EDUCATION

Medical School

  • University of Pennsylvania , Philadelphia , PA

Internship

  • Boston Children's Hospital , Boston , MA

Residency

Pediatrics
  • Boston Children's Hospital , Boston , MA

Fellowship

Pediatric Hematology/Oncology
  • Boston Children's Hospital/Dana-Farber Cancer Institute , Boston , MA

CERTIFICATIONS

  • American Board of Pediatrics, General Pediatrics
  • American Board of Pediatrics, Pediatric Hematology and Oncology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Editing outside the body: Ex vivo gene-modification for ß-hemoglobinopathy cellular therapy. Mol Ther. 2021 Nov 03; 29(11):3163-3178. View abstract
  2. Clonal hematopoiesis in sickle cell disease. Blood. 2021 Sep 14. View abstract
  3. Targeting leukemia-specific dependence on the de novo purine synthesis pathway. Leukemia. 2021 Aug 03. View abstract
  4. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. Am J Hum Genet. 2021 Jun 03; 108(6):1165. View abstract
  5. Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency. Blood Adv. 2021 05 11; 5(9):2339-2349. View abstract
  6. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. Am J Hum Genet. 2021 05 06; 108(5):874-893. View abstract
  7. ZNF410 represses fetal globin by singular control of CHD4. Nat Genet. 2021 05; 53(5):719-728. View abstract
  8. Author Correction: Transcription factor competition at the ?-globin promoters controls hemoglobin switching. Nat Genet. 2021 Apr; 53(4):586. View abstract
  9. Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation. Genome Med. 2021 03 10; 13(1):41. View abstract
  10. Transcription factor competition at the ?-globin promoters controls hemoglobin switching. Nat Genet. 2021 04; 53(4):511-520. View abstract
  11. Motif-Raptor: A Cell Type-Specific and Transcription Factor Centric Approach for Post-GWAS Prioritization of Causal Regulators. Bioinformatics. 2021 Feb 03. View abstract
  12. Dissecting ELANE neutropenia pathogenicity by human HSC gene editing. Cell Stem Cell. 2021 05 06; 28(5):833-845.e5. View abstract
  13. BCL11A enhancer-edited hematopoietic stem cells persist in rhesus monkeys without toxicity. J Clin Invest. 2020 12 01; 130(12):6677-6687. View abstract
  14. Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits. Nat Genet. 2020 12; 52(12):1333-1345. View abstract
  15. Author Correction: Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity. Nat Biotechnol. 2020 Jul; 38(7):901. View abstract
  16. Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells. Cell Stem Cell. 2020 06 04; 26(6):896-909.e8. View abstract
  17. Therapeutic base editing of human hematopoietic stem cells. Nat Med. 2020 04; 26(4):535-541. View abstract
  18. Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity. Nat Biotechnol. 2020 07; 38(7):883-891. View abstract
  19. End points for sickle cell disease clinical trials: renal and cardiopulmonary, cure, and low-resource settings. Blood Adv. 2019 12 10; 3(23):4002-4020. View abstract
  20. Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia. Blood. 2019 Nov 13; 134(Supplement_1):3. View abstract
  21. Genome editing of HBG1 and HBG2 to induce fetal hemoglobin. Blood Adv. 2019 11 12; 3(21):3379-3392. View abstract
  22. Production of foetal globin in adult monkeys. Nat Biomed Eng. 2019 11; 3(11):857-859. View abstract
  23. Rational targeting of a NuRD subcomplex guided by comprehensive in situ mutagenesis. Nat Genet. 2019 07; 51(7):1149-1159. View abstract
  24. Single-cell cloning of human T-cell lines reveals clonal variation in cell death responses to chemotherapeutics. Cancer Genet. 2019 09; 237:69-77. View abstract
  25. DrugThatGene: integrative analysis to streamline the identification of druggable genes, pathways and protein complexes from CRISPR screens. Bioinformatics. 2019 06 01; 35(11):1981-1984. View abstract
  26. Single-cell trajectories reconstruction, exploration and mapping of omics data with STREAM. Nat Commun. 2019 04 23; 10(1):1903. View abstract
  27. CRISPR-suppressor scanning reveals a nonenzymatic role of LSD1 in AML. Nat Chem Biol. 2019 05; 15(5):529-539. View abstract
  28. Synthetic Lethality of Wnt Pathway Activation and Asparaginase in Drug-Resistant Acute Leukemias. Cancer Cell. 2019 04 15; 35(4):664-676.e7. View abstract
  29. Highly efficient therapeutic gene editing of human hematopoietic stem cells. Nat Med. 2019 05; 25(5):776-783. View abstract
