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Publications

2014

Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms.

Jäger R, Harutyunyan AS, Rumi E, Pietra D, Berg T, Olcaydu D, Houlston RS, Cazzola M, Kralovics R.
Am J Hematol. 2014 Sep 5. doi: 10.1002/ajh.23842.
2014

From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms.

Cazzola M, Kralovics R.
Blood. 2014 Jun 12;123(24):3714-9. doi: 10.1182/blood-2014-03-530865. Epub 2014 Apr 30.
2014

Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis.

Broséus J, Lippert E, Harutyunyan AS, Jeromin S, Zipperer E, Florensa L, Milosevic JD, Haferlach T, Germing U, Luño E, Schnittger S, Kralovics R, Girodon F.
Leukemia. 2014 Jun;28(6):1374-6. doi: 10.1038/leu.2014.49. Epub 2014 Jan 30.
2014

JAK inhibitor in CALR-mutant myelofibrosis.

Cazzola M, Kralovics R.
N Engl J Med. 2014 Mar 20;370(12):1169. doi: 10.1056/NEJMc1400499. Comment.
2014

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

Marty C, Saint-Martin C, Pecquet C, Grosjean S, Saliba J, Mouton C, Leroy E, Harutyunyan AS, Abgrall JF, Favier R, Toussaint A, Solary E, Kralovics R, Constantinescu SN, Najman A, Vainchenker W, Plo I, Bellanné-Chantelot C.
Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7.
2014

Decanucleotide insertion polymorphism of F7 significantly influences the risk of thrombosis in patients with essential thrombocythemia.

Buxhofer-Ausch V, Olcaydu D, Gisslinger B, Schalling M, Frantal S, Thiele J, Müllauer L, Kvasnicka HM, Watzke H, Kralovics R, Gisslinger H.
Eur J Haematol. 2014 Aug;93(2):103-11. doi: 10.1111/ejh.12307. Epub 2014 Apr 23.
2014

Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms.

Lundberg P, Karow A, Nienhold R, Looser R, Hao-Shen H, Nissen I, Girsberger S, Lehmann T, Passweg J, Stern M, Beisel C, Kralovics R, Skoda RC.
Blood. 2014 Apr 3;123(14):2220-8. doi: 10.1182/blood-2013-11-537167. Epub 2014 Jan 29.
2014

CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis.

Rumi E, Harutyunyan AS, Pietra D, Milosevic JD, Casetti IC, Bellini M, Them NC, Cavalloni C, Ferretti VV, Milanesi C, Berg T, Sant'antonio E, Boveri E, Pascutto C, Astori C, Kralovics R, Cazzola M.
Blood. 2014 Apr 10;123(15):2416-9. doi: 10.1182/blood-2014-01-550434. Epub 2014 Feb 19.
2013

Somatic mutations of calreticulin in myeloproliferative neoplasms.

Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R.
N Engl J Med. 2013 Dec 19;369(25):2379-90. doi: 10.1056/NEJMoa1311347. Epub 2013 Dec 10.
2013

Genetic Basis of MPN: Beyond JAK2-V617F.

Them NC, Kralovics R.
Curr Hematol Malig Rep. 2013 Dec;8(4):299-306. doi: 10.1007/s11899-013-0184-z.