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

Research output per year

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Research Output

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Letter
2013

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

8 Scopus citations
2012

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
2007

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 2007, In : European Journal of Human Genetics. 15, 2, p. 139-141 3 p.

Research output: Contribution to journalLetter

5 Scopus citations
2003

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 2003, In : Journal of medical genetics. 40, 3, p. e19

Research output: Contribution to journalLetter

Open Access
8 Scopus citations
2002

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

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

1999

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

94 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
1998

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
1994

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

30 Scopus citations
1992

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