Photo of Lauri Aaltonen

Lauri Aaltonen, Professor

  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

1992 …2020
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Publications 1992 2020

Dna-tieto liian tulkinnanvaraista jokamiehen huvitukseksi

Translated title of the contribution: DNA data too ambiguous for layman interpretationsAaltonen, L. A., 3 Jan 2008, In : Helsingin Sanomat.

Research output: Contribution to journalArticleGeneral public

DNA copy-number alterations underlie gene expression differences between microsatellite stable and unstable colorectal cancers

Jorissen, R. N., Lipton, L., Gibbs, P., Chapman, M., Desai, J., Jones, I. T., Yeatman, T. J., East, P., Tomlinson, I. P. M., erspaget, H. W., Aaltonen, L. A., Kruhøffer, M., Ørntoft, T. F., Andersen, C. L. & Sieber, O. M., 2008, In : Clinical Cancer Research. 14, 24, p. 8061-8069 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

Oliveira, C., Westra, J. L., Arango, D., Ollikainen, M., Domingo, E., Ferreira, A., Velho, S., Niessen, R., Lagerstedt, K., Alhopuro, P., Laiho, P., Veiga, I., Teixeira, M. R., Ligtenberg, M., Kleibeuker, J. H., Sijmons, R. H., Plukker, J. T., Imai, K., Lage, P., Hamelin, R. & 8 others, Albuquerque, C., Schwartz, S., Lindblom, A., Peltomäki, P., Yamamoto, H., Aaltonen, L. A., Seruca, R. & Hofstra, R. M. W., 2004, In : Human Molecular Genetics. 13, p. 2303-2311 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids

Vanharanta, S., Pollard, P. J., Lehtonen, H. J., Laiho, P., Sjöberg, J., Leminen, A., Aittomäki, K., Arola, J., Kruhøffer, M., Ørntoft, T. F., Tomlinson, I. P., Kiuru, M., Arango, D. & Aaltonen, L. A., 2006, In : Human Molecular Genetics. 15, 1, p. 97-103 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing

Aktan-Collan, K., Haukkala, A., Pylvänäinen, K., Järvinen, H. J., Aaltonen, L. A., Peltomäki, P., Rantanen, E., Kääriäinen, H. & Mecklin, J-P., 2007, In : Journal of Medical Genetics. 44, 11, p. 732-738 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid

Birkenkamp-Demtröder, K., Olesen, S. H., Sørensen, F. B., Laurberg, S., Laiho, P., Aaltonen, L. A. & Ørntoft, T. F., 2005, In : Gut. 54, 3, p. 374-384 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Differential expression of DHHC9 in microsatellite stable and instable human colorectal cancer subgroups

Mansilla, F., Birkenkamp-Demtröder, K., Kruhøffer, M., Sørensen, F. B., Andersen, C. L., Laiho, P., Aaltonen, L. A., Verspaget, H. W. & Ørntoft, T. F., 2007, In : British Journal of Cancer. 96, 12, p. 1896-1903 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants

Kilpivaara, O. & Aaltonen, L. A., 29 Mar 2013, In : Science. 339, 6127, p. 1559-1562 4 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome

Mecklin, J-P., Aarnio, M., Läärä, E., Kairaluoma, M., Pylvänäinen, K., Peltomäki, P., Aaltonen, L. A. & Järvinen, H. J., 2007, In : Gastroenterology. 133, 4, p. 1093-1098 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region

Vanharanta, S., Wortham, N. C., Langford, C., El-Bahrawy, M., van der Spuy, Z., Sjöberg, J., Lehtonen, R., Karhu, A., Tomlinson, I. P. M. & Aaltonen, L. A., 2007, In : Genes, Chromosomes & Cancer. 46, 5, p. 451-458 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals

Dunlop, M. G., Tenesa, A., Farrington, S. M., Ballereau, S., Brewster, D. H., Koessler, T., Pharoah, P., Schafmayer, C., Hampe, J., Voelzke, H., Chang-Claude, J., Hoffmeister, M., Brenner, H., von Holst, S., Picelli, S., Lindblom, A., Jenkins, M. A., Hopper, J. L., Casey, G., Duggan, D. & 26 others, Newcomb, P. A., Abuli, A., Bessa, X., Ruiz-Ponte, C., Castellvi-Bel, S., Niittymaeki, I., Tuupanen, S., Karhu, A., Aaltonen, L., Zanke, B., Hudson, T., Gallinger, S., Barclay, E., Martin, L., Gorman, M., Carvajal-Carmona, L., Walther, A., Kerr, D., Lubbe, S., Broderick, P., Chandler, I., Pittman, A., Penegar, S., Campbell, H., Tomlinson, I. & Houlston, R. S., Jun 2013, In : Gut. 62, 6, p. 871-881 11 p.

Research output: Contribution to journalArticleScientificpeer-review

CTCF/cohesin-binding sites are frequently mutated in cancer

Katainen, R., Dave, K., Pitkänen, E., Palin, K., Kivioja, T., Valimaki, N., Gylfe, A. E., Ristolainen, H., Hanninen, U. A., Cajuso, T., Kondelin, J., Tanskanen, T., Mecklin, J-P., Järvinen, H., Renkonen-Sinisalo, L., Lepisto, A., Kaasinen, E., Kilpivaara, O., Tuupanen, S., Enge, M. & 2 others, Taipale, J. & Aaltonen, L. A., 1 Jul 2015, In : Nature Genetics. 47, 7, p. 818-+

Research output: Contribution to journalArticleScientificpeer-review

Conventional renal cancer in a patient with fumarate hydratase mutation

Lehtonen, H. J., Blanco, I., Piulats, J. M., Herva, R., Launonen, V. & Aaltonen, L. A., 2007, In : Human Pathology. 38, 5, p. 793-796 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

Järvinen, H. J., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L. A., Peltomäki, P., de la Chapelle, A. & Mecklin, J. P., 2000, In : Gastroenterology. 118, p. 829-834 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Contribution of allelic imbalance to colorectal cancer

Palin, K., Pitkänen, E., Turunen, M., Sahu, B., Pihlajamaa, P., Kivioja, T., Kaasinen, E., Välimäki, N., Hänninen, U. A., Cajuso, T., Aavikko, M., Tuupanen, S., Kilpivaara, O., van den Berg, L., Kondelin, J., Tanskanen, T., Katainen, R., Grau, M., Rauanheimo, H., Plaketti, R-M. & 20 others, Taira, A., Sulo, P., Hartonen, T., Dave, K., Schmierer, B., Botla, S., Sokolova, M., Vähärautio, A., Gladysz, K., Ongen, H., Dermitzakis, E., Bramsen, J. B., Orntoft, T. F., Andersen, C. L., Ristimäki, A., Lepistö, A., Renkonen-Sinisalo, L., Mecklin, J-P., Taipale, J. & Aaltonen, L. A., 10 Sep 2018, In : Nature Communications. 9, 9 p., 3664.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays: genetics and population analysis

Laakso, M., Tuupanen, S., Karhu, A., Lehtonen, R., Aaltonen, L. A. & Hautaniemi, S., 2007, In : Bioinformatics. 23, 15, p. 1952-1961 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer

Kondelin, J., Gylfe, A. E., Lundgren, S., Tanskanen, T., Hamberg, J., Aavikko, M., Palin, K., Ristolainen, H., Katainen, R., Kaasinen, E., Taipale, M., Taipale, J., Renkonen-Sinisalo, L., Jarvinen, H., Bohm, J., Mecklin, J-P., Vahteristo, P., Tuupanen, S., Aaltonen, L. A. & Pitkanen, E., 1 Aug 2017, In : Cancer Research. 77, 15, p. 4078-4088 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

