Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants
Kilpivaara, O., Aaltonen, L. A.
Published in Science (American Association for the Advancement of Science) (29.03.2013)
Published in Science (American Association for the Advancement of Science) (29.03.2013)
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Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer
Kämpjärvi, K, Mäkinen, N, Kilpivaara, O, Arola, J, Heinonen, H-R, Böhm, J, Abdel-Wahab, O, Lehtonen, H J, Pelttari, L M, Mehine, M, Schrewe, H, Nevanlinna, H, Levine, R L, Hokland, P, Böhling, T, Mecklin, J-P, Bützow, R, Aaltonen, L A, Vahteristo, P
Published in British journal of cancer (06.11.2012)
Published in British journal of cancer (06.11.2012)
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IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis
Tefferi, A, Lasho, T L, Abdel-Wahab, O, Guglielmelli, P, Patel, J, Caramazza, D, Pieri, L, Finke, C M, Kilpivaara, O, Wadleigh, M, Mai, M, McClure, R F, Gilliland, D G, Levine, R L, Pardanani, A, Vannucchi, A M
Published in Leukemia (01.07.2010)
Published in Leukemia (01.07.2010)
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miR-433 is aberrantly expressed in myeloproliferative neoplasms and suppresses hematopoietic cell growth and differentiation
Lin, X, Rice, K L, Buzzai, M, Hexner, E, Costa, F F, Kilpivaara, O, Mullally, A, Soares, M B, Ebert, B L, Levine, R, Licht, J D
Published in Leukemia (01.02.2013)
Published in Leukemia (01.02.2013)
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Identification of candidate predisposing factors in familial polycythemia vera with exome sequencing
Hirvonen, E, Pitkänen, E, Hemminki, K, Aaltonen, L.A, Kilpivaara, O
Published in EUROPEAN JOURNAL OF CANCER (2016)
Published in EUROPEAN JOURNAL OF CANCER (2016)
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Conference Proceeding
P795: CHARACTERIZATION OF ERCC6L2 SYNDROME PATIENTS’ TRANSCRIPTOME
Douglas, S. P., Kaaja, I., Räisänen, T. H., Pitkänen, E., Kilpivaara, O., Wartiovaara‐Kautto, U.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
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The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1 BRCA2-deficient and ER PR ERBB2-triple-negative breast cancer
Tommiska, J, Bartkova, J, Heinonen, M, Hautala, L, Kilpivaara, O, Eerola, H, Aittomäki, K, Hofstetter, B, Lukas, J, von Smitten, K, Blomqvist, C, Ristimäki, A, Heikkilä, P, Bartek, J, Nevanlinna, H
Published in Oncogene (10.04.2008)
Published in Oncogene (10.04.2008)
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P797: METABOLIC PROFILING IN ERCC6L2 AND SHWACHMAN DIAMOND SYNDROME
Kaaja, I., Douglas, S. P., Räisänen, T. H., Haimilahti, K., Nieminen, A. I., Pirinen, E., Wartiovaara‐Kautto, U., Kilpivaara, O.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
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CHEK2 I157T associates with familial and sporadic colorectal cancer
Kilpivaara, O, Alhopuro, P, Vahteristo, P, Aaltonen, L A, Nevanlinna, H
Published in Journal of medical genetics (01.07.2006)
Published in Journal of medical genetics (01.07.2006)
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CHEK2 1100delC and colorectal cancer
Kilpivaara, O, Laiho, P, Aaltonen, L A, Nevanlinna, H
Published in Journal of medical genetics (01.10.2003)
Published in Journal of medical genetics (01.10.2003)
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Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
Cajuso, Tatiana, Hänninen, Ulrika A., Kondelin, Johanna, Gylfe, Alexandra E., Tanskanen, Tomas, Katainen, Riku, Pitkänen, Esa, Ristolainen, Heikki, Kaasinen, Eevi, Taipale, Minna, Taipale, Jussi, Böhm, Jan, Renkonen‐Sinisalo, Laura, Mecklin, Jukka‐Pekka, Järvinen, Heikki, Tuupanen, Sari, Kilpivaara, Outi, Vahteristo, Pia
Published in International journal of cancer (01.08.2014)
Published in International journal of cancer (01.08.2014)
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Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease
Hakkarainen, Marja, Douglas, Suvi P.M., Vulliamy, Tom, Dokal, Inderjeet, Soulier, Jean, Larcher, Lise, Niinimäki, Riitta, Siitonen, Timo, Hellstrom Lindberg, Eva, Barbany, Gisela, Tesi, Bianca, Kuperman, Amir Asher, Tamary, Hannah, Jackson, Sharon, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla
Published in BLOOD (23.11.2021)
Published in BLOOD (23.11.2021)
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Conference Proceeding
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients
Lahtinen, Atte K., Koski, Jessica, Ritari, Jarmo, Hyvärinen, Kati, Koskela, Satu, Partanen, Jukka, Vettenranta, Kim, Koskenvuo, Minna, Niittyvuopio, Riitta, Salmenniemi, Urpu, Itälä-Remes, Maija, Jahnukainen, Kirsi, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla
Published in Bone marrow transplantation (Basingstoke) (01.01.2023)
Published in Bone marrow transplantation (Basingstoke) (01.01.2023)
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Germline Gene Aberrations Are Common in High-Risk Adult and Pediatric Acute Lymphoblastic Leukemia Patients
Douglas, Suvi, Lahtinen, Atte, Koski, Jessica, Leimi, Lilli, Keränen, Mikko A, Porkka, Kimmo, Heckman, Caroline A, Jahnukainen, Kirsi, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla
Published in BLOOD (13.11.2019)
Published in BLOOD (13.11.2019)
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Conference Proceeding
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia
Douglas, Suvi P. M., Lahtinen, Atte K., Koski, Jessica R., Leimi, Lilli, Keränen, Mikko A. I., Koskenvuo, Minna, Heckman, Caroline A., Jahnukainen, Kirsi, Pitkänen, Esa, Wartiovaara-Kautto, Ulla, Kilpivaara, Outi
Published in Scientific reports (23.06.2022)
Published in Scientific reports (23.06.2022)
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Eleven candidate susceptibility genes for common familial colorectal cancer
Gylfe, Alexandra E, Katainen, Riku, Kondelin, Johanna, Tanskanen, Tomas, Cajuso, Tatiana, Hänninen, Ulrika, Taipale, Jussi, Taipale, Minna, Renkonen-Sinisalo, Laura, Järvinen, Heikki, Mecklin, Jukka-Pekka, Kilpivaara, Outi, Pitkänen, Esa, Vahteristo, Pia, Tuupanen, Sari, Karhu, Auli, Aaltonen, Lauri A
Published in PLoS genetics (01.10.2013)
Published in PLoS genetics (01.10.2013)
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Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing
Pradhan, Barun, Cajuso, Tatiana, Katainen, Riku, Sulo, Päivi, Tanskanen, Tomas, Kilpivaara, Outi, Pitkänen, Esa, Aaltonen, Lauri A., Kauppi, Liisa, Palin, Kimmo
Published in Scientific reports (06.11.2017)
Published in Scientific reports (06.11.2017)
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