Publications

Have a look at our latest achievements and publications.
Selected Publications
  1. Rönkkö R, Nevala A, Pitkäniemi J, Ulla Wartiovaara-Kautto*, Malila Nea*. Subsequent malignant neoplasms after primary hematological malignancy in adult patients. Int J Cancer. 2024, in press.
  2. Nurmi K,  Silventoinen K, Keskitalo S, Rajamäki K , Kouri VP,  Kinnunen M, Jalil S, Maldonado R, Wartiovaara K, Inés Nievas E, Paola Denita-Juárez S, Duncan CJA, Kuismin O, Saarela J, Romo I, Martelius T, Parantainen J,  Beklen A, Bilicka M, Matikainen S,  Nordström DC,  Kaustio M, Wartiovaara-Kautto U, Kilpivaara O, Klein C, Hauck K, Jahkola T22, Timo Hautala, Varjosalo M, Barreto C, SeppänenMRJ*, Eklund KK*. Truncating variants of NFKB1 cause combined NLRP3 inflammasome activation and type I interferon signaling predisposing to necrotizing fasciitis. Cell Rep Med. 2024, in press.
  3. Olkinuora A, Nieminen TT, Douglas S, Kauppinen A, Kontro M, Väänänen J, Kankainen M, Ristimäki A, Mäkinen M, Lahermo P, Heckman C, Saarela J, Salonen M, Lepistö A, Järvinen H, Mecklin J-P, Kilpivaara O, Wartiovaara-Kautto U, Porkka K. & Peltomäki, P. Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia. Leukemia,  2023 Sept 11; 37(11):2301-2305
  4. Leimi L, Koski JR, Kilpivaara O, Vettenranta K, Lokki AI, & Meri S. Rare variants in complement system genes associate with endothelial damage after pediatric allogeneic hematopoietic stem cell transplantation. Front. Immunol., 2023 Sept 13; 14,(10):1249958.
  5. Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, de Latour RP, Leblanc T, de Fontbrune FS, Siitonen T, Lohi O, Hellstrom-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Zaccai TF, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O*, Wartiovaara-Kautto U*. The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia. Blood, 2023 Jun 8; 141(23):2853-2866.*equal contribution
  6. Lahtinen AK, Koski J, Ritari J, Hyvärinen K, Koskel, S, Partanen J, Vettenranta K, Koskenvuo M, Niittyvuopio R, Salmenniemi U, Itälä-Remes M, Jahnukainen K, Kilpivaara O & Wartiovaara-Kautto U. Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients. Bone Marrow Transplantation, Jan 2023; 58(1) p. 39–45
  7. Hakkarainen M, Koski J. R, Heckman CA, Anttila P, Silvennoinen R, Lievonen J, Kilpivaara, O. & Wartiovaara-Kautto U. A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families. eJHaem, 2022 Nov; 3(4): 1352-1357
  8. 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. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment. BJHaem, 2022 Sept 26; 199(5):754-764
  9. Douglas SPM, Lahtinen AK, Koski JR, Leimi L, Keränen MA, Koskenvuo M, Heckman CA, Jahnukainen K, Pitkänen E, Wartiovaara-Kautto, U. & Kilpivaara, O. Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia. Scientific Reports, 2022 Jun 23; 12(1):9
  10. Feurstein S, Churpek JE, 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 DS, Gao G, Cronin T, Gulsuner S, Lee M, Pritchard CC, Subramanian HP, Del Gaudio D, Li Z, Das S, Kilpivaara O, Wartiovaara-Kautto U, Wang ES, Griffiths EA, Döhner K, Döhner H, King MC, Godley LA. Germline variants drive myelodysplastic syndrome in young adults, Leukemia. 2021 Aug;35(8):2439-2444
  11. Rönkko R, Hirvonen E, Malila N, Kilpivaara O, Wartiovaara-Kautto U. & Pitkaniemi J. Familial aggregation of early-onset haematological malignancies. BJHaem, 2021 Jun; 193(6):1134-1141
  12. Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen AR, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Gr Nbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK. Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetics Diagnosis, Clinical Managements and Follow-up. Hemasphere. 2019 Nov 4;3(6):e321
  13. Douglas SPM, Siipola P, Kovanen P, Pyörälä M, Kakko S, Savolainen ER, Salmenniemi U, Orte K, Kytölä S, Pitkänen E, Porkka K, Kilpivaara O*, Wartiovaara-Kautto U*. ERCC6L2 defines a novel entity within inherited acute myeloid leukemia. Blood, 2019 Jun 20;133(25):2724-2728.*equal contribution
  14. Hirvonen EAM, Peuhkuri S, Norberg A, Degerman S, Hannula-Jouppi K, Välimaa H, Kilpivaara O*, Wartiovaara-Kautto*. Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation. Leukemia, 2019 Jan;33(1):275-278 *equal contribution
  15. Wartiovaara-Kautto U*, Hirvonen EAM*, Pitkänen E, Heckman C, Saarela J, Kettunen K, Porkka K, Kilpivaara O. Germline alterations in a consecutive series of acute myeloid leukemia. Leukemia, 2018 Oct;32(10):2282-2285 *equal contribution
  16. Hirvonen EAM, Pitkänen E, Hemminki K, Aaltonen LA, Kilpivaara O. Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera. Human Genomics, 2017 Apr 20;11(1):6
Recent publications