Kondelin, J., Salokas, K., Saarinen, L., Ovaska, K., Rauanheimo, H., Plaketti, R-M., Hamberg, J., Liu, X., Yadav, L., Gylfe, A. E., Cajuso, T., Hänninen, U. A., Palin, K., Ristolainen, H., Katainen, R., Kaasinen, E., Tanskanen, T., Aavikko, M., Taipale, M., Taipale, J. & 17 others, Renkonen-Sinisalo, L., Lepistö, A., Koskensalo, S., Böhm, J., Mecklin, J-P., Ongen, H., Dermitzakis, E. T., Kilpivaara, O., Vahteristo, P., Turunen, M., Hautaniemi, S., Tuupanen, S., Karhu, A., Välimäki, N., Varjosalo, M., Pitkänen, E. & Aaltonen, L. A., 2018, In : EMBO molecular medicine. 10, 9, 20 p., e8552.

Research output: Contribution to journalArticleScientificpeer-review

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Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Dunlop, M. G., Dobbins, S. E., Farrington, S. M., Jones, A. M., Palles, C., Whiffin, N., Tenesa, A., Spain, S., Broderick, P., Ooi, L-Y., Domingo, E., Smillie, C., Henrion, M., Frampton, M., Martin, L., Grimes, G., Gorman, M., Semple, C., Ma, Y. P., Barclay, E. & 31 others, Prendergast, J., Cazier, J-B., Olver, B., Penegar, S., Lubbe, S., Chander, I., Carvajal-Carmona, L. G., Ballereau, S., Lloyd, A., Vijayakrishnan, J., Zgaga, L., Rudan, I., Theodoratou, E., Starr, J. M., Deary, I., Kirac, I., Kovacevic, D., Aaltonen, L. A., Renkonen-Sinisalo, L., Mecklin, J-P., Matsuda, K., Nakamura, Y., Okada, Y., Gallinger, S., Duggan, D. J., Conti, D., Newcomb, P., Hopper, J., Jenkins, M. A., Schumacher, F. & Swedish Low-Risk Colorectal Canc, Coin Collaborative Grp, Colorectal Tumour Gene Identificat, 2012, In : Nature Genetics. 44, 7, p. 770-U197 9 p.

Research output: Contribution to journalArticleScientificpeer-review

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

Tomlinson, I. P. M., Dunlop, M., Campbell, H., Zanke, B., Gallinger, S., Hudson, T., Koessler, T., Pharoah, P. D., Niittymäki, I., Tuupanen, S., Aaltonen, L. A., Hemminki, K., Lindblom, A., Forsti, A., Sieber, O., Lipton, L., van Wezel, T., Morreau, H., Wijnen, J. T., Devilee, P. & 31 others, Matsuda, K., Nakamura, Y., Castellvi-Bel, S., Ruiz-Ponte, C., Castells, A., Carracedo, A., Ho, J. W. C., Sham, P., Hofstra, R. M. W., Vodicka, P., Brenner, H., Hampe, J., Schafmayer, C., Tepel, J., Schreiber, S., Volzke, H., Lerch, M. M., Schmidt, C. A., Buch, S., Moreno, V., Villanueva, C. M., Peterlongo, P., Radice, P., Echeverry, M. M., Velez, A., Carvajal-Carmona, L., Scott, R., Penegar, S., Broderick, P., Tenesa, A. & Houlston, R. S., 2010, In : British Journal of Cancer. 102, 2, p. 447-454 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Clusterin expression in normal mucosa and colorectal cancer

Andersen, C. L., Schepeler, T., Thornsen, K., Birkenkamp-Demtröder, K., Mansilla, F., Aaltonen, L. A., Laurberg, S. & Ørntoft, T. F., 2007, In : Molecular & Cellular Proteomics. 6, 6, p. 1039-1048 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Clues to the pathogenesis of familial colorectal cancer

AALTONEN, L. A., Peltomäki, P., LEACH, F. S., SISTONEN, P., PYLKKANEN, L., MECKLIN, J. P., Järvinen, H., POWELL, S. M., JEN, J., HAMILTON, S. R., PETERSEN, G. M., KINZLER, K. W., VOGELSTEIN, B. & de la Chapelle, A., 1993, In : Science. 260, p. 812-816 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families

