Walsh, P. C., Foulkes, W. D., Giles, G. G., Hopper, J. L., Severi, G., Eeles, R., Easton, D. & 25 others, Kote-Jarai, Z., Guy, M., Rinckleb, A., Maier, C., Vogel, W., Cancel-Tassin, G., Egrot, C., Cussenot, O., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Wiklund, F., Grönberg, H., Emanuelsson, M., Whittemore, A. S., Oakley-Girvan, I., Hsieh, C. L., Wahlfors, T., Tammela, T., Schleutker, J., Catalona, W. J., Zheng, S. L., Ostrander, E. A., Isaacs, W. B. & Xu, J., Jul 1 2012, In : Human genetics. 131, 7, p. 1095-1103 9 p.

Research output: Contribution to journalArticle

14 Scopus citations

Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: Results from the colon cancer family registry

Poynter, J. N., Figueiredo, J. C., Conti, D. V., Kennedy, K., Gallinger, S., Siegmund, K. D., Casey, G., Thibodeau, S. N., Jenkins, M. A., Hopper, J. L., Byrnes, G. B., Baron, J. A., Goode, E. L., Tiirikainen, M., Lindor, N., Grove, J., Newcomb, P., Jass, J., Young, J., Potter, J. D. & 3 others, Haile, R. W., Duggan, D. J. & Le Marchand, L., Dec 1 2007, In : Cancer research. 67, 23, p. 11128-11132 5 p.

Research output: Contribution to journalArticle

79 Scopus citations

Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes

Karyadi, D. M., Geybels, M. S., Karlins, E., Decker, B., McIntosh, L., Hutchinson, A., Kolb, S., McDonnell, S. K., Hicks, B., Middha, S., FitzGerald, L. M., DeRycke, M. S., Yeager, M., Schaid, D. J., Chanock, S. J., Thibodeau, S. N., Berndt, S. I., Stanford, J. L. & Ostrander, E. A., Jan 1 2017, In : Oncotarget. 8, 1, p. 1495-1507 13 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes

Lindor, N. M., Schahl, K. A., Johnson, K. J., Hunt, K. S., Mensink, K. A., Wieben, E. D., Klee, E. W., Black, J. L., Highsmith, W. E. J., Thibodeau, S. N., Ferber, M. J., Aypar, U., Ji, Y., Graham, R., Fiksdal, A. S., Sarangi, V., Ormond, K. E., Riegert-Johnson, D. L., McAllister, T. M., Farrugia, G. & 1 others, McCormick, J. B., Oct 1 2015, In : Mayo Clinic Proceedings. 90, 10, p. 1327-1337 11 p., 1127.

Research output: Contribution to journalArticle

7 Scopus citations
Chapter

An interactive strategy for the accurate characterization of transthyretin variants using combined proteomic and genomic technologies

Zeldenrust, S. R., Bergen, H. R., Nepomuceno, A. I., Butz, M. L., Snow, D. S., Dyck, P. J., Dyck, P. J. B., Klein, C. J., O’brien, J. F., Thibodeau, S. N. & Muddiman, D. C., Jan 1 2004, Amyloid and Amyloidosis. CRC Press, p. 329-331 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

Hereditary nonpolyposis colorectal cancer

Thorland, E. C. & Thibodeau, S. N., Dec 1 2007, Molecular Pathology in Clinical Practice. Springer New York, p. 223-232 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Mendelian and Mitochondrial Inheritance, Gene Identification, and Clinical Testing

Michels, V. V., Thibodeau, S. N. & Thorland, E. C., Dec 1 2005, Peripheral Neuropathy. Elsevier Inc., Vol. 2. p. 1545-1560 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Comment/debate

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

Olson, T. M., Michels, V. V., Urban, Z., Cslszar, K., Christiano, A. M., Driscoll, D. J., Feldt, R. H., Boyd, C. D. & Thibodeau, S. N., Sep 1 1995, In : Human molecular genetics. 4, 9, p. 1677-1679 3 p.

