Information

Related Research Units

Dana Farber Boston Childrens Cancer and Blood Disorders Center Research
Hematology and Oncology Research
Sankaran Laboratory Research

Research Overview

Dr. Sankaran is a physician-scientist focused on caring for patients with a variety of blood disorders. Dr. Sankaran’s laboratory uses human genetics to understand blood and immune cell production in health and disease. Dr. Sankaran’s laboratory website is: http://bloodgenes.org.

Education

Medical School

Harvard Medical School
2010

Internship

Pediatrics Boston Children’s Hospital/Boston Medical Center
2011 Boston MA

Residency

Pediatrics Boston Children’s Hospital/Boston Medical Center
2013 Boston MA

Fellowship

Pediatric Hematology-Oncology Dana-Farber Cancer Institute and Boston Children’s Hospital
2015 Boston MA

Media

Research

Gene therapy for sickle cell disease: The journey to a new treatment

Publications

  1. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. HGG Adv. 2025 Apr 15; 6(3):100441. View Abstract
  2. Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes. Science. 2025 04 04; 388(6742):52-59. View Abstract
  3. Inherited resilience to clonal hematopoiesis by modifying stem cell RNA regulation. bioRxiv. 2025 Mar 26. View Abstract
  4. The bleeding edge: broadening horizons for hematopoietic stem cell therapies. Trends Mol Med. 2025 Apr; 31(4):301-303. View Abstract
  5. A torpor-like state in mice slows blood epigenetic aging and prolongs healthspan. Nat Aging. 2025 Mar; 5(3):437-449. View Abstract
  6. Path of differentiation defines human macrophage identity. bioRxiv. 2025 Jan 24. View Abstract
  7. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 Feb 06; 112(2):276-290. View Abstract
  8. CEBPA repression by MECOM blocks differentiation to drive aggressive leukemias. bioRxiv. 2024 Dec 30. View Abstract
  9. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. medRxiv. 2024 Dec 26. View Abstract
  10. Evolution of myeloproliferative neoplasms from normal blood stem cells. Haematologica. 2025 Apr 01; 110(4):840-849. View Abstract
  11. Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss. Nature. 2024 Dec; 636(8043):E7. View Abstract
  12. Disease background influences fate of transplanted stem cells. Nature. 2024 Dec; 636(8041):50-51. View Abstract
  13. Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia. Cell Stem Cell. 2025 Jan 02; 32(1):38-52.e6. View Abstract
  14. Human Plasma Proteomic Profile of Clonal Hematopoiesis. bioRxiv. 2024 Oct 31. View Abstract
  15. Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas. Cell Genom. 2024 Nov 13; 4(11):100692. View Abstract
  16. Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes. bioRxiv. 2024 Sep 09. View Abstract
  17. Robustness and reliability of single-cell regulatory multi-omics with deep mitochondrial mutation profiling. bioRxiv. 2024 Aug 24. View Abstract
  18. Genetic drivers and cellular selection of female mosaic X chromosome loss. Nature. 2024 Jul; 631(8019):134-141. View Abstract
  19. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract
  20. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. medRxiv. 2024 Apr 19. View Abstract
  21. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract
  22. A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. Cell Genom. 2024 Apr 10; 4(4):100526. View Abstract
  23. A torpor-like state (TLS) in mice slows blood epigenetic aging and prolongs healthspan. bioRxiv. 2024 Mar 25. View Abstract
  24. A guideline on the molecular ecosystem regulating ferroptosis. Nat Cell Biol. 2024 Sep; 26(9):1447-1457. View Abstract
  25. Deciphering cell states and genealogies of human haematopoiesis. Nature. 2024 Mar; 627(8003):389-398. View Abstract
  26. Inherited blood cancer predisposition through altered transcription elongation. Cell. 2024 Feb 01; 187(3):642-658.e19. View Abstract
  27. What approaches are needed to understand human development and disease? Dev Cell. 2023 Dec 18; 58(24):2822-2825. View Abstract
  28. Systematic investigation of mitochondrial transfer between cancer cells and T cells at single-cell resolution. Cancer Cell. 2023 10 09; 41(10):1788-1802.e10. View Abstract
  29. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Abstract
  30. Getting an aMPLe grasp on hematopoiesis. Cell. 2023 09 14; 186(19):4005-4006. View Abstract
  31. Shared and distinct genetic etiologies for different types of clonal hematopoiesis. Nat Commun. 2023 09 08; 14(1):5536. View Abstract
