Current Environment: Production

Medical Services

Programs & Services

Languages

  • English

Education

Undergraduate School

Yale University

1993, New Haven, CT

Medical School

University of Pennsylvania

2003, Philadelphia, PA

Graduate School

PhD

University of Pennsylvania

2004, Philadelphia, PA

Residency

Anatomic Pathology

Brigham and Women's Hospital

2006, Boston, MA

Fellowship

Hematopathology

Brigham and Women's Hospital

2008, Boston, MA

Fellowship

Molecular Genetic Pathology

Harvard Medical School

2010, Boston, MA

Certifications

  • American Board of Pathology (Anatomic Molecular Genetics)
  • American Board of Pathology (Hematopathology)

Publications

  1. Lymphoid malignancies in patients with Shwachman-Diamond syndrome. Blood. 2025 May 22; 145(21):2528-2532. View Abstract

  2. Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2024 10 10; 391(14):1287-1301. View Abstract

  3. Genome-wide study identifies novel genes associated with bone toxicities in children with acute lymphoblastic leukaemia. Br J Haematol. 2024 Nov; 205(5):1889-1898. View Abstract

  4. Mechanistic patterns and clinical implications of oncogenic tyrosine kinase fusions in human cancers. Nat Commun. 2024 Jun 14; 15(1):5110. View Abstract

  5. Acute Promyelocytic Leukemia With Torque Teno Mini Virus::RARA Fusion: An Approach to Screening and Diagnosis. Mod Pathol. 2024 Jul; 37(7):100509. View Abstract

  6. Response to "Comment on 'State-of-the-Science Data and Methods Need to Guide Place-Based Efforts to Reduce Air Pollution Inequity'". Environ Health Perspect. 2024 Mar; 132(3):38002. View Abstract

  7. IKZF1 Alterations and Therapeutic Targeting in B-Cell Acute Lymphoblastic Leukemia. Biomedicines. 2024 Jan 01; 12(1). View Abstract

  8. State-of-the-Science Data and Methods Need to Guide Place-Based Efforts to Reduce Air Pollution Inequity. Environ Health Perspect. 2023 Dec; 131(12):125003. View Abstract

  9. ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies. Haematologica. 2023 12 01; 108(12):3471-3476. View Abstract

  10. Integration of Genomic Sequencing Drives Therapeutic Targeting of PDGFRA in T-Cell Acute Lymphoblastic Leukemia/Lymphoblastic Lymphoma. Clin Cancer Res. 2023 11 14; 29(22):4613-4626. View Abstract

  11. Ethnoracial Disparities in Nitrogen Dioxide Pollution in the United States: Comparing Data Sets from Satellites, Models, and Monitors. Environ Sci Technol. 2023 Dec 05; 57(48):19532-19544. View Abstract

  12. Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors. J Mol Diagn. 2023 09; 25(9):665-681. View Abstract

  13. Plasma concentrations of per- and polyfluoroalkyl substances in pregnancy and breastfeeding duration in Project Viva. Sci Total Environ. 2023 Sep 15; 891:164724. View Abstract

  14. National and Intraurban Air Pollution Exposure Disparity Estimates in the United States: Impact of Data-Aggregation Spatial Scale. Environ Sci Technol Lett. 2022 Sep 13; 9(9):786-791. View Abstract

  15. Allelic complexity of KMT2A partial tandem duplications in acute myeloid leukemia and myelodysplastic syndromes. Blood Adv. 2022 07 26; 6(14):4236-4240. View Abstract

  16. Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer. Nat Med. 2022 08; 28(8):1581-1589. View Abstract

  17. Insights from Application of a Hierarchical Spatio-Temporal Model to an Intensive Urban Black Carbon Monitoring Dataset. Atmos Environ (1994). 2022 May 15; 277. View Abstract

  18. Predictors of thrombosis in children receiving therapy for acute lymphoblastic leukemia: Results from Dana-Farber Cancer Institute ALL Consortium trial 05-001. Pediatr Blood Cancer. 2022 08; 69(8):e29581. View Abstract

