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Blood|January 31, 2013
Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomasChunzhang Yang, Michael G Sun, Joey Matro, et al.
Blood Cells, Molecules & Diseases|September 16, 2003
Search for genetic determinants of individual variability of the erythropoietin response to high altitudeKaterina Jedlickova, David W Stockton, Hua Chen, et al.
Haematologica|October 1, 2013
Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defectsSabina Swierczek, Archana M Agarwal, Kubendran Naidoo, et al.
Experimental Hematology|April 28, 2015
Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myeloproliferative neoplasmAnthony D Pomicter, Anna M Eiring, Anna V Senina, et al.
Haematologica|December 7, 2007
Missense mutation of the last nucleotide of exon 1 (G->C) of beta globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild alleleNeeraj Agarwal, Ferdane Kutlar, Mariluz P Mojica-Henshaw, et al.
Nature Communications|February 19, 2025
Alternatively spliced NFKB1 transcripts enriched in Andean Aymara modulate inflammation, HIF and hemoglobinJihyun Song, Seonggyun Han, Ricardo Amaru, et al.
Human Mutation|August 6, 2016
Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene ExpressionN Scott Reading, Claire Shooter, Jihyun Song, et al.
International Journal of Hematology|June 2, 2009
Imatinib mesylate therapy for polycythemia vera: final result of a phase II study initiated in 2001Roberto H Nussenzveig, Jorge Cortes, Matjaz Sever, et al.
Leukemia & Lymphoma|May 31, 2012
Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia veraRoberto H Nussenzveig, Tatiana Burjanivova, Mohamed E Salama, et al.
American Journal of Hematology|January 23, 2026
Autosomal Dominant Erythrocytosis Caused by Non-Renal Erythropoietin (EPO) Due to EPO c.-136 G>A Germline MutationLucie Lanikova, Dusan Hrckulak, Veronika Zimolova, et al.
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