Molecular Genetic Pathology
Harvard Medical School
2010
Boston
MA
Publications
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2024 Oct 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
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 Dec; 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 Dec 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