  19. Gene Rearrangement Detection in Pediatric Leukemia. Clin Lab Med. 2021 09; 41(3):551-561. View Abstract

  20. Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing. J Mol Diagn. 2021 10; 23(10):1269-1278. View Abstract

  21. Prenatal and childhood exposure to per- and polyfluoroalkyl substances (PFAS) and child executive function and behavioral problems. Environ Res. 2021 11; 202:111621. View Abstract

  22. Efficacy and Toxicity of Pegaspargase and Calaspargase Pegol in Childhood Acute Lymphoblastic Leukemia: Results of DFCI 11-001. J Clin Oncol. 2021 11 01; 39(31):3496-3505. View Abstract

  23. Impact of acute lymphoblastic leukemia induction therapy: findings from metabolomics on non-fasted plasma samples from a biorepository. Metabolomics. 2021 06 27; 17(7):64. View Abstract

  24. Single-cell RNA-seq reveals developmental plasticity with coexisting oncogenic states and immune evasion programs in ETP-ALL. Blood. 2021 05 06; 137(18):2463-2480. View Abstract

  25. Matched Targeted Therapy for Pediatric Patients with Relapsed, Refractory, or High-Risk Leukemias: A Report from the LEAP Consortium. Cancer Discov. 2021 06; 11(6):1424-1439. View Abstract

  26. Genetic ancestry and skeletal toxicities among childhood acute lymphoblastic leukemia patients in the DFCI 05-001 cohort. Blood Adv. 2021 01 26; 5(2):451-458. View Abstract

  27. Corrigendum. Pediatr Blood Cancer. 2021 Mar; 68(3):e28885. View Abstract

  28. Identification of prognostic factors in childhood T-cell acute lymphoblastic leukemia: Results from DFCI ALL Consortium Protocols 05-001 and 11-001. Pediatr Blood Cancer. 2021 01; 68(1):e28719. View Abstract

  29. Making the most of small samples: Optimization of tissue allocation of pediatric solid tumors for clinical and research use. Pediatr Blood Cancer. 2020 09; 67(9):e28326. View Abstract

  30. Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms. Histopathology. 2020 Jun; 76(7):1032-1041. View Abstract

  31. Targeting EZH2 for the treatment of hepatosplenic T-cell lymphoma. Blood Adv. 2020 04 14; 4(7):1265-1269. View Abstract

  32. Recurrent and novel USP6 fusions in cranial fasciitis identified by targeted RNA sequencing. Mod Pathol. 2020 05; 33(5):775-780. View Abstract

  33. Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia. PLoS One. 2019; 14(11):e0221288. View Abstract

  34. A Distinctive Genomic and Immunohistochemical Profile for NOTCH3 and PDGFRB in Myofibroma With Diagnostic and Therapeutic Implications. Int J Surg Pathol. 2020 Apr; 28(2):128-137. View Abstract

  35. Genetic Testing in the Diagnosis and Biology of Acute Leukemia. Am J Clin Pathol. 2019 08 01; 152(3):322-346. View Abstract

  36. High NPM1 mutant allele burden at diagnosis correlates with minimal residual disease at first remission in de novo acute myeloid leukemia. Am J Hematol. 2019 08; 94(8):921-928. View Abstract

  37. Erratum: Prenatal and Childhood Traffic-Related Pollution Exposure and Childhood Cognition in the Project Viva Cohort (Massachusetts, USA). Environ Health Perspect. 2019 Jun; 127(6):69001. View Abstract

  38. Genomic and clinical characterization of B/T mixed phenotype acute leukemia reveals recurrent features and T-ALL like mutations. Am J Hematol. 2018 11; 93(11):1358-1367. View Abstract

  39. Residential Proximity to Major Roadways at Birth, DNA Methylation at Birth and Midchildhood, and Childhood Cognitive Test Scores: Project Viva(Massachusetts, USA). Environ Health Perspect. 2018 09; 126(9):97006. View Abstract