  32. Author Correction: Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling. Nat Biotechnol. 2023 Sep; 41(9):1345. View Abstract
  33. A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology. Nat Commun. 2023 08 18; 14(1):5023. View Abstract
  34. RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. Dev Cell. 2023 10 23; 58(20):2112-2127.e4. View Abstract
  35. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
  36. Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. Blood Cells Mol Dis. 2023 11; 103:102782. View Abstract
  37. MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development. J Clin Immunol. 2023 08; 43(6):1052-1066. View Abstract
  38. Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells. Nat Genet. 2023 07; 55(7):1198-1209. View Abstract
  39. Massively parallel base editing to map variant effects in human hematopoiesis. Cell. 2023 05 25; 186(11):2456-2474.e24. View Abstract
  40. Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023 05 01; 6(5):e2312231. View Abstract
  41. Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. Am J Med Genet A. 2023 07; 191(7):1826-1835. View Abstract
  42. CD11c regulates neutrophil maturation. Blood Adv. 2023 04 11; 7(7):1312-1325. View Abstract
  43. Fetal Hemoglobin Regulation in Beta-Thalassemia. Hematol Oncol Clin North Am. 2023 04; 37(2):301-312. View Abstract
  44. Thalassemia. Hematol Oncol Clin North Am. 2023 04; 37(2):xiii-xv. View Abstract
  45. Genetic regulation of fetal hemoglobin across global populations. medRxiv. 2023 Mar 28. View Abstract
  46. RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. medRxiv. 2023 Mar 07. View Abstract
  47. Hacking hematopoiesis - emerging tools for examining variant effects. Dis Model Mech. 2023 03 01; 16(3). View Abstract
  48. Human hematopoietic stem cell vulnerability to ferroptosis. Cell. 2023 02 16; 186(4):732-747.e16. View Abstract
  49. Mitochondrial single-cell ATAC-seq for high-throughput multi-omic detection of mitochondrial genotypes and chromatin accessibility. Nat Protoc. 2023 05; 18(5):1416-1440. View Abstract
  50. Structural variation across 138,134 samples in the TOPMed consortium. Res Sq. 2023 Feb 03. View Abstract
  51. Exploiting somatic mutations to decipher human blood production: a natural lineage-tracing strategy. Exp Hematol. 2023 05; 121:2-5. View Abstract
  52. Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection. medRxiv. 2023 Jan 31. View Abstract
  53. Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv. 2023 Jan 25. View Abstract
  54. A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia. Nat Immunol. 2023 01; 24(1):69-83. View Abstract
  55. Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk. Nat Commun. 2022 Dec 13; 13(1):7725. View Abstract
  56. Development of a Thalassemia International Prognostic Scoring System (TIPSS). Blood Cells Mol Dis. 2023 03; 99:102710. View Abstract
  57. Vade-MECOM: How to peel back the layers of hematopoiesis. Cell Stem Cell. 2022 Nov 03; 29(11):1512-1514. View Abstract
  58. Influences of rare copy-number variation on human complex traits. Cell. 2022 10 27; 185(22):4233-4248.e27. View Abstract
  59. Cellular barcoding to decipher clonal dynamics in disease. Science. 2022 10 14; 378(6616):eabm5874. View Abstract
  60. Multi-omics on our multitudes. Nat Genet. 2022 10; 54(10):1449-1450. View Abstract
  61. Inferring gene regulation from stochastic transcriptional variation across single cells at steady state. Proc Natl Acad Sci U S A. 2022 08 23; 119(34):e2207392119. View Abstract
  62. Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits. Hum Mol Genet. 2022 07 21; 31(14):2333-2347. View Abstract
  63. Variant to function mapping at single-cell resolution through network propagation. Nat Biotechnol. 2022 11; 40(11):1644-1653. View Abstract
  64. Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype. Blood. 2022 05 26; 139(21):3159-3165. View Abstract
  65. Molecular and cellular mechanisms that regulate human erythropoiesis. Blood. 2022 04 21; 139(16):2450-2459. View Abstract
  66. Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1. Blood. 2022 04 21; 139(16):2534-2546. View Abstract
  67. Patchwork Cancer Predisposition. Cancer Discov. 2022 04 01; 12(4):889-891. View Abstract
  68. Genome-wide association study on 13?167 individuals identifies regulators of blood CD34+cell levels. Blood. 2022 03 17; 139(11):1659-1669. View Abstract
