• 47745 Citations
  • 102 Scopus h-Index
1978 …2020

Research output per year

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Research Output

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Review article
2017

Whole-Genome Sequencing in Healthy People

Lindor, N. M., Thibodeau, S. N. & Burke, W., Jan 1 2017, In : Mayo Clinic Proceedings. 92, 1, p. 159-172 14 p.

Research output: Contribution to journalReview article

21 Scopus citations
2016

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

31 Scopus citations
2014

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 2014, In : Nature Genetics. 46, 2, p. 107-115 9 p.

Research output: Contribution to journalReview article

269 Scopus citations
2013

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
2009

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

334 Scopus citations
2005
1 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

84 Scopus citations
1999

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
1995

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., 1995, In : Journal of medical genetics. 32, 11, p. 876-880 5 p.

Research output: Contribution to journalReview article

8 Scopus citations
1992

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
1987

Use of restriction fragment length polymorphism analysis for detecting carriers of 'Fragile X' syndrome

Thibodeau, S. N., 1987, In : Clinical chemistry. 33, 10, p. 1726-1730 5 p.

Research output: Contribution to journalReview article

2 Scopus citations