Publications

  1. 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
  2. Kaasinen E, Kuismin O, Rajamäki K, Ristolainen H, Aavikko M, Kondelin J, Saarinen S, Berta D, Katainen R, Hirvonen EAM, Karhu A, Taira A, Tanskanen T, Alkodsi A, Taipale M, Morgunova E, Franssila K, Lehtonen R, Mäkinen M, Aittomäki K, Palotie A, Kurki M, Pietiläinen O, Hilpert M, Saarentaus E, Niinimäki J, Junttila J, Kaikkonen K, Vahteristo P, Skoda R, Seppänen M, Eklund K, Taipale J, Kilpivaara O*, Aaltonen LA*. Impact of Constitutional TET2 Haploinsufficiency on Molecular and Clinical Phenotype in Humans. Nat Commun, 2019 Mar 19;10(1):1252., *equal contribution

  3. 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
  4. 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
  5. 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
  6. Ristolainen H, Kilpivaara O, Kamper P, Taskinen M, Saarinen S, Leppä S, d'Amore F, Aaltonen LA. Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing. Br J Haematol. 2015 Aug;170(3):428-31.
  7. Rampal R, Al-Shahrour F, Abdel-Wahab O, Patel JP, Brunel JP, Mermel CH, Bass AJ, Pretz J, Ahn J, Hricik T, Kilpivaara O, Wadleigh M, Busque L, Gilliland DG, Golub TR, Ebert BL, Levine RL. Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis. Blood. 2014 May 29;123(22):e123-33.
  8. Heinrichs S, Conover LF, Bueso-Ramos CE, Kilpivaara O, Stevenson K, Neuberg D, Loh ML, Wu WS, Rodig SJ, Garcia-Manero G, Kantarjian HM, Look AT. MYBL2 is a sub-haploinsufficient tumor suppressor gene in myeloid malignancy. Elife. 2013 Jul 16;2:e00825.
  9. Quintás-Cardama A, Abdel-Wahab O, Manshouri T, Kilpivaara O, Cortes J, Roupie AL, Zhang SJ, Harris D, Estrov Z, Kantarjian H, Levine RL, Verstovsek S. Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α-2a. Blood. 2013 Aug 8;122(6):893-901.
  10. Kilpivaara O, Aaltonen LA. Diagnostic cancer genome sequencing and the contribution of germline variants. Science. 2013 Mar 29;339(6127):1559-62.
  11. Koppikar P*, Bhagwat N*, Kilpivaara O*, Manshouri T, Adli M, Hricik T, Liu F, Saunders LM, Mullally A, Abdel-Wahab O, Leung L, Weinstein A, Marubayashi S, Goel A, Gönen M, Estrov Z, Ebert BL, Chiosis G, Nimer SD, Bernstein BE, Verstovsek S, Levine RL. Heterodimeric JAK-STAT activation as a mechanism of persistence to JAK2 inhibitor therapy. Nature. 2012 Sep 6;489(7414):155-9. *equal contribution
  12. Abdel-Wahab O, Kilpivaara O, Patel J, Busque L, Levine RL. The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration. Leukemia. 2010 Sep;24(9):1656-7.
  13. Tefferi A, Lasho TL, Abdel-Wahab O, Guglielmelli P, Patel J, Caramazza D, Pieri L, Finke CM, Kilpivaara O, Wadleigh M, Mai M, McClure RF, Gilliland DG, Levine RL, Pardanani A, Vannucchi AM. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia. 2010 Jul;24(7):1302-9.
  14. Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, Malinge S, Yao J, Kilpivaara O, Bhat R, Huberman K, Thomas S, Dolgalev I, Heguy A, Paietta E, Le Beau MM, Beran M, Tallman MS, Ebert BL, Kantarjian HM, Stone RM, Gilliland DG, Crispino JD, Levine RL. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood. 2009 Jul 2;114(1):144-7.
  15. Kilpivaara O*, Mukherjee S*, Schram AM, Wadleigh M, Mullally A, Ebert BL, Bass  A, Marubayashi S, Heguy A, Garcia-Manero G, Kantarjian H, Offit K, Stone RM, Gilliland DG, Klein RJ, Levine RL. A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat Genet. 2009 Apr;41(4):455-9. *equal contribution
  16. Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008 Oct;22(10):1813-7.

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