Research output: Contribution to journalComment/debate

76 Scopus citations

Correction to: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8)

Breast and Prostate Cancer Cohort Consortium (BPC3), The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Cancer of the Prostate in Sweden (CAPS), Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium, The Profile Study, Australian Prostate Cancer BioResource (APCB), The IMPACT Study & Canary PASS Investigators, Feb 1 2019, In : Nature Genetics. 51, 2, 1 p.

Research output: Contribution to journalComment/debate

Corrigendum to Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression [Human Molecular Genetics, 22, (2013), 2520-2528] doi:10.1093/hmg/ddt086

Zsofia, K. J., Edward, J. S., Daniel, A. L., Malgorzata, T., Dadaev, T., Sarah, J. L., Helen, R. A., Ali, A. A. O., Benlloch, S., Halim, S., Russell, R., Alison, M. D., Craig, L., Dennis, J., David, E. N., Freddie, C. H., Jenny, L. D., Muir, K., Graham, G., Gianluca, S. & 59 others, Fredrik, W., Henrik, G., Christopher, A. H., Fredrick, S., Brian, E. H., Loic, L. M., Lindstrom, S., Kraft, P., David, J. H., Gapstur, S., Chanock, S., Sonja, I. B., Albanes, D., Andriole, G., Schleutker, J., Weischer, M., Canzian, F., Riboli, E., Tim, J. K., Ruth, C. T., Campa, D., Sue, A. I., Esther, M. J., Richard, B. H., Pharoah, P., Kay-Tee, K., Janet, L. S., Elaine, A. O., Lisa, B. S., Stephen, N. T., Schaid, D., Maier, C., Vogel, W., Adam, S. K., Cybulski, C., Lubinski, J., Lisa, C. A., Brenner, H., Jong, Y. P., Kaneva, R., Batra, J., Spurdle, A., Judith, A. C., Manuel, R. T., Govindasami, K., Guy, M., Rosemary, A. W., Emma, J. S., Morgan, A., Dicks, E., Baynes, C., Conroy, D., Stig, E. B., Kaaks, R., Vincent, D., Bacot, F., Daniel, C. T., Douglas, F. E. & Rosalind, A. E., Oct 1 2013, In : Human molecular genetics. 22, 20, 1 p., ddt334.

Research output: Contribution to journalComment/debate

Erratum: DNA Mismatch Repair Status and Colon Cancer Recurrence and Survival in Clinical Trials of 5-Fluorouracil-Based Adjuvant Therapy (Journal of the National Cancer Institute (2011) 103:11 (863-875))

Sinicrope, A., Foster, N. R., Thibodeau, S. N., Marsoni, S., Monges, G., Labianca, R., Kim, G. P., Yothers, G., Allegra, C., Moore, M. J., Gallinger, S. & Sargent, D. J., Nov 2 2011, In : Journal of the National Cancer Institute. 103, 21, 1 p.

Research output: Contribution to journalComment/debate

Erratum: Diagnosis of α-1-antitrypsin deficiency: An algorithm of genotyping, phenotyping, and quantitation (Clinical Chemistry (2006) 52, (2236-2242) DOI: 10.1373/clinchem.2006.072991)

Snyder, M. R., Katzmann, J. A., Butz, M. L., Wiley, C., Yang, P., Dawson, D. B., Halling, K. C., Highsmith, W. E. & Thibodeau, S. N., Sep 1 2007, In : Clinical chemistry. 53, 9, 1 p.

Research output: Contribution to journalComment/debate

Erratum: MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps (Gastroenterology (2004) 127 (9-16) PII: S0016-5085(04)00580-3 and DOI: 10.1053/j.gastro.2004.03.070)

Wang, L., Baudhuin, L. M., Boardman, L. A., Steenblock, K. J., Petersen, G. M., Halling, K. C., French, A. J., Johnson, R. A., Burgart, L. J., Rabe, K., Lindor, N. M. & Thibodeau, S. N., Nov 2004, In : Gastroenterology. 127, 5, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

Erratum: Frequent loss of heterozygosity at 7q31.1 is associated with tumor aggressiveness and progression (Cancer Research (September 15, 1995) 55 (4114-4119))

Takahashi, S., Shan, A. L., Ritland, S. R., Delacey, K. A., Bostwick, D. G., Lieber, M. M., Thibodeau, S. N. & Jenkins, R. B., Jan 1 1996, In : Cancer research. 56, 10, 1 p.