  69. A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome. Br J Haematol. 2022 06; 197(6):e88-e93. View Abstract
  70. Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19. medRxiv. 2022 Feb 28. View Abstract
  71. Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations. Nat Biotechnol. 2022 07; 40(7):1030-1034. View Abstract
  72. Clonal hematopoiesis in sickle cell disease. J Clin Invest. 2022 02 15; 132(4). View Abstract
  73. Mapping transcriptomic vector fields of single cells. Cell. 2022 02 17; 185(4):690-711.e45. View Abstract
  74. Super interactive promoters provide insight into cell type-specific regulatory networks in blood lineage cell types. PLoS Genet. 2022 01; 18(1):e1009984. View Abstract
  75. Variant to function mapping at single-cell resolution through network propagation. bioRxiv. 2022 Jan 24. View Abstract
  76. Functional dissection of inherited non-coding variation influencing multiple myeloma risk. Nat Commun. 2022 01 10; 13(1):151. View Abstract
  77. CUT&RUNTools 2.0: a pipeline for single-cell and bulk-level CUT&RUN and CUT&Tag data analysis. Bioinformatics. 2021 12 22; 38(1):252-254. View Abstract
  78. Risk of mortality from anemia and iron overload in nontransfusion-dependent ß-thalassemia. Am J Hematol. 2022 02 01; 97(2):E78-E80. View Abstract
  79. Longitudinal Single-Cell Dynamics of Chromatin Accessibility and Mitochondrial Mutations in Chronic Lymphocytic Leukemia Mirror Disease History. Cancer Discov. 2021 12 01; 11(12):3048-3063. View Abstract
  80. Primary HBB gene mutation severity and long-term outcomes in a global cohort of ß-thalassaemia. Br J Haematol. 2022 01; 196(2):414-423. View Abstract
  81. Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing. PLoS Genet. 2021 10; 17(10):e1009835. View Abstract
  82. From GWAS variant to function: A study of ~148,000 variants for blood cell traits. HGG Adv. 2022 Jan 13; 3(1):100063. View Abstract
  83. Survival and causes of death in 2,033 patients with non-transfusion-dependent ß-thalassemia Haematologica. 2021 09 01; 106(9):2489-2492. View Abstract
  84. A unified model of human hemoglobin switching through single-cell genome editing. Nat Commun. 2021 08 17; 12(1):4991. View Abstract
  85. Deciphering transcriptional and functional heterogeneity in hematopoiesis with single-cell genomics. Curr Opin Hematol. 2021 07 01; 28(4):269-276. View Abstract
  86. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 06 07; 218(6). View Abstract
  87. Scalable, multimodal profiling of chromatin accessibility, gene expression and protein levels in single cells. Nat Biotechnol. 2021 10; 39(10):1246-1258. View Abstract
  88. I SPI1 something needed for B cells. J Exp Med. 2021 07 05; 218(7). View Abstract
  89. 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
  90. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2021 Mar; 591(7851):E27. View Abstract
  91. 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
  92. CD11c regulates hematopoietic stem and progenitor cells under stress. Blood Adv. 2020 12 22; 4(24):6086-6097. View Abstract
  93. Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation. Med. 2021 01 15; 2(1):33-37.e1. View Abstract
  94. Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia. Sci Transl Med. 2020 10 21; 12(566). View Abstract
  95. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. Nature. 2020 10; 586(7831):769-775. View Abstract
  96. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 10; 586(7831):763-768. View Abstract
  97. 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
  98. Unraveling Hematopoiesis through the Lens of Genomics. Cell. 2020 09 17; 182(6):1384-1400. View Abstract
  99. 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
  100. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020 09 03; 182(5):1214-1231.e11. View Abstract
  101. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. N Engl J Med. 2020 10 15; 383(16):1556-1563. View Abstract
  102. Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling. Nat Biotechnol. 2021 04; 39(4):451-461. View Abstract
  103. Sowing the Seeds of Clonal Hematopoiesis. Cell Stem Cell. 2020 08 06; 27(2):195-197. View Abstract
  104. In The Blood: Connecting Variant to Function In Human Hematopoiesis. Trends Genet. 2020 08; 36(8):563-576. View Abstract
  105. COVID-19 presenting with autoimmune hemolytic anemia in the setting of underlying immune dysregulation. Pediatr Blood Cancer. 2020 09; 67(9):e28382. View Abstract
