Publications
2012
MYBL2 haploinsufficiency increases susceptibility to age-related haematopoietic neoplasia.
Clarke M,
Dumon S,
Ward C,
Jäger R,
Freeman S,
Dawood B,
Sheriff L,
Lorvellec M,
Kralovics R,
Frampton J,
García P.
Leukemia. 2012 Aug 22. doi: 10.1038/leu.2012.241.
2012
Beta thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.
Bento C,
Maia TM,
Milosevic JD,
Carreira IM,
Kralovics R,
Ribeiro ML.
Haematologica. 2012 Aug 8. [Epub ahead of print].
2012
Unraveling the genetic underpinnings of myeloproliferative neoplasm and understanding their effect on disease course and response to therapy: proceedings from the 6th International Post-ASH Symposium.
Abdel-Wahab O,
Pardanani A,
Bernard OA,
Finazzi G,
Crispino JD,
Gisslinger H,
Kralovics R,
Odenike O,
Bhalla K,
Gupta V,
Barosi G,
Gotlib J,
Guglielmelli P,
Kiladjian JJ,
Noel P,
Cazzola M,
Vannucchi AM,
Hoffman R,
Barbui T,
Thiele J,
Van Etten RA,
Mughal T,
Tefferi A.
Am J Hematol. 2012 May;87(5):562-8. doi: 10.1002/ajh.23169. Epub 2012 Mar 28.
2011
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Zimprich A,
Benet-Pages A,
Struhal W,
Graf E,
Eck SH,
Offman MN,
Haubenberger D,
Spielberger S,
Schulte EC,
Lichtner P,
Rossle SC,
Klopp N,
Wolf E,
Seppi K,
Pirker W,
Presslauer S,
Mollenhauer B,
Katzenschlager R,
Foki T,
Hotzy C,
Reinthaler E,
Harutyunyan A,
Kralovics R,
Peters A,
Zimprich F,
Brucke T,
Poewe W,
Auff E,
Trenkwalder C,
Rost B,
Ransmayr G,
Winkelmann J,
Meitinger T,
Strom TM.
Am J Hum Genet. 2011 Jul 15;89(1):168-75.
2011
Homologous recombination of wild-type JAK2, a novel early step in the development of myeloproliferative neoplasm.
Vilaine M,
Olcaydu D,
Harutyunyan A,
Bergeman J,
Tiab M,
Ramee JF,
Chen JM,
Kralovics R,
Hermouet S.
Blood. 2011 Dec 8;118(24):6468-70.
2011
Identification of genomic aberrations associated with disease transformation by means of highresolution SNP array analysis in patients with myeloproliferative neoplasm.
Rumi E,
Harutyunyan A,
Elena C,
Pietra D,
Klampfl T,
Bagienski K,
Berg T,
Casetti I,
Pascutto C,
Passamonti F,
Kralovics R,
Cazzola M.
Am J Hematol. 2011 Dec;86(12): 974-9.
2011
The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.
Olcaydu D,
Rumi E,
Harutyunyan A,
Passamonti F,
Pietra D,
Pascutto C,
Berg T,
Jager R,
Hammond E,
Cazzola M,
Kralovics R.
Haematologica. 2011 Mar;96(3):367-74.
2011
Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression.
Klampfl T,
Harutyunyan A,
Berg T,
Gisslinger B,
Schalling M,
Bagienski K,
Olcaydu D,
Passamonti F,
Rumi E,
Pietra D,
Jager R,
Pieri L,
Guglielmelli P,
Iacobucci I,
Martinelli G,
Cazzola M,
Vannucchi AM,
Gisslinger H,
Kralovics R.
Blood. 2011 Jul 7;118(1):167-76.
2011
Molecular pathogenesis of Philadelphia chromosome negative chronic myeloproliferative neoplasms.
Jager R,
Kralovics R.
Curr Cancer Drug Targets. 2011 Jan;11(1):20-30.
2011
An RNA-Seq strategy to detect the complete coding and non-coding transcriptome including full-length imprinted macro ncRNAs.
Huang R,
Jaritz M,
Guenzl P,
Vlatkovic I,
Sommer A,
Tamir IM,
Marks H,
Klampfl T,
Kralovics R,
Stunnenberg HG,
Barlow DP,
Pauler FM.
PLoS One. 2011;6(11):e27288.
