Molecular Genetic Pathology
Harvard Medical School
2010
Boston
MA
Publications
Genomic Profiling of Pediatric Mycosis Fungoides, Lymphomatoid Papulosis, and Primary Cutaneous Anaplastic Large Cell Lymphoma Identifies Recurrent Tyrosine Kinase Gene Fusions. Mod Pathol. 2025 Dec; 38(12):100908. View Abstract
Lymphoid malignancies in patients with Shwachman-Diamond syndrome. Blood. 2025 May 22; 145(21):2528-2532. View Abstract
Intercomparison of Modeled Urban-Scale Vehicle NOx and PM2.5 Emissions-Implications for Equity Assessments. Environ Sci Technol. 2025 Mar 11; 59(9):4560-4570. View Abstract
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2024 10 10; 391(14):1287-1301. View Abstract
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
Mechanistic patterns and clinical implications of oncogenic tyrosine kinase fusions in human cancers. Nat Commun. 2024 Jun 14; 15(1):5110. View Abstract
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
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
Satellite data for environmental justice: a scoping review of the literature in the United States. Environ Res Lett. 2024; 19(3). View Abstract
IKZF1 Alterations and Therapeutic Targeting in B-Cell Acute Lymphoblastic Leukemia. Biomedicines. 2024 Jan 01; 12(1). View Abstract
State-of-the-Science Data and Methods Need to Guide Place-Based Efforts to Reduce Air Pollution Inequity. Environ Health Perspect. 2023 12; 131(12):125003. View Abstract
ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies. Haematologica. 2023 12 01; 108(12):3471-3476. View Abstract
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
Ethnoracial Disparities in Nitrogen Dioxide Pollution in the United States: Comparing Data Sets from Satellites, Models, and Monitors. Environ Sci Technol. 2023 12 05; 57(48):19532-19544. View Abstract
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
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
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
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
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
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
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing. J Mol Diagn. 2021 10; 23(10):1269-1278. View Abstract
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
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
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
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
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
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
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
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
Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms. Histopathology. 2020 Jun; 76(7):1032-1041. View Abstract
Targeting EZH2 for the treatment of hepatosplenic T-cell lymphoma. Blood Adv. 2020 04 14; 4(7):1265-1269. View Abstract
Recurrent and novel USP6 fusions in cranial fasciitis identified by targeted RNA sequencing. Mod Pathol. 2020 05; 33(5):775-780. View Abstract
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
Genetic Testing in the Diagnosis and Biology of Acute Leukemia. Am J Clin Pathol. 2019 08 01; 152(3):322-346. View Abstract
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
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
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
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
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
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
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
Prenatal and childhood exposure to per- and polyfluoroalkyl substances (PFASs) and child cognition. Environ Int. 2018 06; 115:358-369. View Abstract
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
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
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
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
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
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
Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation. Pediatr Dev Pathol. 2017 Mar-Apr; 20(2):105-111. View Abstract
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
Prenatal and childhood traffic-related air pollution exposure and childhood executive function and behavior. Neurotoxicol Teratol. 2016 Sep - Oct; 57:60-70. View Abstract
Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations. Blood. 2016 08 25; 128(8):1093-100. View Abstract
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
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
Clinical, pathologic, and genetic features of Wilms tumors with WTX gene mutation. Pediatr Dev Pathol. 2016 Jan 04. View Abstract
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
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
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
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
Imaging findings in children with proliferative disorders following multivisceral transplantation. Pediatr Radiol. 2015 Jul; 45(8):1138-45. View Abstract
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
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
Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia. Nat Commun. 2014 Mar 24; 5:3469. View Abstract
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
The MLL recombinome of acute leukemias in 2013. Leukemia. 2013 Nov; 27(11):2165-76. View Abstract
Future of clinical genomics in pediatric oncology. J Clin Oncol. 2013 May 20; 31(15):1893-903. View Abstract
Anaplastic large cell lymphoma of the esophagus in a pediatric patient. Pediatr Radiol. 2012 May; 42(5):627-31. View Abstract
MicroRNA miR-125b causes leukemia. Proc Natl Acad Sci U S A. 2010 Dec 14; 107(50):21558-63. View Abstract
SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010 Sep; 55(3):546-9. View Abstract
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010 Jun; 137(11):1907-17. View Abstract
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
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
Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. Nature. 2008 Feb 28; 451(7182):1125-9. View Abstract
Growth factor regulation of autophagy and cell survival in the absence of apoptosis. Cell. 2005 Jan 28; 120(2):237-48. View Abstract
Cytokine stimulation of aerobic glycolysis in hematopoietic cells exceeds proliferative demand. FASEB J. 2004 Aug; 18(11):1303-5. View Abstract
Akt stimulates aerobic glycolysis in cancer cells. Cancer Res. 2004 Jun 01; 64(11):3892-9. View Abstract
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
Mitochondrial membrane potential regulates matrix configuration and cytochrome c release during apoptosis. Cell Death Differ. 2003 Jun; 10(6):709-17. View Abstract
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
Growth factors can influence cell growth and survival through effects on glucose metabolism. Mol Cell Biol. 2001 Sep; 21(17):5899-912. View Abstract
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
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
Role of oxidative phosphorylation in Bax toxicity. Mol Cell Biol. 2000 May; 20(10):3590-6. View Abstract
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
What keeps a resting T cell alive? Cold Spring Harb Symp Quant Biol. 1999; 64:383-7. View Abstract