  106. Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. J Clin Immunol. 2020 05; 40(4):554-566. View Abstract
  107. Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. Nat Genet. 2020 02; 52(2):138-145. View Abstract
  108. Stabilizing HIF to Ameliorate Anemia. Cell. 2020 01 09; 180(1):6. View Abstract
  109. From blood development to disease: a paradigm for clinical translation. Dis Model Mech. 2020 01 09; 13(1). View Abstract
  110. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2020 Jan 02; 130(1):552. View Abstract
  111. Longitudinal assessment of clonal mosaicism in human hematopoiesis via mitochondrial mutation tracking. Blood Adv. 2019 12 23; 3(24):4161-4165. View Abstract
  112. Antidiabetic Activity of Gold Nanoparticles Synthesized Using Wedelolactone in RIN-5F Cell Line. Antioxidants (Basel). 2019 Dec 21; 9(1). View Abstract
  113. The genetics of human hematopoiesis and its disruption in disease. EMBO Mol Med. 2019 08; 11(8):e10316. View Abstract
  114. Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia. Pediatr Blood Cancer. 2019 09; 66(9):e27874. View Abstract
  115. Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis. Cell Rep. 2019 06 11; 27(11):3228-3240.e7. View Abstract
  116. A chance encounter changes everything. Nat Med. 2019 06; 25(6):869. View Abstract
  117. Topological control of cytokine receptor signaling induces differential effects in hematopoiesis. Science. 2019 05 24; 364(6442). View Abstract
  118. Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis. Elife. 2019 05 09; 8. View Abstract
  119. 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
  120. HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis. Elife. 2019 04 29; 8. View Abstract
  121. Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. J Exp Med. 2019 05 06; 216(5):1050-1060. View Abstract
  122. Deubiquitylase USP7 regulates human terminal erythroid differentiation by stabilizing GATA1. Haematologica. 2019 11; 104(11):2178-2187. View Abstract
  123. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nat Genet. 2019 04; 51(4):683-693. View Abstract
  124. Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics. Cell. 2019 03 07; 176(6):1325-1339.e22. View Abstract
  125. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View Abstract
  126. 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
  127. 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
  128. Pharmacological Aspects and Potential Use of Phloretin: A Systemic Review. Mini Rev Med Chem. 2019; 19(13):1060-1067. View Abstract
  129. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View Abstract
  130. A chance to cut (the genome) is a chance to cure. Blood. 2018 04 26; 131(17):1884-1885. View Abstract
  131. 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
  132. 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
  133. Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation. J Clin Invest. 2018 04 02; 128(4):1597-1614. View Abstract
  134. Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. Cell. 2018 03 22; 173(1):90-103.e19. View Abstract
  135. Thrombopoietin: tickling the HSC's fancy. EMBO Mol Med. 2018 01; 10(1):10-12. View Abstract
  136. 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
  137. Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice. Am J Hematol. 2017 Sep; 92(9):E513-E519. View Abstract
  138. Confounding in ex vivo models of Diamond-Blackfan anemia. Blood. 2017 08 31; 130(9):1165-1168. View Abstract
  139. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Cell. 2017 03 09; 168(6):1053-1064.e15. View Abstract
  140. 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
  141. 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
  142. Emerging cellular and gene therapies for congenital anemias. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):332-348. View Abstract
  143. 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
  144. Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations. Blood. 2016 10 20; 128(16):2100-2103. View Abstract
  145. 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
  146. The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. Nat Commun. 2016 08 10; 7:12353. View Abstract
  147. 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
  148. 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
  149. Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis. Exp Hematol. 2016 10; 44(10):947-63. View Abstract
  150. Development of autologous blood cell therapies. Exp Hematol. 2016 10; 44(10):887-94. View Abstract