Research output: Contribution to journalComment/debate

1 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

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., Dec 1 2000, In : Genetics in Medicine. 2, 6, p. 362-366 5 p.

Research output: Contribution to journalComment/debate

28 Scopus citations

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability; Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma

Cunningham, J. M., Christensen, E. R., Tester, D. J., Kim, C. Y., Roche, P. C., Burgart, L. J., Thibodeau, S. N., Herman, J. G., Umar, A., Polyak, J., Graff, J. R., Ahuja, N., Issa, J. P., Markowitz, S., Willson, J. K., Hamilton, S. R., Kinzler, K. W., Kane, M. F., Kolodner, R. D., Vogelstein, B. & 3 others, Kunkel, T. A., Baylin, S. B. & Strauss, B. S., Jan 1 1999, In : Chemtracts. 12, 10, p. 708-713 6 p.

Research output: Contribution to journalComment/debate

MGMT immunohistochemical expression and promoter methylation in human glioblastoma (Applied Immunohistochemistry and Molecular Morphology (2008) 16, (59-65))

Rodriguez, F. J., Thibodeau, S. N., Jenkins, R. B., Schowalter, K. V., Caron, B. L., O'neill, B. P., David James, C., Passe, S., Slezak, J. & Giannini, C., May 1 2008, In : Applied Immunohistochemistry and Molecular Morphology. 16, 3, 1 p.

Research output: Contribution to journalComment/debate

News and comments

Thibodeau, S. N., Jan 1 1993, In : Diseases of the colon and rectum. 36, 8, 1 p.

Research output: Contribution to journalComment/debate

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

Recent applications of PCR in clinical laboratory medicine.

Thibodeau, S. N., May 1 1994, In : Clinical chemistry. 40, 5, p. 681-682 2 p.

Research output: Contribution to journalComment/debate

4 Scopus citations
Editorial

Will molecular genetic markers help predict the clinical behavior of colorectal neoplasia?

Ahlquist, D. A. & Thibodeau, S. N., Apr 1992, In : Gastroenterology. 102, 4 PART 1, p. 1419-1421 3 p.

Research output: Contribution to journalEditorial

5 Scopus citations
Letter

Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression

Clendenning, M., Macrae, F., Walsh, M., Walters, R. J., Thibodeau, S. N., Gunawardena, S. R., Potter, J. D., Haile, R. W., Gallinger, S., Hopper, J. L., Jenkins, M. A., Rosty, C., Young, J. P. & Buchanan, D. D., Jun 1 2013, In : Clinical Genetics. 83, 6, p. 591-593 3 p.

Research output: Contribution to journalLetter

7 Scopus citations

Apolipoprotein E allele in Chamorros with amyotrophic lateral sclerosis/parkinsonism-dementia complex

Waring, S. C., O'Brien, P. C., Kurland, L. T., Thibodeau, S. N., Tsai, M. S., Petersen, R. C. & Esteban-Santillan, C. E., Mar 5 1994, In : The Lancet. 343, 8897, 1 p.

Research output: Contribution to journalLetter

29 Scopus citations

Caution on pedigree haplotype inference with software that assumes linkage equilibrium.

Schaid, D. J., McDonnell, S. K., Wang, L., Cunningham, J. M. & Thibodeau, S. N., Oct 2002, In : American journal of human genetics. 71, 4, p. 992-995 4 p.

Research output: Contribution to journalLetter

Open Access
87 Scopus citations

Correspondence re: C. R. Boland et al., A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: Development of International Criteria for the Determination of Microsatellite Instability in Colorectal Cancer. Cancer Res., 58: 5248- 5257, 1998 (multiple letters)

Perucho, M., Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Burr, R. W., Meltzer, A. J., Rodriguez-Bigas, M. A., Fodde, R., Ranzani, G. N. & Srivastava, S., Jan 1 1999, In : Cancer research. 59, 1, p. 249-256 8 p.

