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Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Trotta L, Norberg A, Taskinen M, Béziat V, Degerman S, Wartiovaara-Kautto U, Välimaa H, Jahnukainen K, Casanova JL, Seppänen M, Saarela J, Koskenvuo M, Martelius T. Trotta L, et al. Among authors: jahnukainen k. Orphanet J Rare Dis. 2018 Aug 17;13(1):139. doi: 10.1186/s13023-018-0864-9. Orphanet J Rare Dis. 2018. PMID: 30115091 Free PMC article.
BK polyomavirus-associated hemorrhagic cystitis among pediatric allogeneic bone marrow transplant recipients: treatment response and evidence for nosocomial transmission.
Koskenvuo M, Dumoulin A, Lautenschlager I, Auvinen E, Mannonen L, Anttila VJ, Jahnukainen K, Saarinen-Pihkala UM, Hirsch HH. Koskenvuo M, et al. Among authors: jahnukainen k. J Clin Virol. 2013 Jan;56(1):77-81. doi: 10.1016/j.jcv.2012.09.003. Epub 2012 Sep 19. J Clin Virol. 2013. PMID: 22999487
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 LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK. Baliakas P, et al. Among authors: jahnukainen k. Hemasphere. 2019 Nov 4;3(6):e321. doi: 10.1097/HS9.0000000000000321. eCollection 2019 Dec. Hemasphere. 2019. PMID: 31976490 Free PMC article.
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK, 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. Lahtinen AK, et al. Among authors: jahnukainen k. Bone Marrow Transplant. 2023 Jan;58(1):39-45. doi: 10.1038/s41409-022-01828-x. Epub 2022 Oct 4. Bone Marrow Transplant. 2023. PMID: 36195768 Free PMC article.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: jahnukainen k. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636
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