Outi Kilpivaara

Publications

Research output per year 2010 2013 2019 2023

• 34 Article
• 2 Letter
• 1 Meeting Abstract
• 1 Review Article

Research output per year

Research output per year

Search results

• 2023

  Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients

  Lahtinen, A. K., Koski, J., Ritari, J., Hyvärinen, K., Koskela, S., Partanen, J., Vettenranta, K., Koskenvuo, M., Niittyvuopio, R., Salmenniemi, U., Itälä-Remes, M., Jahnukainen, K., Kilpivaara, O. & Wartiovaara-Kautto, U., Jan 2023, In: Bone Marrow Transplantation. 58, 1, p. 39–45 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• DeepIFC: Virtual fluorescent labeling of blood cells in imaging flow cytometry data with deep learning

  Timonen, V. A., Kerkelä, E., Impola, U., Penna, L., Partanen, J., Kilpivaara, O., Arvas, M. & Pitkänen, E., Jun 2023, (E-pub ahead of print) In: Cytometry. Part A. 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

• The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

  Hakkarainen, M., Kaaja, I., Douglas, S. P. M., Vulliamy, T., Dokal, I., Soulier, J., Larcher, L., de Latour, R. P., Leblanc, T., de Fontbrune, F. S., Siitonen, T., Lohi, O., Hellstrom-Lindberg, E., Barbany, G., Tesi, B., Shimamura, A., Beier, F., Jackson, S., Kuperman, A. A., Zaccai, T. F., & 9 othersTamary, H., Mecucci, C., Capolsini, I., Jahnukainen, K., Salmenniemi, U., Niinimäki, R., Varilo, T., Kilpivaara, O. & Wartiovaara-Kautto, U., 8 Jun 2023, In: Blood. 141, 23, p. 2853-2866 14 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2022

  A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families

  Hakkarainen, M., Koski, J. R., Heckman, C. A., Anttila, P., Silvennoinen, R., Lievonen, J., Kilpivaara, O. & Wartiovaara-Kautto, U., Nov 2022, In: eJHaem. 3, 4, p. 1352-1357 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia

  Douglas, S. P. M., Lahtinen, A. K., Koski, J. R., Leimi, L., Keränen, M. A., Koskenvuo, M., Heckman, C. A., Jahnukainen, K., Pitkänen, E., Wartiovaara-Kautto, U. & Kilpivaara, O., 23 Jun 2022, In: Scientific Reports. 12, 1, 9 p., 10670.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

  Armes, H., Bewicke-Copley, F., Rio-Machin, A., Di Bella, D., Philippe, C., Wozniak, A., Tummala, H., Wang, J., Ezponda, T., Prosper, F., Dokal, I., Vulliamy, T., Kilpivaara, O., Wartiovaara-Kautto, U., Fitzgibbon, J. & Rouault-Pierre, K., Dec 2022, In: British Journal of Haematology. 199, 5, p. 754-764 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Mutational Signatures Associate With Survival in Gastrointestinal Carcinomas

  Karihtala, P., Porvari, K. & Kilpivaara, O., 2022, In: Cancer Genomics & Proteomics. 19, 5, p. 556-569 14 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2021

  Familial aggregation of early-onset haematological malignancies

  Ronkko, R., Hirvonen, E., Malila, N., Kilpivaara, O., Wartiovaara-Kautto, U. & Pitkaniemi, J., Jun 2021, In: British Journal of Haematology. 193, 6, p. 1134-1141 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Germline variants drive myelodysplastic syndrome in young adults

  Feurstein, S., Churpek, J. E., Walsh, T., Keel, S., Hakkarainen, M., Schroeder, T., Germing, U., Geyh, S., Heuser, M., Thol, F., Pohlkamp, C., Haferlach, T., Gao, J., Owen, C., Goehring, G., Schlegelberger, B., Verma, D., Krause, D. S., Gao, G., Cronin, T., & 15 othersGulsuner, S., Lee, M., Pritchard, C. C., Subramanian, H. P., del Gaudio, D., Li, Z., Das, S., Kilpivaara, O., Wartiovaara-Kautto, U., Wang, E. S., Griffiths, E. A., Dohner, K., Dohner, H., King, M-C. & Godley, L. A., Aug 2021, In: Leukemia. 35, 8, p. 2439-2444 6 p.

  Research output: Contribution to journal › Letter › Scientific
• 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 journal › Article › Scientific › peer-review

  Open Access

  File

• ERCC6L2 defines a novel entity within inherited acute myeloid leukemia

  Douglas, S. P. M., Siipola, P., Kovanen, P. E., Pyörälä, M., Kakko, S., Savolainen, E-R., Salmenniemi, U., Orte, K., Kytölä, S., Pitkänen, E., Porkka, K., Kilpivaara, O. & Wartiovaara-Kautto, U., 20 Jun 2019, In: Blood. 133, 25, p. 2724-2728 7 p.

  Research output: Contribution to journal › Letter › Scientific › peer-review

  Open Access

  File

• 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 journal › Article › Scientific › peer-review

  Open Access

  File

• Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

  Baliakas, P., Tesi, B., Wartiovaara-Kautto, U., Stray-Pedersen, A., Friis, L. S., Dybedal, I., Hovland, R., Jahnukainen, K., Raaschou-Jensen, K., Ljungman, P., Rustad, C. F., Lautrup, C. K., Kilpivaara, O., Kittang, A. O., Grønbæk, K., Cammenga, J., Hellstrom-Lindberg, E. & Andersen, M. K., Dec 2019, In: Hemasphere. 3, 6, 10 p., 321.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

  Cajuso, T., Sulo, P., Tanskanen, T., Katainen, R., Taira, A., Hanninen, U. A., Kondelin, J., Forsstrom, L., Valimaki, N., Aavikko, M., Kaasinen, E., Ristimaki, A., Koskensalo, S., Lepisto, A., Renkonen-Sinisalo, L., Seppala, T., Kuopio, T., Bohm, J., Mecklin, J-P., Kilpivaara, O., & 3 othersPitkanen, E., Palin, K. & Aaltonen, L. A., 6 Sep 2019, In: Nature Communications. 10, 9 p., 4022.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 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 journal › Article › Scientific › peer-review

  Open Access

  File

• 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 journal › Article › Scientific › peer-review

  Open Access

  File

• 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 journal › Article › Scientific › peer-review

  Open Access
• 2017

  Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing

  Pradhan, B., Cajuso, T., Katainen, R., Sulo, P., Tanskanen, T., Kilpivaara, O., Pitkanen, E., Aaltonen, L. A., Kauppi, L. & Palin, K., 6 Nov 2017, In: Scientific Reports. 7, 12 p., 14521.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• 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 journal › Article › Scientific › peer-review

  Open Access

  File
• 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 journal › Article › Scientific › peer-review

  Open Access

  File

• 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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review

• Identification of Novel Germline Variants in Early-Onset Familial Classical Hodgkin Lymphoma with Exome Sequencing

  Kilpivaara, O., Ristolainen, H., Kamper, P., Taskinen, M., Saarinen, S., Leppa, S., d'Amore, F. & Lauri, A. A., 6 Dec 2014, In: Blood. 124, 21, p. 4402 3 p.

  Research output: Contribution to journal › Meeting Abstract › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Review Article › peer-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 journal › Article › Scientific › peer-review

  Open Access

  File

• 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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review

  Open Access

  File

• 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 journal › Article › Scientific › peer-review

  Open Access

  File
• 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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review