Research output: Contribution to journalLetter

93 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., Sep 17 1998, In : Gut. 43, 3, p. 441-442 2 p.

Research output: Contribution to journalLetter

38 Scopus citations

Lack of referral bias in genetic studies of prostate cancer [8]

Jacobsen, S. J., Thibodeau, S. N., McDonnell, S. K., Peterson, B. J., Bergstralh, E. J., Schaid, D. J. & Blute, M. L., Sep 2002, In : Epidemiology. 13, 5, p. 612-613 2 p.

Research output: Contribution to journalLetter

Minimum qualifications for directors: DNA-based genetic-testing laboratories [10]

Murphy, P., Amos, J., Carpenter, N., Fenwick, R., Hodes, M. E., Kelly, T., Matteson, K., Seltzer, W., Spence, J. E., Thibodeau, S., Venne, V., Wilson, V. & Zonana, J., Jan 1 1992, In : American journal of human genetics. 51, 4, p. 910-912 3 p.

Research output: Contribution to journalLetter

3 Scopus citations

Mutations of SMAD4 account for both LAPS and Myhre syndromes

Lindor, N. M., Gunawardena, S. R. & Thibodeau, S. N., Jun 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 6, p. 1520-1521 2 p.

Research output: Contribution to journalLetter

17 Scopus citations

No fumarate hydratase (FH) mutations in hereditary prostate cancer.

Lehtonen, R., Kiuru, M., Rökman, A., Ikonen, T., Cunningham, J. M., Schaid, D. J., Matikainen, M., Nupponen, N. N., Karhu, A., Kallioniemi, O. P., Thibodeau, S. N., Schleutker, J. & Aaltonen, L. A., Mar 1 2003, In : Journal of medical genetics. 40, 3, p. e19

Research output: Contribution to journalLetter

8 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

Stability of BAT26 in Lynch syndrome colorectal tumours [1]

Jaskowski, L., Young, J., Jackson, L., Arnold, S., Barker, M. A., Walsh, M. D., Buchanan, D. D., Holman, S., Mensink, K. A., Jenkins, M. A., Hopper, J. L., Thibodeau, S. N., Jass, J. R. & Spurdle, A. B., Feb 1 2007, In : European Journal of Human Genetics. 15, 2, p. 139-141 3 p.

Research output: Contribution to journalLetter

4 Scopus citations
Review article

A Genetic Review of Complete and Partial Hydatidiform Moles and Nonmolar Triploidy

LINDOR, NORALANE. M., NEY, JUDITH. A., GAFFEY, THOMAS. A., JENKINS, ROBERT. B., THIBODEAU, STEPHEN. N. & DEWALD, GORDON. W., Jan 1 1992, In : Mayo Clinic proceedings. 67, 8, p. 791-799 9 p.