  30. CRISPResso2 provides accurate and rapid genome editing sequence analysis. Nat Biotechnol. 2019 03; 37(3):224-226. View abstract
  31. Editing aberrant splice sites efficiently restores ß-globin expression in ß-thalassemia. Blood. 2019 05 23; 133(21):2255-2262. View abstract
  32. Getting Past HSC Security: Cyclosporine H Gives Lentiviruses an Entry Pass. Cell Stem Cell. 2018 12 06; 23(6):775-776. View abstract
  33. CRISPR-SURF: discovering regulatory elements by deconvolution of CRISPR tiling screen data. Nat Methods. 2018 12; 15(12):992-993. View abstract
  34. FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. J Biol Chem. 2018 12 21; 293(51):19797-19811. View abstract
  35. Emerging Genetic Therapy for Sickle Cell Disease. Annu Rev Med. 2019 01 27; 70:257-271. View abstract
  36. CRISPRO: identification of functional protein coding sequences based on genome editing dense mutagenesis. Genome Biol. 2018 10 19; 19(1):169. View abstract
  37. An APOBEC3A-Cas9 base editor with minimized bystander and off-target activities. Nat Biotechnol. 2018 11; 36(10):977-982. View abstract
  38. AmpUMI: design and analysis of unique molecular identifiers for deep amplicon sequencing. Bioinformatics. 2018 07 01; 34(13):i202-i210. View abstract
  39. Genetic therapies for sickle cell disease. Semin Hematol. 2018 04; 55(2):76-86. View abstract
  40. 14q32 and let-7 microRNAs regulate transcriptional networks in fetal and adult human erythroblasts. Hum Mol Genet. 2018 04 15; 27(8):1411-1420. View abstract
  41. Integrated design, execution, and analysis of arrayed and pooled CRISPR genome-editing experiments. Nat Protoc. 2018 05; 13(5):946-986. View abstract
  42. Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch. Cell. 2018 04 05; 173(2):430-442.e17. View abstract
  43. Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. Cancer Cell. 2018 03 12; 33(3):386-400.e5. View abstract
  44. Growing and Genetically Manipulating Human Umbilical Cord Blood-Derived Erythroid Progenitor (HUDEP) Cell Lines. Methods Mol Biol. 2018; 1698:275-284. View abstract
  45. Recent progress in understanding and manipulating haemoglobin switching for the haemoglobinopathies. Br J Haematol. 2018 03; 180(5):630-643. View abstract
  46. Curative approaches for sickle cell disease: A review of allogeneic and autologous strategies. Blood Cells Mol Dis. 2017 09; 67:155-168. View abstract
  47. Gene Therapy. Hematol Oncol Clin North Am. 2017 10; 31(5):xiii-xiv. View abstract
  48. Technical considerations for the use of CRISPR/Cas9 in hematology research. Exp Hematol. 2017 10; 54:4-11. View abstract
  49. An erythroid-specific ATP2B4 enhancer mediates red blood cell hydration and malaria susceptibility. J Clin Invest. 2017 Aug 01; 127(8):3065-3074. View abstract
  50. Quantitative assessment of timing, efficiency, specificity and genetic mosaicism of CRISPR/Cas9-mediated gene editing of hemoglobin beta gene in rhesus monkey embryos. Hum Mol Genet. 2017 07 15; 26(14):2678-2689. View abstract
  51. Erythropoietin signaling regulates heme biosynthesis. Elife. 2017 05 29; 6. View abstract
  52. Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. PLoS Genet. 2017 04; 13(4):e1006760. View abstract
  53. Functional interrogation of non-coding DNA through CRISPR genome editing. Methods. 2017 05 15; 121-122:118-129. View abstract
  54. Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet. 2017 Apr; 49(4):625-634. View abstract
  55. Strict in vivo specificity of the Bcl11a erythroid enhancer. Blood. 2016 11 10; 128(19):2338-2342. View abstract
  56. Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype. J Clin Invest. 2016 10 03; 126(10):3868-3878. View abstract
  57. Intensive treatment and survival outcomes in NUT midline carcinoma of the head and neck. Cancer. 2016 Dec 01; 122(23):3632-3640. View abstract
  58. Forward genetic screen of human transposase genomic rearrangements. BMC Genomics. 2016 Aug 04; 17:548. View abstract
  59. Analyzing CRISPR genome-editing experiments with CRISPResso. Nat Biotechnol. 2016 07 12; 34(7):695-7. View abstract
  60. Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies. Lancet. 2016 Jun 18; 387(10037):2554-64. View abstract
  61. A genome editing primer for the hematologist. Blood. 2016 05 26; 127(21):2525-35. View abstract
  62. Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin. Science. 2016 Jan 15; 351(6270):285-9. View abstract