Nyström-Lahti, M., Sistonen, P., Mecklin, J. P., Pylkkänen, L., Aaltonen, L. A., Järvinen, H., Weissenbach, J., de la Chapelle, A. & Peltomäki, P., 1994, In : Proceedings of the National Academy of Sciences of the United States of America. 91, p. 6054-6058 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Clonally related uterine leiomyomas are common and display branched tumor evolution

Mehine, M., Heinonen, H-R., Sarvilinna, N., Pitkanen, E., Makinen, N., Katainen, R., Tuupanen, S., Butzow, R., Sjoberg, J. & Aaltonen, L. A., 1 Aug 2015, In : Human Molecular Genetics. 24, 15, p. 4407-4416 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Kaasinen, E., Rahikkala, E., Koivunen, P., Miettinen, S., Wamelink, M. M. C., Aavikko, M., Palin, K., Myllyharju, J., Moilanen, J. S., Pajunen, L., Karhu, A. & Aaltonen, L. A., Oct 2014, In : European Journal of Medical Genetics. 57, 10, p. 543-551 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study

Daly, A. F., Tichomirowa, M. A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M-L., Barlier, A., Naves, L. A., Ebeling, T., Karhu, A., Raappana, A., Cazabat, L., De Menis, E., Fajardo Montanana, C., Raverot, G., Weil, R. J., Sane, T., Maiter, D., Neggers, S., Yaneva, M., Tabarin, A. & 43 others, Verrua, E., Eloranta, E., Murat, A., Vierimaa, O., Salmela, P. I., Emy, P., Toledo, R. A., Isabel Sabate, M., Villa, C., Popelier, M., Salvatori, R., Jennings, J., Ferrandez Longas, A., Labarta Aizpun, J. I., Georgitsi, M., Paschke, R., Ronchi, C., Välimäki, M., Saloranta, C., De Herder, W., Cozzi, R., Guitelman, M., Magri, F., Lagonigro, M. S., Halaby, G., Corman, V., Hagelstein, M-T., Vanbellinghen, J-F., Barra, G. B., Gimenez-Roqueplo, A-P., Cameron, F. J., Borson-Chazot, F., Holdaway, I., Toledo, S. P. A., Stalla, G. K., Spada, A., Zacharieva, S., Bertherat, J., Brue, T., Bours, V., Chanson, P., Aaltonen, L. A. & Beckers, A., 2010, In : Journal of Clinical Endocrinology and Metabolism. 95, 11, p. E373-E383 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Chromothripsis in Uterine Leiomyomas Reply

Mehine, M., Kaasinen, E. & Aaltonen, L. A., 28 Nov 2013, In : New England Journal of Medicine. 369, 22, p. 2160-2161 2 p.

Research output: Contribution to journalArticleScientific

CHEK2 I157T associates with familial and sporadic colorectal cancer: [electronic letter]

Kilpivaara, O., Alhopuro, P., Vahteristo, P., Aaltonen, L. A. & Nevanlinna, H., 2006, In : Journal of Medical Genetics. 43, p. e34

Research output: Contribution to journalArticleScientificpeer-review

Characterization of Uterine Leiomyomas by Whole-Genome Sequencing

Mehine, M., Kaasinen, E., Mäkinen, N., Katainen, R., Kämpjärvi, K., Pitkänen, E., Heinonen, H-R., Butzow, R., Kilpivaara, O., Kuosmanen, A., Ristolainen, H., Gentile, M., Sjöberg, J., Vahteristo, P. & Aaltonen, L. A., 4 Jul 2013, In : New England Journal of Medicine. 369, 1, p. 43-53 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583

