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Selected Publications

Loss of major DNase I hypersensitive sites in duplicated β-globin gene cluster incompletely silences HBB gene expression.

Reading NC, ShooterC, Song  JH, Miller R, Agarwal A, Clark B, Lanikova L, Thein SL, Divoky  V,Prchal JT. Human Mutation, accepted, 2016.


Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.

Agarwal AM, Nussenzveig RH, Reading NS, Patel JL, Sangle N, Salama ME, Prchal JT, Perkins SL, Yaish HM, Christensen RD.

Br J Haematol. 2016 Jun 12. doi: 10.1111/bjh.14131.


Delayed hemoglobin switching and perinatal neocytolysis in mice with gain-of-function erythropoietin receptor.

Divoky V, Song J, Horvathova M, Kralova B, Votavova H, Prchal JT, Yoon D.

J Mol Med (Berl). 2016 May;94(5):597-608. doi: 10.1007/s00109-015-1375-y.


Acquired uniparental disomy of chromosome 9p in hematologic malignancies.

Wang L, Wheeler DA, Prchal JT.

Exp Hematol. 2015 Dec 2. pii: S0301-472X(15)00742-0. doi: 10.1016/j.exphem.2015.11.005.


Adaptive genetic changes related to haemoglobin concentration in native high-altitude Tibetans.

Simonson TS, Huff CD, Witherspoon DJ, Prchal JT, Jorde LB.

Exp Physiol. 2015 Nov 1;100(11):1263-8. doi: 10.1113/EP085035.


Increased frequency of co-existing JAK2 exon-12 or MPL exon-10 mutations in patients with low JAK2(V617F) allelic burden.

Nussenzveig RH, Pham HT, Perkins SL, Prchal JT, Agarwal AM, Salama ME.

Leuk Lymphoma. 2016 Jun;57(6):1429-35. doi: 10.3109/10428194.2015.1091932.


Measuring End-Tidal Carbon Monoxide of Jaundiced Neonates in the Birth Hospital to Identify Those with Hemolysis.

Christensen RD, Malleske DT, Lambert DK, Baer VL, Prchal JT, Denson LE, Gerday E, Weaver Lewis KA, Shepherd JG.

Neonatology. 2016;109(1):1-5. doi: 10.1159/000438482.


Presence of polyclonal hematopoiesis in females with Ph-negative myeloproliferative neoplasms.

Swierczek S, Lima LT, Tashi T, Kim SJ, Gregg XT, Prchal JT.

Leukemia. 2015 Dec;29(12):2432-4. doi: 10.1038/leu.2015.249. Epub 2015 Sep 15.


Genetic selection by high altitude: Beware of experiments at ambient conditions.

Prchal JT.

Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):10080-1. doi: 10.1073/pnas.1512899112. Epub 2015 Aug 10. No abstract available.


Comparative long-term effects of interferon α and hydroxyurea on human hematopoietic progenitor cells.

King KY, Matatall KA, Shen CC, Goodell MA, Swierczek SI, Prchal JT.

Exp Hematol. 2015 Oct;43(10):912-918.e2. doi: 10.1016/j.exphem.2015.05.013. Epub 2015 Jun 11.


A pooled analysis of overall survival in COMFORT-I and COMFORT-II, 2 randomized phase III trials of ruxolitinib for the treatment of myelofibrosis.

Vannucchi AM, Kantarjian HM, Kiladjian JJ, Gotlib J, Cervantes F, Mesa RA, Sarlis NJ, Peng W, Sandor V, Gopalakrishna P, Hmissi A, Stalbovskaya V, Gupta V, Harrison C, Verstovsek S; COMFORT Investigators.

Haematologica. 2015 Sep;100(9):1139-45. doi: 10.3324/haematol.2014.119545.


Metabolic aspects of high-altitude adaptation in Tibetans.

Ge RL, Simonson TS, Gordeuk V, Prchal JT, McClain DA.

Exp Physiol. 2015 Nov 1;100(11):1247-55. doi: 10.1113/EP085292. Epub 2015 Jul 14.


HIF-mediated increased ROS from reduced mitophagy and decreased catalase causes neocytolysis.

Song J, Yoon D, Christensen RD, Horvathova M, Thiagarajan P, Prchal JT.

J Mol Med (Berl). 2015 Aug;93(8):857-66. doi: 10.1007/s00109-015-1294-y.


Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myeloproliferative neoplasm.

Pomicter AD, Eiring AM, Senina AV, Zabriskie MS, Marvin JE, Prchal JT, O'Hare T, Deininger MW.

Exp Hematol. 2015 Jul;43(7):537-45.e1-11. doi: 10.1016/j.exphem.2015.03.006.


End-tidal carbon monoxide as an indicator of the hemolytic rate.

Christensen RD, Lambert DK, Henry E, Yaish HM, Prchal JT.

Blood Cells Mol Dis. 2015 Mar;54(3):292-6. doi: 10.1016/j.bcmd.2014.11.018. Epub 2014 Nov 26.


Complications in children and adolescents with Chuvash polycythemia.

Sergueeva AI, Miasnikova GY, Polyakova LA, Nouraie M, Prchal JT, Gordeuk VR.

Blood. 2015 Jan 8;125(2):414-5. doi: 10.1182/blood-2014-10-604660. No abstract available.


Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Yang C, Hong CS, Prchal JT, Balint MT, Pacak K, Zhuang Z.

Hum Genome Var. 2015 Dec 10;2:15053. doi: 10.1038/hgv.2015.53. eCollection 2015.