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  • Finland

  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

  • PL 63 (Haartmaninkatu 8), B322b

    HELSINGIN YLIOPISTO

    Finland

20102019
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Publications 2010 2019

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2019

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation

Hirvonen, E. A. M., Peuhkuri, S., Norberg, A., Degerman, S., Hannula-Jouppi, K., Välimaa, H., Kilpivaara, O. & Wartiovaara-Kautto, U., Jan 2019, In : Leukemia. 33, 1, p. 275-278 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., Karhu, A., Taira, A., Tanskanen, T., Alkodsi, A., Taipale, M., Morgunova, E., Franssila, K., Lehtonen, R., Mäkinen, M., Aittomäki, K. & 15 othersPalotie, A., Kurki, M., Pietiläinen, O., Hilpert, M., Saarentaus, E., Niinimäki, J., Junttila, J., Kaikkonen, K., Vahteristo, P., Skoda, R. C., Seppänen, M. R. J., Eklund, K. K., Taipale, J., Kilpivaara, O. & Aaltonen, L. A., 19 Mar 2019, In : Nature Communications. 10, 17 p., 1252.

Research output: Contribution to journalArticleScientificpeer-review

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2018

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 othersRenkonen-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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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 othersTaira, 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

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Germline alterations in a consecutive series of acute myeloid leukemia

Wartiovaara-Kautto, U., Hirvonen, E. A. M., Pitkänen, E., Heckman, C., Saarela, J., Kettunen, K., Porkka, K. & Kilpivaara, O., Oct 2018, In : Leukemia. 32, 10, p. 2282-2285 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
2017
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Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Hirvonen, E. A. M., Pitkanen, E., Hemminki, K., Aaltonen, L. A. & Kilpivaara, O., 20 Apr 2017, In : Human Genomics. 11, 6 p., 6.

Research output: Contribution to journalArticleScientificpeer-review

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2015

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 othersTaipale, J. & Aaltonen, L. A., 1 Jul 2015, In : Nature Genetics. 47, 7, p. 818-+

Research output: Contribution to journalArticleScientificpeer-review

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing

Ristolainen, H., Kilpivaara, O., Kamper, P., Taskinen, M., Saarinen, S., Leppa, S., d'Amore, F. & Aaltonen, L. A., Aug 2015, In : British Journal of Haematology. 170, 3, p. 428-431 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Systematic search for rare variants in Finnish early-onset colorectal cancer patients

Tanskanen, T., Gylfe, A. E., Katainen, R., Taipale, M., Renkonen-Sinisalo, L., Järvinen, H., Mecklin, J-P., Bohm, J., Kilpivaara, O., Pitkanen, E., Palin, K., Vahteristo, P., Tuupanen, S. & Aaltonen, L. A., 2015, In : Cancer Genetics. 208, 1-2, p. 35-U100 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2014

Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer

Cajuso Pons, T., Hänninen, U. A., Kondelin, J., Gylfe, A. E., Tanskanen, T., Katainen, R., Pitkanen, E., Ristolainen, H., Kaasinen, E., Taipale, M., Taipale, J., Bohm, J., Renkonen-Sinisalo, L., Mecklin, J-P., Jarvinen, H., Tuupanen, S., Kilpivaara, O. & Vahteristo, P., 1 Aug 2014, In : International Journal of Cancer. 135, 3, p. 611-623 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer

Pitkanen, E., Cajuso Pons, T., Katainen, R., Kaasinen, E., Valimaki, N., Palin, K., Taipale, J., Aaltonen, L. A. & Kilpivaara, O., 2014, In : Oncotarget. 5, 3, p. 853-859 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis

Rampal, R., Al-Shahrour, F., Abdel-Wahab, O., Patel, J. P., Brunel, J-P., Mermel, C. H., Bass, A. J., Pretz, J., Ahn, J., Hricik, T., Kilpivaara, O., Wadleigh, M., Busque, L., Gilliland, D. G., Golub, T. R., Ebert, B. L. & Levine, R. L., 29 May 2014, In : Blood. 123, 22, p. E123-E133 11 p.

Research output: Contribution to journalArticleScientificpeer-review

2013

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

Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer

Gylfe, A. E., Katainen, R., Kondelin, J., Tanskanen, T., Cajuso Pons, T., Hänninen, U., Taipale, J., Taipale, M., Renkonen-Sinisalo, L., Järvinen, H., Mecklin, J-P., Kilpivaara, O., Pitkänen, E., Vahteristo, P., Tuupanen, S., Karhu, A. & Aaltonen, L. A., 18 Oct 2013, In : PLoS Genetics. 9, 10, 8 p., e1003876.

