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Jaclyn A. Biegel, PhD

Professor of Pathology (Clinical Scholar)

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Email jbiegel@usc.edu
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Publications

  • Distinct Mitochondrial DNA Deletion Profiles in Pediatric B- and T-ALL During Diagnosis, Remission, and Relapse. Int J Mol Sci. 2025 Jul 23; 26(15).. View in PubMed
  • SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity. Res Sq. 2025 Mar 26.. View in PubMed
  • Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. NPJ Genom Med. 2025 Feb 21; 10(1):16.. View in PubMed
  • Low-Pass Whole Genome Sequencing of Cell-Free DNA from Cerebrospinal Fluid: A Focus on Pediatric Central Nervous System Tumors. Clin Chem. 2025 Jan 03; 71(1):87-96.. View in PubMed
  • Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing. Front Genet. 2025; 16:1574325.. View in PubMed
  • Correction: Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing. Front Genet. 2025; 16:1639666.. View in PubMed
  • Pediatric Chordoma: A Tale of Two Genomes. Mol Cancer Res. 2024 08 02; 22(8):721-729.. View in PubMed
  • Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress. Am J Ophthalmol. 2024 07; 263:188-205.. View in PubMed
  • Detection of pretreatment circulating tumor DNA as a biomarker of poor outcome in intermediate-risk rhabdomyosarcoma. Transl Pediatr. 2024 May 31; 13(5):869-872.. View in PubMed
  • Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 05; 26(5):337-348.. View in PubMed
  • Disease Evolution Monitored by Serial Cerebrospinal Fluid Liquid Biopsies in Two Cases of Recurrent Medulloblastoma. Int J Mol Sci. 2024 Apr 30; 25(9).. View in PubMed
  • Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma. Mod Pathol. 2024 Feb; 37(2):100385.. View in PubMed
  • An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors. J Mol Diagn. 2024 02; 26(2):127-139.. View in PubMed
  • Targeted detection of sequence variants in cell-free DNA from cerebrospinal fluid in pediatric central nervous system tumors. Front Oncol. 2024; 14:1513073.. View in PubMed
  • Rhabdoid tumors in patients conceived following ART: is there an association? Hum Reprod. 2023 10 03; 38(10):2028-2038.. View in PubMed
  • Addendum: Sustained response of three pediatric BRAFV600E mutated high-grade gliomas to combined BRAF and MEK inhibitor therapy. Oncotarget. 2023 May 19; 14:502.. View in PubMed
  • Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors. NPJ Precis Oncol. 2023 Feb 20; 7(1):21.. View in PubMed
  • Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors. Neurooncol Adv. 2023 Jan-Dec; 5(1):vdad077.. View in PubMed
  • Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA. Ophthalmic Genet. 2022 12; 43(6):855-861.. View in PubMed
  • Mitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma. Mitochondrion. 2022 11; 67:6-14.. View in PubMed
  • Meeting the high expectations for liquid biopsy assays for pediatric brain tumors: Progress and challenges. Neuro Oncol. 2022 08 01; 24(8):1364-1365.. View in PubMed
  • Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping. Blood Adv. 2022 06 14; 6(11):3343-3346.. View in PubMed
  • Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma. Int J Mol Sci. 2022 Jun 02; 23(11).. View in PubMed
  • Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells. Int J Surg Pathol. 2022 May; 30(3):307-312.. View in PubMed
  • Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review. Int J Surg Pathol. 2022 Apr; 30(2):172-176.. View in PubMed
  • Rapidly emerging SARS-CoV-2 B.1.1.7 sub-lineage in the United States of America with spike protein D178H and membrane protein V70L mutations. Emerg Microbes Infect. 2021 Dec; 10(1):1293-1299.. View in PubMed
  • Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications. Emerg Microbes Infect. 2021 Dec; 10(1):885-893.. View in PubMed
  • Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy. NPJ Precis Oncol. 2021 Jul 27; 5(1):73.. View in PubMed
  • High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19. Open Forum Infect Dis. 2021 Jun; 8(6):ofaa551.. View in PubMed
  • A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies. Cancer Genet. 2021 06; 254-255:25-33.. View in PubMed
  • Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series. EBioMedicine. 2021 May; 67:103355.. View in PubMed
  • Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. Cancers (Basel). 2021 Mar 13; 13(6).. View in PubMed
  • Persistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity. medRxiv. 2021 Mar 02.. View in PubMed
  • Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab037.. View in PubMed
  • The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab074.. View in PubMed
  • Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care. Pediatr Neurol. 2021 01; 114:55-59.. View in PubMed
  • Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children’s Oncology Group Trial ACNS0333. J Clin Oncol. 2020 04 10; 38(11):1175-1185.. View in PubMed
  • Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods. Mitochondrion. 2020 03; 51:97-103.. View in PubMed
  • Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy. J Vitreoretin Dis. 2020 Jan-Feb; 4(1):69-74.. View in PubMed
  • Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country. Front Microbiol. 2020; 11:573430.. View in PubMed
  • Expanding the spectrum of dicer1-associated sarcomas. Mod Pathol. 2020 01; 33(1):164-174.. View in PubMed
  • Novel TRIM24-MET Fusion in a Neonatal Brain Tumor. JCO Precis Oncol. 2019 Dec; 3:1-6.. View in PubMed
  • Germline genetic landscape of pediatric central nervous system tumors. Neuro Oncol. 2019 11 04; 21(11):1376-1388.. View in PubMed
  • Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). Genet Med. 2019 09; 21(9):1903-1916.. View in PubMed
  • Pediatric Atypical Teratoid/Rhabdoid Tumors of the Brain: Identification of Metabolic Subgroups Using In Vivo 1H-MR Spectroscopy. AJNR Am J Neuroradiol. 2019 05; 40(5):872-877.. View in PubMed
  • Case-based review: atypical teratoid/rhabdoid tumor. Neurooncol Pract. 2019 May; 6(3):163-178.. View in PubMed
  • A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud. 2019 04; 5(2).. View in PubMed
  • Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. Cancer Res. 2019 04 01; 79(7):1318-1330.. View in PubMed
  • The genomic landscape of pediatric cancers: Implications for diagnosis and treatment. Science. 2019 03 15; 363(6432):1170-1175.. View in PubMed
  • Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. Cancer Genet. 2019 02; 231-232:62-66.. View in PubMed
  • Sustained response of three pediatric BRAFV600E mutated high-grade gliomas to combined BRAF and MEK inhibitor therapy. Oncotarget. 2019 Jan 11; 10(4):551-557.. View in PubMed
  • Rare Pediatric Invasive Gliofibroma Has BRAFV600E Mutation and Transiently Responds to Targeted Therapy Before Progressive Clonal Evolution. JCO Precis Oncol. 2019; 3.. View in PubMed
  • OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 11; 20(6):765-776.. View in PubMed
  • Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies. JNCI Cancer Spectr. 2018 Oct; 2(4):pky079.. View in PubMed
  • Three synchronous malignancies in a patient with DICER1 syndrome. Eur J Cancer. 2018 04; 93:140-143.. View in PubMed
  • Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner. Cold Spring Harb Mol Case Stud. 2018 04; 4(2).. View in PubMed
  • Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications. Blood Adv. 2017 Oct 10; 1(22):1900-1910.. View in PubMed
  • Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients. Genes Chromosomes Cancer. 2017 10; 56(10):730-749.. View in PubMed
  • Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation. Pediatr Blood Cancer. 2017 Sep; 64(9).. View in PubMed
  • Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor. J Neurosurg Pediatr. 2017 Jul; 20(1):51-55.. View in PubMed
  • Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. Am J Med Genet A. 2017 May; 173(5):1390-1395.. View in PubMed
  • SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation. Nat Genet. 2017 Feb; 49(2):289-295.. View in PubMed
  • Clonal hematopoiesis in patients with dyskeratosis congenita. Am J Hematol. 2016 12; 91(12):1227-1233.. View in PubMed
  • Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings. Pediatr Blood Cancer. 2016 07; 63(7):1175-80.. View in PubMed
  • Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. Neuro Oncol. 2016 06; 18(6):764-78.. View in PubMed
  • Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. J Neuropathol Exp Neurol. 2016 Apr; 75(4):306-15.. View in PubMed
  • Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. Oncotarget. 2016 Jan 12; 7(2):1732-40.. View in PubMed
  • Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. Cancer Genet. 2016 Jan-Feb; 209(1-2):1-10.. View in PubMed
  • Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. Am J Med Genet A. 2015 Dec; 167A(12):3186-91.. View in PubMed
  • A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays. Cancer Genet. 2015 Nov; 208(11):525-36.. View in PubMed
  • SMARCB1-deficient Vulvar Neoplasms: A Clinicopathologic, Immunohistochemical, and Molecular Genetic Study of 14 Cases. Am J Surg Pathol. 2015 Jun; 39(6):836-49.. View in PubMed
  • Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia. Cancer Genet. 2015 Apr; 208(4):115-28.. View in PubMed
  • Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas. Brain Pathol. 2015 Mar; 25(2):182-92.. View in PubMed
  • Disrupting LIN28 in atypical teratoid rhabdoid tumors reveals the importance of the mitogen activated protein kinase pathway as a therapeutic target. Oncotarget. 2015 Feb 20; 6(5):3165-77.. View in PubMed
  • Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog. 2015; 20(3-4):199-216.. View in PubMed
  • Mixed Phenotype Acute Leukemia with Low Hypodiploidy in a Pediatric Patient. J Pediatr Oncol. 2015; 3(1):24-28.. View in PubMed
  • Integration of cytogenomic data for furthering the characterization of pediatric B-cell acute lymphoblastic leukemia: a multi-institution, multi-platform microarray study. Cancer Genet. 2015 Jan-Feb; 208(1-2):1-18.. View in PubMed
  • Introduction from the editor. Cancer Genet. 2014 Sep; 207(9):345.. View in PubMed
  • SWI/SNF chromatin remodeling complexes and cancer. Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):350-66.. View in PubMed
  • Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion. Cancer Genet. 2014 Sep; 207(9):415-9.. View in PubMed
  • CLL/SLL diagnosed in an adolescent. Pediatr Blood Cancer. 2014 Jun; 61(6):1107-10.. View in PubMed
  • Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor. Cancer Genet. 2014 Apr; 207(4):153-9.. View in PubMed
  • Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors. Cancer Genet. 2014 Apr; 207(4):111-23.. View in PubMed
  • Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol. 2014 Jan; 164(1):73-82.. View in PubMed
  • Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients. Am J Hematol. 2013 Oct; 88(10):862-7.. View in PubMed
  • Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature. 2013 Jul 11; 499(7457):214-218.. View in PubMed
  • Cribriform neuroepithelial tumor arising in the lateral ventricle. Pediatr Dev Pathol. 2013 Jul-Aug; 16(4):301-7.. View in PubMed
  • Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A. 2013 May; 161A(5):993-1001.. View in PubMed
  • Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions. Mod Pathol. 2013 Mar; 26(3):385-92.. View in PubMed
  • Proximal-type Epithelioid Sarcoma of the Head and Neck (HN): A Study with Immunohistochemical and Molecular Analysis of SMARCB1. J Clin Exp Oncol. 2013; 2(2).. View in PubMed
  • Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer. 2012 Dec 15; 59(7):1155-7.. View in PubMed
  • Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. Ann Diagn Pathol. 2012 Dec; 16(6):504-7.. View in PubMed
  • Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. Br J Haematol. 2012 Nov; 159(4):480-2.. View in PubMed
  • A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest. 2012 Aug; 122(8):2983-8.. View in PubMed
  • Definition of genetic events directing the development of distinct types of brain tumors from postnatal neural stem/progenitor cells. Cancer Res. 2012 Jul 01; 72(13):3381-92.. View in PubMed
  • Novel cell lines established from pediatric brain tumors. J Neurooncol. 2012 Apr; 107(2):269-80.. View in PubMed
  • Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. Cancer Genet. 2012 Jan-Feb; 205(1-2):42-54.. View in PubMed
  • Claudin-6 is a nonspecific marker for malignant rhabdoid and other pediatric tumors. Am J Surg Pathol. 2012 Jan; 36(1):73-80.. View in PubMed
  • Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with “neuroblastoma-like” schwannomatosis and a novel germline SMARCB1 mutation. Am J Surg Pathol. 2012 Jan; 36(1):154-60.. View in PubMed
  • Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis. 2011 Nov-Dec; 6(6):592-602.. View in PubMed
  • Ganglioglioma arising from dysplastic cortex. Epilepsia. 2011 Sep; 52(9):e106-8.. View in PubMed
  • Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma. Clin Neuropathol. 2011 Sep-Oct; 30(5):235-41.. View in PubMed
  • p16INK4A and p14ARF tumor suppressor pathways are deregulated in malignant rhabdoid tumors. J Neuropathol Exp Neurol. 2011 Jul; 70(7):596-609.. View in PubMed
  • Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011 Jul 01; 56(7):1026-31.. View in PubMed
  • Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome. J Neurooncol. 2011 May; 102(3):509-14.. View in PubMed
  • Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr. 2011 Mar; 170(3):285-94.. View in PubMed
  • The genetic landscape of the childhood cancer medulloblastoma. Science. 2011 Jan 28; 331(6016):435-9.. View in PubMed
  • Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011 Jan; 56(1):7-15.. View in PubMed
  • Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25.. View in PubMed
  • Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer Genet. 2011 Jan; 204(1):26-38.. View in PubMed
  • Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. Neuro Oncol. 2010 Jul; 12(7):621-30.. View in PubMed
  • High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2010 May; 98(1):117-23.. View in PubMed
  • ZNF238 is expressed in postmitotic brain cells and inhibits brain tumor growth. Cancer Res. 2010 Feb 01; 70(3):1236-46.. View in PubMed
  • Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor. J Neurosurg Pediatr. 2010 Jan; 5(1):75-9.. View in PubMed
  • A robust xenotransplantation model for acute myeloid leukemia. Leukemia. 2009 Nov; 23(11):2109-17.. View in PubMed
  • ALK expression in rhabdomyosarcomas: correlation with histologic subtype and fusion status. Pediatr Dev Pathol. 2009 Jul-Aug; 12(4):275-83.. View in PubMed
  • Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain Pathol. 2009 Jul; 19(3):449-58.. View in PubMed
  • Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. Am J Med Genet A. 2009 May; 149A(5):1067-9.. View in PubMed
  • Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res. 2009 Mar 15; 15(6):1923-30.. View in PubMed
  • The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009 Mar; 8(5):412-6.. View in PubMed
  • SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. 2009 Mar; 52(3):312-3.. View in PubMed
  • Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. Genome Res. 2009 Feb; 19(2):276-83.. View in PubMed
  • Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009 Jan 20; 27(3):385-9.. View in PubMed
  • Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol. 2009 Jan-Feb; 28(1):1-10.. View in PubMed
  • Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet. 2009 Jan; 46(1):68-72.. View in PubMed
  • Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. Mod Pathol. 2009 Jan; 22(1):142-50.. View in PubMed
  • Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. PLoS One. 2009; 4(2):e4482.. View in PubMed
  • Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol. 2008 Oct; 28(20):6223-33.. View in PubMed
  • Atypical teratoid/rhabdoid tumor arising from the third cranial nerve. J Neuroophthalmol. 2008 Sep; 28(3):207-11.. View in PubMed
  • Dramatic response of acute monoblastic leukemia to a single dose of docetaxel. Leuk Lymphoma. 2008 Mar; 49(3):577-80.. View in PubMed
  • Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2008 Mar; 29(3):433-40.. View in PubMed
  • Oncolytic efficacy of recombinant vesicular stomatitis virus and myxoma virus in experimental models of rhabdoid tumors. Clin Cancer Res. 2008 Feb 15; 14(4):1218-27.. View in PubMed
  • High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet. 2007 Sep; 122(2):117-27.. View in PubMed
  • Malignant rhabdoid tumor mimicking hepatoblastoma: a case report and literature review. Pediatr Dev Pathol. 2007 Sep-Oct; 10(5):409-15.. View in PubMed
  • Prediction of oligodendroglial tumor subtype and grade using perfusion weighted magnetic resonance imaging. J Neurosurg. 2007 Sep; 107(3):600-9.. View in PubMed
  • Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol. 2007 Sep; 84(2):217-22.. View in PubMed
  • Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol. 2007 Aug; 84(1):49-55.. View in PubMed
  • Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2007 Aug 01; 143A(15):1767-70.. View in PubMed
  • Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2007 Jul; 46(7):684-93.. View in PubMed
  • Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. Hum Pathol. 2007 Jun; 38(6):935-9.. View in PubMed
  • P-Akt expression distinguishes two types of malignant rhabdoid tumors. J Cell Physiol. 2006 Nov; 209(2):422-7.. View in PubMed
  • Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer. 2006 Sep; 47(3):279-84.. View in PubMed
  • Parental heat exposure and risk of childhood brain tumor: a Children’s Oncology Group study. Am J Epidemiol. 2006 Aug 01; 164(3):222-31.. View in PubMed
  • Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol. 2006 May; 27(5):962-71.. View in PubMed
  • Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006 Jan 15; 20(1):E11.. View in PubMed
  • Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro Oncol. 2006 Jan; 8(1):79-82.. View in PubMed
  • Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17745-50.. View in PubMed
  • High-resolution detection and mapping of genomic DNA alterations in neuroblastoma. Genes Chromosomes Cancer. 2005 Aug; 43(4):390-403.. View in PubMed
  • Isochromosome 17q is a negative prognostic factor in poor-risk childhood medulloblastoma patients. Clin Cancer Res. 2005 Jul 01; 11(13):4733-40.. View in PubMed
  • INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol. 2005 Jul; 18(7):951-8.. View in PubMed
  • Chromophobe renal cell carcinoma in a pediatric living-related kidney transplant recipient. Am J Kidney Dis. 2005 Jun; 45(6):e105-8.. View in PubMed
  • INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol. 2005 May; 64(5):391-7.. View in PubMed
  • Early molecular detection of central nervous system relapse in a child with systemic anaplastic large cell lymphoma: case report and review of the literature. Pediatr Blood Cancer. 2005 Apr; 44(4):400-6.. View in PubMed
  • Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol. 2005 Jan; 15(1):23-8.. View in PubMed
  • Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol. 2004 Nov; 28(11):1485-91.. View in PubMed
  • Molecular analysis of pediatric brain tumors. Curr Oncol Rep. 2004 Nov; 6(6):445-52.. View in PubMed
  • Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004 Jul 15; 22(14):2877-84.. View in PubMed
  • Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004 May; 28(5):644-50.. View in PubMed
  • TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin’s disease with second primary neoplasms. J Clin Oncol. 2003 Dec 15; 21(24):4505-9.. View in PubMed
  • Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res. 2002 Nov; 8(11):3461-7.. View in PubMed
  • No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors. Genes Chromosomes Cancer. 2002 Aug; 34(4):398-405.. View in PubMed
  • Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol. 2002 Jun-Jul; 24(5):337-42.. View in PubMed
  • Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6. Proc Natl Acad Sci U S A. 2002 Apr 02; 99(7):4568-73.. View in PubMed
  • Risk assignment in childhood brain tumors: the emerging role of molecular and biologic classification. Curr Oncol Rep. 2002 Mar; 4(2):114-22.. View in PubMed
  • Prediction of central nervous system embryonal tumour outcome based on gene expression. Nature. 2002 Jan 24; 415(6870):436-42.. View in PubMed
  • The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res. 2002 Jan 01; 62(1):323-8.. View in PubMed
  • Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males. Mol Ther. 2001 Dec; 4(6):586-92.. View in PubMed
  • Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation. Hum Pathol. 2001 Aug; 32(8):884-6.. View in PubMed
  • Detailed molecular analysis of 1p36 in neuroblastoma. Med Pediatr Oncol. 2001 Jan; 36(1):37-41.. View in PubMed
  • Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neuroectodermal tumors of the central nervous system. Clin Cancer Res. 2000 Jul; 6(7):2759-63.. View in PubMed
  • Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer. 2000 May; 28(1):31-7.. View in PubMed