  151. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell. 2016 Jun 02; 165(6):1530-1545. View Abstract
  152. Defining the Minimal Factors Required for Erythropoiesis through Direct Lineage Conversion. Cell Rep. 2016 06 14; 15(11):2550-62. View Abstract
  153. 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
  154. 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
  155. Regulation of the fetal hemoglobin silencing factor BCL11A. Ann N Y Acad Sci. 2016 03; 1368(1):25-30. View Abstract
  156. Advances in understanding erythropoiesis: evolving perspectives. Br J Haematol. 2016 Apr; 173(2):206-18. View Abstract
  157. 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
  158. 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
  159. 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
  160. Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells. J Clin Invest. 2015 Jun; 125(6):2369-74. View Abstract
  161. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest. 2015 Jun; 125(6):2363-8. View Abstract
  162. Anemia: progress in molecular mechanisms and therapies. Nat Med. 2015 Mar; 21(3):221-30. View Abstract
  163. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2015 Apr; 125(4):1665-9. View Abstract
  164. 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
  165. 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
  166. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014 Jul; 20(7):748-53. View Abstract
  167. 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
  168. 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
  169. Stimulating erythropoiesis in neonates. Am J Hematol. 2013 Nov; 88(11):930-1. View Abstract
  170. Applications of high-throughput DNA sequencing to benign hematology. Blood. 2013 Nov 21; 122(22):3575-82. View Abstract
  171. Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. Curr Opin Genet Dev. 2013 Jun; 23(3):339-44. View Abstract
  172. Clinical experience with fetal hemoglobin induction therapy in patients with ß-thalassemia. Blood. 2013 Mar 21; 121(12):2199-212; quiz 2372. View Abstract
  173. The switch from fetal to adult hemoglobin. Cold Spring Harb Perspect Med. 2013 Jan 01; 3(1):a011643. View Abstract
  174. 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
  175. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012 Jul; 122(7):2439-43. View Abstract
  176. MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte-erythroid progenitor lineage commitment. Leukemia. 2012 Nov; 26(11):2310-6. View Abstract
  177. Fetal hemoglobin levels and morbidity in untransfused patients with ß-thalassemia intermedia. Blood. 2012 Jan 12; 119(2):364-7. View Abstract
  178. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science. 2011 Nov 18; 334(6058):993-6. View Abstract
  179. A functional element necessary for fetal hemoglobin silencing. N Engl J Med. 2011 Sep 01; 365(9):807-14. View Abstract
  180. Persistence of fetal hemoglobin expression in an older child with trisomy 13. J Pediatr. 2012 Feb; 160(2):352. View Abstract
  181. 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
  182. Erythropoietin couples erythropoiesis, B-lymphopoiesis, and bone homeostasis within the bone marrow microenvironment. Blood. 2011 May 26; 117(21):5631-42. View Abstract
  183. 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
  184. Targeted therapeutic strategies for fetal hemoglobin induction. Hematology Am Soc Hematol Educ Program. 2011; 2011:459-65. View Abstract
  185. 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
  186. Reversing the hemoglobin switch. N Engl J Med. 2010 Dec 02; 363(23):2258-60. View Abstract
  187. Thalassemia: an overview of 50 years of clinical research. Hematol Oncol Clin North Am. 2010 Dec; 24(6):1005-20. View Abstract
  188. 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
  189. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann N Y Acad Sci. 2010 Dec; 1214:47-56. View Abstract
  190. Hemoglobin disorders in the developing world: a perspective from Sri Lanka. Am J Hematol. 2010 Sep; 85(9):732. View Abstract
  191. Transcriptional silencing of fetal hemoglobin by BCL11A. Ann N Y Acad Sci. 2010 Aug; 1202:64-8. View Abstract
  192. 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
  193. Advances in the understanding of haemoglobin switching. Br J Haematol. 2010 Apr; 149(2):181-94. View Abstract
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