Research output: Contribution to journalArticleScientificpeer-review

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Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients

Tanskanen, T., Gylfe, A. E., Katainen, R., Taipale, M., Renkonen-Sinisalo, L., Mecklin, J-P., Järvinen, H., Tuupanen, S., Kilpivaara, O., Vahteristo, P. & Aaltonen, L. A., Jun 2013, In : Scandinavian Journal of Gastroenterology. 48, 6, p. 672-678 7 p.

Research output: Contribution to journalArticleScientificpeer-review

HOXB13 G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk

Laitinen, V. H., Wahlfors, T., Saaristo, L., Rantapero, T., Pelttari, L. M., Kilpivaara, O., Laasanen, S-L., Kallioniemi, A., Nevanlinna, H., Aaltonen, L., Vessella, R. L., Auvinen, A., Visakorpi, T., Tammela, T. L. J. & Schleutker, J., Mar 2013, In : Cancer Epidemiology, Biomarkers & Prevention. 22, 3, p. 452-460 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of Candidate Oncogenes in Human Colorectal Cancers With Microsatellite Instability

Gylfe, A. E., Kondelin, J., Turunen, M., Ristolainen, H., Katainen, R., Pitkänen, E., Kaasinen, E., Rantanen, V., Tanskanen, T., Varjosalo, M., Lehtonen, H., Palin, K., Taipale, M., Taipale, J., Renkonen-Sinisalo, L., Järvinen, H., Bohm, J., Mecklin, J-P., Ristimäki, A., Kilpivaara, O. & 4 othersTuupanen, S., Karhu, A., Vahteristo, P. & Aaltonen, L. A., Sep 2013, In : Gastroenterology. 145, 3, p. 540-+ 26 p.

Research output: Contribution to journalArticleScientificpeer-review

Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon alpha-2a

Quintas-Cardama, A., Abdel-Wahab, O., Manshouri, T., Kilpivaara, O., Cortes, J., Roupie, A-L., Zhang, S-J., Harris, D., Estrov, Z., Kantarjian, H., Levine, R. L. & Verstovsek, S., 8 Aug 2013, In : Blood. 122, 6, p. 893-901 9 p.

Research output: Contribution to journalArticleScientificpeer-review

MYBL2 is a sub-haploinsufficient tumor suppressor gene in myeloid malignancy

Heinrichs, S., Conover, L. F., Bueso-Ramos, C. E., Kilpivaara, O., Stevenson, K., Neuberg, D., Loh, M. L., Wu, W-S., Rodig, S. J., Garcia-Manero, G., Kantarjian, H. M. & Look, A. T., 16 Jul 2013, In : eLife. 2, 20 p., 00825.

Research output: Contribution to journalArticleScientificpeer-review

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Nationwide Registry-Based Analysis of Cancer Clustering Detects Strong Familial Occurrence of Kaposi Sarcoma

Kaasinen, E., Aavikko, M., Vahteristo, P., Patama, T., Li, Y., Saarinen, S., Kilpivaara, O., Pitkänen, E., Knekt, P., Laaksonen, M., Lehtonen, R., Artama, M., Aaltonen, L. A. & Pukkala, E., 24 Jan 2013, In : PLoS One. 8, 1, p. Article Number: e55209 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2012

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer

Kämpjärvi, K., Mäkinen, N., Kilpivaara, O., Arola, J., Heinonen, H-R., Bohm, J., Abdel-Wahab, O., Lehtonen, H. J., Pelttari, L. M., Mehine, M., Schrewe, H., Nevanlinna, H., Levine, R. L., Hokland, P., Bohling, T., Mecklin, J-P., Butzow, R., Aaltonen, L. A. & Vahteristo, P., 6 Nov 2012, In : British Journal of Cancer. 107, 10, p. 1761-1765 5 p.

Research output: Contribution to journalArticleScientificpeer-review

2011

Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications

Muranen, T. A., Greco, D., Fagerholm, R., Kilpivaara, O., Kämpjärvi, K., Aittomaki, K., Blomqvist, C., Heikkila, P., Borg, A. & Nevanlinna, H., 2011, In : Breast Cancer Research. 13, p. R90 12 p.

Research output: Contribution to journalArticleScientificpeer-review

2010

Genomic subtypes of breast cancer identified by array-comparative genomic hybridization display distinct molecular and clinical characteristics

Jonsson, G., Staaf, J., Vallon-Christersson, J., Ringner, M., Holm, K., Hegardt, C., Gunnarsson, H., Fagerholm, R., Strand, C., Agnarsson, B. A., Kilpivaara, O., Luts, L., Heikkilä, P., Aittomäki, K., Blomqvist, C., Loman, N., Malmstrom, P., Olsson, H., Johannsson, O. T., Arason, A. & 3 othersNevanlinna, H., Barkardottir, R. B. & Borg, A., 2010, In : Breast Cancer Research. 12, 3, p. R42 14 p.

Research output: Contribution to journalArticleScientificpeer-review