PUBLICATIONS

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  1. Survival and causes of death in 2,033 patients with non-transfusion-dependent ß-thalassemia. Haematologica. 2021 Sep 01; 106(9):2489-2492. View abstract
  2. A unified model of human hemoglobin switching through single-cell genome editing. Nat Commun. 2021 08 17; 12(1):4991. View abstract
  3. CUT&RUNTools 2.0: A pipeline for single-cell and bulk-level CUT&RUN and CUT&Tag data analysis. Bioinformatics. 2021 Jul 09. View abstract
  4. Deciphering transcriptional and functional heterogeneity in hematopoiesis with single-cell genomics. Curr Opin Hematol. 2021 07 01; 28(4):269-276. View abstract
  5. Longitudinal single-cell dynamics of chromatin accessibility and mitochondrial mutations in chronic lymphocytic leukemia mirror disease history. Cancer Discov. 2021 Jun 10. View abstract
  6. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 Jun 07; 218(6). View abstract
  7. Scalable, multimodal profiling of chromatin accessibility, gene expression and protein levels in single cells. Nat Biotechnol. 2021 Jun 03. View abstract
  8. I SPI1 something needed for B cells. J Exp Med. 2021 Jul 05; 218(7). View abstract
  9. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2021 05 01; 106(5):1303-1310. View abstract
  10. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2021 Mar; 591(7851):E27. View abstract
  11. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View abstract
  12. CD11c regulates hematopoietic stem and progenitor cells under stress. Blood Adv. 2020 12 22; 4(24):6086-6097. View abstract
  13. Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation. Med (N Y). 2021 Jan 15; 2(1):33-37.e1. View abstract
  14. Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia. Sci Transl Med. 2020 10 21; 12(566). View abstract
  15. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 10; 586(7831):763-768. View abstract
  16. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. Nature. 2020 10; 586(7831):769-775. View abstract
  17. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147(2):520-531. View abstract
  18. Unraveling Hematopoiesis through the Lens of Genomics. Cell. 2020 09 17; 182(6):1384-1400. View abstract
  19. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020 09 03; 182(5):1214-1231.e11. View abstract
  20. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 2020 09 03; 182(5):1198-1213.e14. View abstract
  21. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. N Engl J Med. 2020 10 15; 383(16):1556-1563. View abstract
  22. Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling. Nat Biotechnol. 2021 04; 39(4):451-461. View abstract
  23. Sowing the Seeds of Clonal Hematopoiesis. Cell Stem Cell. 2020 08 06; 27(2):195-197. View abstract
  24. In The Blood: Connecting Variant to Function In Human Hematopoiesis. Trends Genet. 2020 08; 36(8):563-576. View abstract
  25. COVID-19 presenting with autoimmune hemolytic anemia in the setting of underlying immune dysregulation. Pediatr Blood Cancer. 2020 09; 67(9):e28382. View abstract
  26. Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. J Clin Immunol. 2020 05; 40(4):554-566. View abstract
  27. Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. Nat Genet. 2020 02; 52(2):138-145. View abstract
  28. From blood development to disease: a paradigm for clinical translation. Dis Model Mech. 2020 01 09; 13(1). View abstract
  29. Stabilizing HIF to Ameliorate Anemia. Cell. 2020 01 09; 180(1):6. View abstract
  30. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2020 Jan 02; 130(1):552. View abstract
  31. Longitudinal assessment of clonal mosaicism in human hematopoiesis via mitochondrial mutation tracking. Blood Adv. 2019 12 23; 3(24):4161-4165. View abstract
  32. Antidiabetic Activity of Gold Nanoparticles Synthesized Using Wedelolactone in RIN-5F Cell Line. Antioxidants (Basel). 2019 Dec 21; 9(1). View abstract
  33. The genetics of human hematopoiesis and its disruption in disease. EMBO Mol Med. 2019 08; 11(8):e10316. View abstract
  34. Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia. Pediatr Blood Cancer. 2019 09; 66(9):e27874. View abstract
  35. Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis. Cell Rep. 2019 06 11; 27(11):3228-3240.e7. View abstract
  36. A chance encounter changes everything. Nat Med. 2019 06; 25(6):869. View abstract
  37. Topological control of cytokine receptor signaling induces differential effects in hematopoiesis. Science. 2019 05 24; 364(6442). View abstract
  38. Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis. Elife. 2019 05 09; 8. View abstract
  39. Phloretin loaded chitosan nanoparticles enhance the antioxidants and apoptotic mechanisms in DMBA induced experimental carcinogenesis. Chem Biol Interact. 2019 Aug 01; 308:11-19. View abstract
  40. HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis. Elife. 2019 04 29; 8. View abstract