  40. Erratum: "Prenatal Organophosphate Pesticide Exposure and Traits Related to Autism Spectrum Disorders in a Population Living in Proximity to Agriculture". Environ Health Perspect. 2018 07; 126(7):079001. View Abstract

  41. Refining risk classification in childhood B acute lymphoblastic leukemia: results of DFCI ALL Consortium Protocol 05-001. Blood Adv. 2018 06 26; 2(12):1449-1458. View Abstract

  42. Outcome of children and adolescents with Down syndrome treated on Dana-Farber Cancer Institute Acute Lymphoblastic Leukemia Consortium protocols 00-001 and 05-001. Pediatr Blood Cancer. 2018 10; 65(10):e27256. View Abstract

  43. Prenatal and childhood exposure to per- and polyfluoroalkyl substances (PFASs) and child cognition. Environ Int. 2018 06; 115:358-369. View Abstract

  44. Prenatal Organophosphate Pesticide Exposure and Traits Related to Autism Spectrum Disorders in a Population Living in Proximity to Agriculture. Environ Health Perspect. 2018 04 25; 126(4):047012. View Abstract

  45. Phase I trial of the mTOR inhibitor everolimus in combination with multi-agent chemotherapy in relapsed childhood acute lymphoblastic leukemia. Pediatr Blood Cancer. 2018 07; 65(7):e27062. View Abstract

  46. Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia. Leukemia. 2018 10; 32(10):2126-2137. View Abstract

  47. Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia. Blood Adv. 2018 03 13; 2(5):529-533. View Abstract

  48. Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy. Mod Pathol. 2018 03; 31(3):463-473. View Abstract

  49. Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. Neuro Oncol. 2017 Jul 01; 19(7):986-996. View Abstract

  50. Predictors of Per- and Polyfluoroalkyl Substance (PFAS) Plasma Concentrations in 6-10 Year Old American Children. Environ Sci Technol. 2017 May 02; 51(9):5193-5204. View Abstract

  51. Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation. Pediatr Dev Pathol. 2017 Mar-Apr; 20(2):105-111. View Abstract

  52. The Public Repository of Xenografts Enables Discovery and Randomized Phase II-like Trials in Mice. Cancer Cell. 2016 07 11; 30(1):183. View Abstract

  53. Prenatal and childhood traffic-related air pollution exposure and childhood executive function and behavior. Neurotoxicol Teratol. 2016 Sep - Oct; 57:60-70. View Abstract

  54. Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations. Blood. 2016 08 25; 128(8):1093-100. View Abstract

  55. Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study. JAMA Oncol. 2016 May 01; 2(5):608-615. View Abstract

  56. The Public Repository of Xenografts Enables Discovery and Randomized Phase II-like Trials in Mice. Cancer Cell. 2016 04 11; 29(4):574-586. View Abstract

  57. Clinical, pathologic, and genetic features of Wilms tumors with WTX gene mutation. Pediatr Dev Pathol. 2016 Jan 04. View Abstract

  58. Infant Breastfeeding Duration and Mid-Childhood Executive Function, Behavior, and Social-Emotional Development. J Dev Behav Pediatr. 2016 Jan; 37(1):43-52. View Abstract

  59. Intravenous pegylated asparaginase versus intramuscular native Escherichia coli L-asparaginase in newly diagnosed childhood acute lymphoblastic leukaemia (DFCI 05-001): a randomised, open-label phase 3 trial. Lancet Oncol. 2015 Dec; 16(16):1677-90. View Abstract

  60. Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000471. View Abstract

  61. Sociodemographic and Perinatal Predictors of Early Pregnancy Per- and Polyfluoroalkyl Substance (PFAS) Concentrations. Environ Sci Technol. 2015 Oct 06; 49(19):11849-58. View Abstract

  62. Prenatal and Childhood Traffic-Related Pollution Exposure and Childhood Cognition in the Project Viva Cohort (Massachusetts, USA). Environ Health Perspect. 2015 Oct; 123(10):1072-8. View Abstract