Research output: Contribution to journalReview article

Open Access
45 Scopus citations

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Thompson, B. A., Spurdle, A. B., Plazzer, J. P., Greenblatt, M. S., Akagi, K., Al-Mulla, F., Bapat, B., Bernstein, I., Capellá, G., Den Dunnen, J. T., Du Sart, D., Fabre, A., Farrell, M. P., Farrington, S. M., Frayling, I. M., Frebourg, T., Goldgar, D. E., Heinen, C. D., Holinski-Feder, E., Kohonen-Corish, M. & 119 others, Robinson, K. L., Leung, S. Y., Martins, A., Moller, P., Morak, M., Nystrom, M., Peltomaki, P., Pineda, M., Qi, M., Ramesar, R., Rasmussen, L. J., Royer-Pokora, B., Scott, R. J., Sijmons, R., Tavtigian, S. V., Tops, C. M., Weber, T., Wijnen, J., Woods, M. O., Macrae, F., Genuardi, M., Castillejo, A., Sexton, A., Chan, A. K. W., Viel, A., Blanco, A., French, A., Laner, A., Wagner, A., Van Den Ouweland, A., Mensenkamp, A., Payá, A., Betz, B., Redeker, B., Smith, B., Espenschied, C., Cummings, C., Engel, C., Fornes, C., Valenzuela, C., Alenda, C., Buchanan, D., Barana, D., Konstantinova, D., Cairns, D., Glaser, E., Silva, F., Lalloo, F., Crucianelli, F., Hogervorst, F., Casey, G., Tomlinson, I., Blanco, I., Villar, I. L., Garcia-Planells, J., Bigler, J., Shia, J., Martinez-Lopez, J., Gille, J. J. P., Hopper, J., Potter, J., Soto, J. L., Kantelinen, J., Ellis, K., Mann, K., Varesco, L., Zhang, L., Marchand, L. L., Marafie, M. J., Nordling, M., Tibiletti, M. G., Kahan, M. A., Ligtenberg, M., Clendenning, M., Jenkins, M., Speevak, M., Digweed, M., Kloor, M., Hitchins, M., Myers, M., Aronson, M., Valentin, M. D., Kutsche, M., Parsons, M., Walsh, M., Kansikas, M., Zahary, M. N., Pedroni, M., Heider, N., Poplawski, N., Rahner, N., Lindor, N. M., Sala, P., Nan, P., Propping, P., Newcomb, P., Sarin, R., Haile, R., Hofstra, R., Ward, R., Tricarico, R., Bacares, R., Young, S., Chialina, S., Kovalenko, S., Gunawardena, S. R., Moreno, S., Ho, S. L., Yuen, S. T., Thibodeau, S. N., Gallinger, S., Burnett, T., Teitsch, T., Chan, T. L., Smyrk, T., Cranston, T., Psofaki, V., Steinke-Lange, V. & Barbera, V. M., Feb 1 2014, In : Nature Genetics. 46, 2, p. 107-115 9 p.

Research output: Contribution to journalReview article

256 Scopus citations
1 Scopus citations

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

Palomaki, G. E., McClain, M. R., Melillo, S., Hampel, H. L. & Thibodeau, S. N., Jan 1 2009, In : Genetics in Medicine. 11, 1, p. 42-65 24 p.

Research output: Contribution to journalReview article

327 Scopus citations

Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy

Olson, T. M., Thibodeau, S. N., Lundquist, P. A., Schaid, D. J. & Michels, V. V., Jan 1 1995, In : Journal of medical genetics. 32, 11, p. 876-880 5 p.

Research output: Contribution to journalReview article

8 Scopus citations

Experimental designs for array comparative genomic hybridization technology

McDonnell, S. K., Riska, S. M., Klee, E. W., Thorland, E. C., Kay, N. E., Thibodeau, S. N., Parker, A. S. & Eckel-Passow, J. E., Jan 1 2013, In : Cytogenetic and Genome Research. 139, 4, p. 250-257 8 p.

Research output: Contribution to journalReview article

5 Scopus citations

PMS2 monoallelic mutation carriers: The known unknown

Goodenberger, M. L., Thomas, B. C., Riegert-Johnson, D., Boland, C. R., Plon, S. E., Clendenning, M., Win, A. K., Senter, L., Lipkin, S. M., Stadler, Z. K., Macrae, F. A., Lynch, H. T., Weitzel, J. N., De La Chapelle, A., Syngal, S., Lynch, P., Parry, S., Jenkins, M. A., Gallinger, S., Holter, S. & 10 others, Aronson, M., Newcomb, P. A., Burnett, T., Le Marchand, L., Pichurin, P., Hampel, H., Terdiman, J. P., Lu, K. H., Thibodeau, S. & Lindor, N. M., Jan 1 2016, In : Genetics in Medicine. 18, 1, p. 13-19 7 p.

Research output: Contribution to journalReview article

30 Scopus citations

Update on hereditary hemochromatosis and the HFE gene

Brandhagen, D. J., Fairbanks, V. F., Batts, K. P. & Thibodeau, S. N., Jan 1 1999, In : Mayo Clinic proceedings. 74, 9, p. 917-921 5 p.

Research output: Contribution to journalReview article

Open Access
19 Scopus citations

Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome

Baudhuin, L. M., Burgart, L. J., Leontovich, O. & Thibodeau, S. N., Sep 1 2005, In : Familial Cancer. 4, 3, p. 255-265 11 p.

Research output: Contribution to journalReview article

80 Scopus citations