  41. Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. J Exp Med. 2019 05 06; 216(5):1050-1060. View abstract
  42. Deubiquitylase USP7 regulates human terminal erythroid differentiation by stabilizing GATA1. Haematologica. 2019 11; 104(11):2178-2187. View abstract
  43. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nat Genet. 2019 04; 51(4):683-693. View abstract
  44. Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics. Cell. 2019 03 07; 176(6):1325-1339.e22. View abstract
  45. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View abstract
  46. Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort. Am J Hematol. 2019 05; 94(5):522-527. View abstract
  47. A mummy emerges from the grave: Scurvy confounding the clinical presentation of a child with Fanconi anemia. Am J Hematol. 2019 04; 94(4):506-507. View abstract
  48. Pharmacological Aspects and Potential Use of Phloretin: A Systemic Review. Mini Rev Med Chem. 2019; 19(13):1060-1067. View abstract
  49. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View abstract
  50. A chance to cut (the genome) is a chance to cure. Blood. 2018 04 26; 131(17):1884-1885. View abstract
  51. Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research. Circ Genom Precis Med. 2018 04; 11(4):e002178. View abstract
  52. Common a-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. PLoS Genet. 2018 03; 14(3):e1007293. View abstract
  53. Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation. J Clin Invest. 2018 04 02; 128(4):1597-1614. View abstract
  54. Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. Cell. 2018 03 22; 173(1):90-103.e19. View abstract
  55. Thrombopoietin: tickling the HSC's fancy. EMBO Mol Med. 2018 01; 10(1):10-12. View abstract
  56. Whole-exome sequencing identifies an a-globin cluster triplication resulting in increased clinical severity of ß-thalassemia. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View abstract
  57. Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice. Am J Hematol. 2017 Sep; 92(9):E513-E519. View abstract
  58. Confounding in ex vivo models of Diamond-Blackfan anemia. Blood. 2017 08 31; 130(9):1165-1168. View abstract
  59. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Cell. 2017 03 09; 168(6):1053-1064.e15. View abstract
  60. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proc Natl Acad Sci U S A. 2017 01 17; 114(3):E327-E336. View abstract
  61. Unexpected role for p19INK4d in posttranscriptional regulation of GATA1 and modulation of human terminal erythropoiesis. Blood. 2017 01 12; 129(2):226-237. View abstract
  62. Emerging cellular and gene therapies for congenital anemias. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):332-348. View abstract
  63. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 09 01; 99(3):785. View abstract
  64. Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations. Blood. 2016 10 20; 128(16):2100-2103. View abstract
  65. A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. Blood Cells Mol Dis. 2016 10; 61:46-7. View abstract
  66. The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. Nat Commun. 2016 08 10; 7:12353. View abstract
  67. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 08 04; 99(2):481-8. View abstract
  68. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4):a000885. View abstract
  69. Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis. Exp Hematol. 2016 10; 44(10):947-63. View abstract
  70. Development of autologous blood cell therapies. Exp Hematol. 2016 10; 44(10):887-94. View abstract
  71. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell. 2016 Jun 02; 165(6):1530-1545. View abstract
  72. Defining the Minimal Factors Required for Erythropoiesis through Direct Lineage Conversion. Cell Rep. 2016 06 14; 15(11):2550-62. View abstract
  73. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786. View abstract
  74. Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Proc Natl Acad Sci U S A. 2016 Apr 19; 113(16):4434-9. View abstract
  75. Regulation of the fetal hemoglobin silencing factor BCL11A. Ann N Y Acad Sci. 2016 03; 1368(1):25-30. View abstract
  76. Advances in understanding erythropoiesis: evolving perspectives. Br J Haematol. 2016 Apr; 173(2):206-18. View abstract
  77. Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization. J Mol Diagn. 2016 Jan; 18(1):92-9. View abstract
  78. Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production. Pediatr Res. 2016 Mar; 79(3):366-70. View abstract
  79. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell. 2016 Jan 07; 18(1):73-78. View abstract
  80. Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells. J Clin Invest. 2015 Jun; 125(6):2369-74. View abstract
  81. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest. 2015 Jun; 125(6):2363-8. View abstract
  82. Anemia: progress in molecular mechanisms and therapies. Nat Med. 2015 Mar; 21(3):221-30. View abstract