  63. Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease. Blood. 2016 Feb 18; 127(7):839-48. View abstract
  64. Hematopoietic stem cells develop in the absence of endothelial cadherin 5 expression. Blood. 2015 Dec 24; 126(26):2811-20. View abstract
  65. BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. Nature. 2015 Nov 12; 527(7577):192-7. View abstract
  66. Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev. 2015 Aug; 33:62-70. View abstract
  67. Functional footprinting of regulatory DNA. Nat Methods. 2015 Oct; 12(10):927-30. View abstract
  68. EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression. Blood. 2015 Oct 15; 126(16):1930-9. View abstract
  69. miRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction. Mol Ther. 2015 Sep; 23(9):1465-74. View abstract
  70. Embryonic stem cells as sources of donor-independent platelets. J Clin Invest. 2015 Jun; 125(6):2261-3. View abstract
  71. The mTORC1/4E-BP pathway coordinates hemoglobin production with L-leucine availability. Sci Signal. 2015 Apr 14; 8(372):ra34. View abstract
  72. Generation of genomic deletions in mammalian cell lines via CRISPR/Cas9. J Vis Exp. 2015 Jan 03; (95):e52118. View abstract
  73. TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest. 2014 Oct; 124(10):4294-304. View abstract
  74. Characterization of genomic deletion efficiency mediated by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells. J Biol Chem. 2014 08 01; 289(31):21312-24. View abstract
  75. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science. 2013 Oct 11; 342(6155):253-7. View abstract
  76. Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A. Proc Natl Acad Sci U S A. 2013 Apr 16; 110(16):6518-23. View abstract
  77. Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis. Dev Cell. 2012 Oct 16; 23(4):796-811. View abstract
  78. 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
  79. Reawakening fetal hemoglobin: prospects for new therapies for the ß-globin disorders. Blood. 2012 Oct 11; 120(15):2945-53. View abstract
  80. Clinicopathologic features and long-term outcomes of NUT midline carcinoma. Clin Cancer Res. 2012 Oct 15; 18(20):5773-9. View abstract
  81. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. Am J Physiol Cell Physiol. 2011 Dec; 301(6):C1325-43. View abstract
  82. Differentiation of NUT midline carcinoma by epigenomic reprogramming. Cancer Res. 2011 Apr 01; 71(7):2686-96. View abstract
  83. Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr. 2011 Feb; 23(1):1-8. View abstract
  84. BRD4-NUT carcinoma of the mediastinum in a pediatric patient: multidetector computed tomography imaging findings. J Thorac Imaging. 2010 Aug; 25(3):W93-6. View abstract
  85. ATP citrate lyase inhibition can suppress tumor cell growth. Cancer Cell. 2005 Oct; 8(4):311-21. View abstract
  86. ATP citrate lyase is an important component of cell growth and transformation. Oncogene. 2005 Sep 15; 24(41):6314-22. View abstract
  87. The glucose dependence of Akt-transformed cells can be reversed by pharmacologic activation of fatty acid beta-oxidation. Oncogene. 2005 Jun 16; 24(26):4165-73. View abstract
  88. Growth factor regulation of autophagy and cell survival in the absence of apoptosis. Cell. 2005 Jan 28; 120(2):237-48. View abstract
  89. Cytokine stimulation of aerobic glycolysis in hematopoietic cells exceeds proliferative demand. FASEB J. 2004 Aug; 18(11):1303-5. View abstract
  90. Akt stimulates aerobic glycolysis in cancer cells. Cancer Res. 2004 Jun 01; 64(11):3892-9. View abstract
  91. Alkylating DNA damage stimulates a regulated form of necrotic cell death. Genes Dev. 2004 Jun 01; 18(11):1272-82. View abstract
  92. Bcl-x(L) complements Saccharomyces cerevisiae genes that facilitate the switch from glycolytic to oxidative metabolism. J Biol Chem. 2002 Nov 22; 277(47):44870-6. View abstract
  93. Safety and immunogenicity of ALVAC vCP1452 and recombinant gp160 in newly human immunodeficiency virus type 1-infected patients treated with prolonged highly active antiretroviral therapy. J Virol. 2002 Mar; 76(5):2206-16. View abstract
  94. Recruitment of SLP-76 to the membrane and glycolipid-enriched membrane microdomains replaces the requirement for linker for activation of T cells in T cell receptor signaling. J Exp Med. 2000 Oct 02; 192(7):1047-58. View abstract
  95. Analysis of altered gene expression by differential display. Methods Enzymol. 1995; 254:304-21. View abstract