  63. Imaging findings in children with proliferative disorders following multivisceral transplantation. Pediatr Radiol. 2015 Jul; 45(8):1138-45. View Abstract

  64. Pediatric aplastic anemia and refractory cytopenia: A retrospective analysis assessing outcomes and histomorphologic predictors. Am J Hematol. 2015 Apr; 90(4):320-6. View Abstract

  65. Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation. Nat Genet. 2014 Jun; 46(6):618-23. View Abstract

  66. Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia. Nat Commun. 2014 Mar 24; 5:3469. View Abstract

  67. c-Myc inhibition prevents leukemia initiation in mice and impairs the growth of relapsed and induction failure pediatric T-ALL cells. Blood. 2014 Feb 13; 123(7):1040-50. View Abstract

  68. The MLL recombinome of acute leukemias in 2013. Leukemia. 2013 Nov; 27(11):2165-76. View Abstract

  69. Future of clinical genomics in pediatric oncology. J Clin Oncol. 2013 May 20; 31(15):1893-903. View Abstract

  70. Pyruvate kinase M2 activators promote tetramer formation and suppress tumorigenesis. Nat Chem Biol. 2012 Oct; 8(10):839-47. View Abstract

  71. Anaplastic large cell lymphoma of the esophagus in a pediatric patient. Pediatr Radiol. 2012 May; 42(5):627-31. View Abstract

  72. MicroRNA miR-125b causes leukemia. Proc Natl Acad Sci U S A. 2010 Dec 14; 107(50):21558-63. View Abstract

  73. SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010 Sep; 55(3):546-9. View Abstract

  74. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010 Jun; 137(11):1907-17. View Abstract

  75. Extranodal natural killer cell/t-cell lymphoma, nasal type, presenting as cutaneous nodules and a small-bowel perforation. Am J Dermatopathol. 2010 Feb; 32(1):83-5. View Abstract

  76. The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth. Nature. 2008 Mar 13; 452(7184):230-3. View Abstract

  77. Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. Nature. 2008 Feb 28; 451(7182):1125-9. View Abstract

  78. Growth factor regulation of autophagy and cell survival in the absence of apoptosis. Cell. 2005 Jan 28; 120(2):237-48. View Abstract

  79. Cytokine stimulation of aerobic glycolysis in hematopoietic cells exceeds proliferative demand. FASEB J. 2004 Aug; 18(11):1303-5. View Abstract

  80. Akt stimulates aerobic glycolysis in cancer cells. Cancer Res. 2004 Jun 01; 64(11):3892-9. View Abstract

  81. The proapoptotic activities of Bax and Bak limit the size of the neural stem cell pool. J Neurosci. 2003 Dec 03; 23(35):11112-9. View Abstract

  82. Mitochondrial membrane potential regulates matrix configuration and cytochrome c release during apoptosis. Cell Death Differ. 2003 Jun; 10(6):709-17. View Abstract

  83. 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

  84. The CD28 signaling pathway regulates glucose metabolism. Immunity. 2002 Jun; 16(6):769-77. View Abstract

  85. Growth factors can influence cell growth and survival through effects on glucose metabolism. Mol Cell Biol. 2001 Sep; 21(17):5899-912. View Abstract

  86. The role of the Bcl-2 family in the regulation of outer mitochondrial membrane permeability. Cell Death Differ. 2000 Dec; 7(12):1182-91. View Abstract

  87. In the absence of extrinsic signals, nutrient utilization by lymphocytes is insufficient to maintain either cell size or viability. Mol Cell. 2000 Sep; 6(3):683-92. View Abstract

  88. Role of oxidative phosphorylation in Bax toxicity. Mol Cell Biol. 2000 May; 20(10):3590-6. View Abstract

  89. The BH3 domain of Bcl-x(S) is required for inhibition of the antiapoptotic function of Bcl-x(L). Mol Cell Biol. 1999 Oct; 19(10):6673-81. View Abstract

  90. What keeps a resting T cell alive? Cold Spring Harb Symp Quant Biol. 1999; 64:383-7. View Abstract
BESbswy