Tuupanen, S., Yan, J., Turunen, M., Gylfe, A. E., Kaasinen, E., Li, L., Eng, C., Culver, D. A., Kalady, M. F., Pennison, M. J., Pasche, B., Manne, U., de la Chapelle, A., Hampel, H., Henderson, B. E., Le Marchand, L., Hautaniemi, S., Askhtorab, H., Smoot, D., Sandler, R. S. & 6 others, Keku, T., Kupfer, S. S., Ellis, N. A., Haiman, C. A., Taipale, J. & Aaltonen, L. A., 2012, In : Cancer Genetics. 205, 1-2, p. 25-33 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Carbonic anhydrase IX is highly expressed in hereditary nonpolyposis colorectal cancer

Niemela, A. M., Hynninen, P., Mecklin, J-P., Kuopio, T., Kokko, A., Aaltonen, L. A., Parkkila, A-K., Pastorekova, S., Pastorek, J., Waheed, A., Sly, W. S., Ørntoft, T. F., Kruhøffer, M., Haapasalo, H., Parkkila, S. & Kivelä, A., 2007, In : Cancer Epidemiology, Biomarkers & Prevention. 16, 9, p. 1760-1766 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma

Donner, I., Katainen, R., Kaasinen, E., Aavikko, M., Sipilä, L. J., Pukkala, E. & Aaltonen, L. A., Jan 2019, In : Familial Cancer. 18, 1, p. 113-119 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Candidate susceptibility variants for esophageal squamous cell carcinoma

Donner, I., Katainen, R., Tanskanen, T., Kaasinen, E., Aavikko, M., Ovaska, K., Artama, M., Pukkala, E. & Aaltonen, L. A., Jun 2017, In : Genes, Chromosomes & Cancer. 56, 6, p. 453-459 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing

Rinne, S. J., Sipilä, L. J., Sulo, P., Jouanguy, E., Beziat, V., Abel, L., Casanova, J-L., Parvaneh, N., Balighi, K., Guttman-Yassky, E., Sarid, R., Aaltonen, L. A. & Aavikko, M., Oct 2019, In : Open Forum Infectious Diseases. 6, 10, 5 p., 337.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Candidate driver genes in microsatellite-unstable colorectal cancer

Alhopuro, P. P., Sammalkorpi, H. P., Niittymäki, I., Biström, M., Raitila, A., Saharinen, J. M. N., Nousiainen, K. J., Lehtonen, H., Heliövaara, E., Puhakka, J., Tuupanen, S., Sousa, S., Seruca, R., Ferreira, A. M., Hofstra, R. M. W., Mecklin, J-P., Järvinen, H., Ristimäki, A., Orntoft, T. F., Hautaniemi, S. & 3 others, Arango, D., Karhu, A. I. & Aaltonen, L. A., 2012, In : International Journal of Cancer. 130, 7, p. 1558–1566 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Cancer risk in mutation carriers of DNA-mismatch-repair genes

Aarnio, M., Sankila, R., Pukkala, E., Salovaara, R., Aaltonen, L. A., de la Chapelle, A., Peltomäki, P., Mecklin, J. P. & Jarvinen, H. J., 1999, In : International Journal of Cancer. 81, p. 214-218 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset

Hampel, H., Stephens, J. A., Pukkala, E., Sankila, R., Aaltonen, L. A., Mecklin, J-P. & Chapelle, A. D. L., 2005, In : Gastroenterology. 129, 2, p. 415-421 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Brush border Myosin Ia has tumor suppressor activity in the intestine

Mazzolini, R., Dopeso, H., Mateo-Lozano, S., Chang, W., Rodrigues, P., Bazzocco, S., Alazzouzi, H., Landolfi, S., Hernandez-Losa, J., Andretta, E., Alhopuro, P., Espin, E., Armengol, M., Tabernero, J., Ramon y Cajal, S., Kloor, M., Gebert, J., Mariadason, J. M., Schwartz, S., Aaltonen, L. A. & 2 others, Mooseker, M. S. & Arango, D., 31 Jan 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 5, p. 1530-1535 6 p.

