• 45506 Citations
  • 100 Scopus h-Index
1978 …2021
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Research Output 1978 2019

  • 45506 Citations
  • 100 Scopus h-Index
  • 491 Article
  • 4 Chapter
  • 4 Comment/debate
  • 1 Review article
Article
54 Citations (Scopus)

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

Hereditary Nonpolyposis Colorectal Neoplasms
Germ-Line Mutation
Mutation
Methylation
DNA Repair Enzymes
73 Citations (Scopus)

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

Colorectal Neoplasms
Neoplasms
Descending Colon
Ascending Colon
Transverse Colon
8 Citations (Scopus)

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

Mutation Rate
Chromosomes
Cystic Fibrosis
Haplotypes
Population
127 Citations (Scopus)

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

Loss of Heterozygosity
Chromosomes, Human, Pair 7
Allelic Imbalance
Prostatic Neoplasms
Neoplasms
58 Citations (Scopus)

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

Mitochondrial DNA
Microsatellite Repeats
Colorectal Neoplasms
Microsatellite Instability
Mutation
34 Citations (Scopus)

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

Chromosome Fragility
Colonic Neoplasms
Fluorescence In Situ Hybridization
Alleles
Odds Ratio
9 Citations (Scopus)

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

DNA Repair
Prostatic Neoplasms
Genes
Single Nucleotide Polymorphism
Genome
104 Citations (Scopus)

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

Gene Regulatory Networks
MicroRNAs
Prostatic Neoplasms
Genes
Phenotype

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

Inborn Genetic Diseases
Hemochromatosis
Genes
8 Citations (Scopus)

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

Blood
Cells
Genetic Testing
Cell Line
Human Herpesvirus 4
19 Citations (Scopus)

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

Physical Chromosome Mapping
Chromosomes, Human, X
Pulsed Field Gel Electrophoresis
Digestion
Fragile X Syndrome
101 Citations (Scopus)

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

Peutz-Jeghers Syndrome
Genetic Heterogeneity
Mutation
Genes
Hyperpigmentation
24 Citations (Scopus)

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

Fragile X Syndrome
DNA Probes
DNA
Genetic Recombination
DNA Restriction Enzymes
28 Citations (Scopus)
Hereditary Nonpolyposis Colorectal Neoplasms
Adenomatous Polyposis Coli
Genetic Testing
Informed Consent
Colonic Neoplasms
2 Citations (Scopus)

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

Angelman Syndrome
Prader-Willi Syndrome
Genetic Testing
38 Citations (Scopus)

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

Multiple Endocrine Neoplasia
Genetic Testing
Codon
Mutation
Germ-Line Mutation
84 Citations (Scopus)

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

Multiple Endocrine Neoplasia
Genetic Testing
Pentagastrin
Information Storage and Retrieval
Calcitonin
39 Citations (Scopus)

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

Prostatic Neoplasms
Genome
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 6
Genetic Linkage
13 Citations (Scopus)

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

Haplotypes
Single Nucleotide Polymorphism
Genome
Genome-Wide Association Study
Prostatic Neoplasms
16 Citations (Scopus)

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

Genome-Wide Association Study
Prostatic Neoplasms
Survival
Survival Analysis
Cause of Death
55 Citations (Scopus)

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

gene interaction
colorectal neoplasms
meat
Colorectal Neoplasms
cancer
12 Citations (Scopus)

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

smoking
colorectal neoplasms
Alcohol Drinking
alcohol
Colorectal Neoplasms
20 Citations (Scopus)

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

Pedigree
Prostatic Neoplasms
Genome
Genetic Heterogeneity
Neoplasm Genes
60 Citations (Scopus)

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

Ovarian Neoplasms
Meta-Analysis
Prostatic Neoplasms
Genome
Breast Neoplasms
62 Citations (Scopus)

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

Biological Phenomena
human cell lines
MicroRNAs
microRNA
Genes
77 Citations (Scopus)

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

Genomic Instability
Microsatellite Instability
Hereditary Nonpolyposis Colorectal Neoplasms
DNA Mismatch Repair
Neoplasms
231 Citations (Scopus)

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

Multiple Endocrine Neoplasia Type 2a
Genetic Association Studies
Mutation
Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia
25 Citations (Scopus)

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

Fragile X Syndrome
Genotype
Mentally Disabled Persons
3 Citations (Scopus)

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

MicroRNAs
Colorectal Neoplasms
DNA
DNA Mismatch Repair
Neoplasms
19 Citations (Scopus)

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

Germ-Line Mutation
Colonic Neoplasms
Registries
Colorectal Neoplasms
Mutation
13 Citations (Scopus)

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

Germ-Line Mutation
Colorectal Neoplasms
Mutation
Autosomal Recessive Polycystic Kidney
Adenocarcinoma
3 Citations (Scopus)

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

Prostatic Neoplasms
cancer
magnetic permeability
chromosomes
loci
19 Citations (Scopus)

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

Transferases
Prostatic Neoplasms
Odds Ratio
Enzymes
Glutathione Transferase
18 Citations (Scopus)

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

Calcitriol Receptors
Prostatic Hyperplasia
Intercellular Signaling Peptides and Proteins
Confidence Intervals
Cytokines
2 Citations (Scopus)

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

Genes
Gene Components
Case-Control Studies
Schizophrenia
Technology
38 Citations (Scopus)

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

3 Citations (Scopus)

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

Hemoglobins
Globins
DNA Sequence Analysis
Codon
Genes
11 Citations (Scopus)

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

Thalassemia
Codon
Anemia
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 2
10 Citations (Scopus)

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

Codon
African Americans
Hemoglobins
Substitution reactions
High performance liquid chromatography
15 Citations (Scopus)

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

Thalassemia
Heterozygote
DNA
Elongation
Amino Acids
19 Citations (Scopus)

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

Globins
Electrophoresis
Codon
Mutation
DNA
27 Citations (Scopus)

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

STAT3 Transcription Factor
Colonic Neoplasms
Histone Deacetylase Inhibitors
Sp3 Transcription Factor
Apoptosis
66 Citations (Scopus)

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

Cell Movement
Catenins
Colorectal Neoplasms
Neoplasms
Carcinogenesis
3 Citations (Scopus)

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

Genetic Markers
Prostatic Neoplasms
Growth
Genes
Gene-Environment Interaction
8 Citations (Scopus)

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

Sickle Hemoglobin
Globins
Codon
Electrophoresis
Exons
21 Citations (Scopus)

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

Microsatellite Instability
Endometrial Neoplasms
Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
DNA Mismatch Repair
23 Citations (Scopus)

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

Diploidy
Microsatellite Repeats
Colorectal Neoplasms
Chromosomal Instability
Allelic Imbalance
56 Citations (Scopus)

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

Microsatellite Instability
DNA Mismatch Repair
Tobacco Products
Microsatellite Repeats
Colorectal Neoplasms
167 Citations (Scopus)

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

Mutation
Proteins
DNA
Cytogenetics
Methylation
26 Citations (Scopus)

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

Rosty, C., Walsh, M. D., Lindor, N. M., Thibodeau, S. N., Mundt, E., Gallinger, S., Aronson, M., Pollett, A., Baron, J. A., Pearson, S., Clendenning, M., Walters, R. J., Nagler, B. N., Crawford, W. J., Young, J. P., Winship, I., Win, A. K., Hopper, J. L., Jenkins, M. A. & Buchanan, D. D., 2014, In : Familial Cancer. 13, 4, p. 573-582 10 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Colonic Neoplasms
Registries
Prostatic Neoplasms
Mutation