  83. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2015 Apr; 125(4):1665-9. View abstract
  84. Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. Am J Hematol. 2015 May; 90(5):386-91. View abstract
  85. Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation. PLoS Genet. 2014 Dec; 10(12):e1004890. View abstract
  86. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014 Jul; 20(7):748-53. View abstract
  87. Transcriptional divergence and conservation of human and mouse erythropoiesis. Proc Natl Acad Sci U S A. 2014 Mar 18; 111(11):4103-8. View abstract
  88. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. 2013 Nov 28; 122(23):3845-7. View abstract
  89. Stimulating erythropoiesis in neonates. Am J Hematol. 2013 Nov; 88(11):930-1. View abstract
  90. Applications of high-throughput DNA sequencing to benign hematology. Blood. 2013 Nov 21; 122(22):3575-82. View abstract
  91. Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. Curr Opin Genet Dev. 2013 Jun; 23(3):339-44. View abstract
  92. Clinical experience with fetal hemoglobin induction therapy in patients with ß-thalassemia. Blood. 2013 Mar 21; 121(12):2199-212; quiz 2372. View abstract
  93. The switch from fetal to adult hemoglobin. Cold Spring Harb Perspect Med. 2013 Jan 01; 3(1):a011643. View abstract
  94. Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev. 2012 Sep 15; 26(18):2075-87. View abstract
  95. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012 Jul; 122(7):2439-43. View abstract
  96. MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte-erythroid progenitor lineage commitment. Leukemia. 2012 Nov; 26(11):2310-6. View abstract
  97. Fetal hemoglobin levels and morbidity in untransfused patients with ß-thalassemia intermedia. Blood. 2012 Jan 12; 119(2):364-7. View abstract
  98. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science. 2011 Nov 18; 334(6058):993-6. View abstract
  99. A functional element necessary for fetal hemoglobin silencing. N Engl J Med. 2011 Sep 01; 365(9):807-14. View abstract
  100. Persistence of fetal hemoglobin expression in an older child with trisomy 13. J Pediatr. 2012 Feb; 160(2):352. View abstract
  101. Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin. Blood. 2011 Apr 21; 117(16):4396-7. View abstract
  102. Erythropoietin couples erythropoiesis, B-lymphopoiesis, and bone homeostasis within the bone marrow microenvironment. Blood. 2011 May 26; 117(21):5631-42. View abstract
  103. MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4):1519-24. View abstract
  104. Targeted therapeutic strategies for fetal hemoglobin induction. Hematology Am Soc Hematol Educ Program. 2011; 2011:459-65. View abstract
  105. Therapeutic levels of fetal hemoglobin in erythroid progeny of ß-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer. Blood. 2011 Mar 10; 117(10):2817-26. View abstract
  106. Reversing the hemoglobin switch. N Engl J Med. 2010 Dec 02; 363(23):2258-60. View abstract
  107. Thalassemia: an overview of 50 years of clinical research. Hematol Oncol Clin North Am. 2010 Dec; 24(6):1005-20. View abstract
  108. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010 Dec; 42(12):1049-51. View abstract
  109. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann N Y Acad Sci. 2010 Dec; 1214:47-56. View abstract
  110. Hemoglobin disorders in the developing world: a perspective from Sri Lanka. Am J Hematol. 2010 Sep; 85(9):732. View abstract
  111. Transcriptional silencing of fetal hemoglobin by BCL11A. Ann N Y Acad Sci. 2010 Aug; 1202:64-8. View abstract
  112. Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. Genes Dev. 2010 Apr 15; 24(8):783-98. View abstract
  113. Advances in the understanding of haemoglobin switching. Br J Haematol. 2010 Apr; 149(2):181-94. View abstract
  114. Developmental and species-divergent globin switching are driven by BCL11A. Nature. 2009 Aug 27; 460(7259):1093-7. View abstract
  115. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008 Dec 19; 322(5909):1839-42. View abstract
  116. Rb and hematopoiesis: stem cells to anemia. Cell Div. 2008 Sep 08; 3:13. View abstract
  117. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11869-74. View abstract
  118. Conditional mouse osteosarcoma, dependent on p53 loss and potentiated by loss of Rb, mimics the human disease. Genes Dev. 2008 Jun 15; 22(12):1662-76. View abstract
  119. Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. Genes Dev. 2008 Feb 15; 22(4):463-75. View abstract
  120. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A. 2008 Feb 05; 105(5):1620-5. View abstract
  121. High-affinity binding of a FYVE domain to phosphatidylinositol 3-phosphate requires intact phospholipid but not FYVE domain oligomerization. Biochemistry. 2001 Jul 24; 40(29):8581-7. View abstract
  122. Structural basis for discrimination of 3-phosphoinositides by pleckstrin homology domains. Mol Cell. 2000 Aug; 6(2):373-84. View abstract