Research output: Contribution to journalArticleScientificpeer-review

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes

Domingo, E., Niessen, R., Oliveira, C., Alhopuro, P., Moutinho, C., Espin, E., Armengol, M., Sijmons, R. H., Kleibeuker, J. H., Seruca, R., Aaltonen, L. A., Imai, K., Yamamoto, H., Schwartz, S. & Hofstra, R. M. W., 2005, In : Oncogene. 24, 24, p. 3995-3998 4 p.

Research output: Contribution to journalArticleScientificpeer-review

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

Domingo, E., Laiho, P., Ollikainen, M., Pinto, M., Wang, L., French, A. J., Westra, J., Frebourg, T., Espin, E., Armengol, M., Hamelin, R., Yamamoto, H., Hofstra, R. M. W., Seruca, R., Lindblom, A., Peltomäki, P., Thibodeau, S. N., Aaltonen, L. A. & Schwartz, S., 2004, In : Journal of Medical Genetics. 41, p. 664-668 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease

Vahteristo, P., Kokko, A., Saksela, O., Aittomäki, K. & Aaltonen, L. A., 2007, In : Journal of Medical Genetics. 44, 11, p. 718-720 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Rahikkala, E., Myllykoski, M., Hinttala, R., Vieira, P., Nayebzadeh, N., Weiss, S., Plomp, A. S., Bittner, R. E., Kurki, M. I., Kuismin, O., Lewis, A. M., Väisänen, M-L., Kokkonen, H., Westermann, J., Bernert, G., Tuominen, H., Palotie, A., Aaltonen, L., Yang, Y., Potocki, L. & 6 others, Moilanen, J., van Koningsbruggen, S., Wang, X., Schmidt, W. M., Koivunen, P. & Uusimaa, J., Oct 2019, In : Genetics In medicine. 21, 10, p. 2355-2363 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors

Lehtonen, R., Kiuru, M., Vanharanta, S., Sjöberg, J., Aaltonen, L. M., Aittomaki, K., Arola, J., Butzow, R., Eng, C., Husgafvel-Pursiainen, K., Isola, J., Jarvinen, H., Koivisto, P., Mecklin, J. P., Peltomäki, P., Salovaara, R., Wasenius, V. M., Karhu, A., Launonen, V., Nupponen, N. N. & 1 others, Aaltonen, L. A., 2004, In : The American Journal of Pathology. 164, p. 17-22 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Background mutation frequency in microsatellite-unstable colorectal cancer

Sammalkorpi, H., Alhopuro, P., Lehtonen, R., Tuimala, J., Mecklin, J-P., Järvinen, H. J., Jiricny, J., Karhu, A. & Aaltonen, L. A., 2007, In : Cancer Research. 67, 12, p. 5691-5698 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Äyräpään palkinto 2011 Juha Kerelle

Puolakkainen, P., Aaltonen, L. & Alitalo, K., 2011, In : Duodecim. 127, 1, p. 94-95 2 p.

Research output: Contribution to journalArticleProfessional

A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition

Ropero, S., Fraga, M. F., Ballestar, E., Hamelin, R., Yamamoto, H., Boix-Chornet, M., Caballero, R., Alaminos, M., Setien, F., Paz, M. F., Herranz, M., Palacios, J., Arango, D., Ørntoft, T. F., Aaltonen, L. A., Schwartz, S. & Esteller, M., 2006, In : Nature Genetics. 38, 5, p. 566-569 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

PRACTICAl Consortium, Law, P. J., Timofeeva, M., Fernandez-Rozadilla, C., Palin, K., Hänninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Eriksson, J. G., Jousilahti, P., Ripatti, S., Palotie, A., Renkonen-Sinisalo, L., Lepistö, A., Aaltonen, L. A., Rissanen, H., Salomaa, V. & 3 others, Böhm, J., Mecklin, J-P. & Pukkala, E., 14 May 2019, In : Nature Communications. 10, 15 p., 2154.

Research output: Contribution to journalArticleScientificpeer-review

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