  • TrkC expression predicts good clinical outcome in primitive neuroectodermal brain tumors. J Clin Oncol. 2000 Mar; 18(5):1027-35.. View in PubMed
  • Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2. Gene. 2000 Jan 04; 241(1):133-41.. View in PubMed
  • Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma. Genes Chromosomes Cancer. 2000 Jan; 27(1):44-51.. View in PubMed
  • Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes. J Cell Sci. 1999 Sep; 112 Pt 18:3039-47.. View in PubMed
  • Cytogenetics and molecular genetics of childhood brain tumors. Neuro Oncol. 1999 04; 1(2):139-51.. View in PubMed
  • Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am J Surg Pathol. 1999 Mar; 23(3):249-56.. View in PubMed
  • Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999 Jan 01; 59(1):74-9.. View in PubMed
  • Establishment and molecular characterization of five cell lines derived from renal and extrarenal malignant rhabdoid tumors. Mod Pathol. 1998 Dec; 11(12):1228-37.. View in PubMed
  • Molecular cytogenetic studies of pediatric ependymomas. J Neurooncol. 1998 Mar; 37(1):25-33.. View in PubMed
  • A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), and enhanced MYC expression in the absence of gene amplification. Cancer Genet Cytogenet. 1998 Jan 15; 100(2):159-64.. View in PubMed
  • Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and reassignment of SLC2A5 to 1p36.2. Cytogenet Cell Genet. 1998; 81(1):60-4.. View in PubMed
  • Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. Hum Genet. 1997 Dec; 101(3):277-83.. View in PubMed
  • Genetics of pediatric central nervous system tumors. J Pediatr Hematol Oncol. 1997 Nov-Dec; 19(6):492-501.. View in PubMed
  • Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma. Eur J Cancer. 1997 Oct; 33(12):1957-61.. View in PubMed
  • Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? Eur J Cancer. 1997 Oct; 33(12):1991-6.. View in PubMed
  • Molecular genetic analysis of familial neuroblastoma. Eur J Cancer. 1997 Oct; 33(12):1923-8.. View in PubMed
  • Mutation analysis and loss of heterozygosity of PEDF in central nervous system primitive neuroectodermal tumors. Int J Cancer. 1997 Jul 17; 72(2):277-82.. View in PubMed
  • Localization of the human Ror1 gene (NTRKR1) to chromosome 1p31-p32 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics. 1997 Apr 15; 41(2):283-5.. View in PubMed
  • Primitive neuroectodermal tumors of the central nervous system. Brain Pathol. 1997 Apr; 7(2):765-84.. View in PubMed
  • Prognostic significance of chromosome 17p deletions in childhood primitive neuroectodermal tumors (medulloblastomas) of the central nervous system. Clin Cancer Res. 1997 Mar; 3(3):473-8.. View in PubMed
  • ECK, a human EPH-related gene, maps to 1p36.1, a common region of alteration in human cancers. Genomics. 1997 Mar 01; 40(2):371-4.. View in PubMed
  • No preferential parent of origin for the isochromosome 17q in childhood primitive neuroectodermal tumor (medulloblastoma). Genes Chromosomes Cancer. 1997 Feb; 18(2):143-6.. View in PubMed
  • Familial neuroblastoma: a three-generation pedigree and a further association with Hirschsprung disease. Med Pediatr Oncol. 1997 Jan; 28(1):1-5.. View in PubMed
  • Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res. 1996 Aug 01; 56(15):3421-5.. View in PubMed
  • Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. Genomics. 1996 Jul 15; 35(2):289-98.. View in PubMed
  • Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics. 1996 Jul 15; 35(2):275-88.. View in PubMed
  • Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg. 1996 Jul; 85(1):56-65.. View in PubMed
  • Narrowing the critical region for a rhabdoid tumor locus in 22q11. Genes Chromosomes Cancer. 1996 Jun; 16(2):94-105.. View in PubMed
  • In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum Mol Genet. 1996 Jan; 5(1):15-21.. View in PubMed
  • p53 gene mutations in pediatric brain tumors. Med Pediatr Oncol. 1995 Dec; 25(6):431-6.. View in PubMed
  • Frequent expression of a mutant epidermal growth factor receptor in multiple human tumors. Cancer Res. 1995 Dec 01; 55(23):5536-9.. View in PubMed
  • Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma. Hum Mol Genet. 1995 Dec; 4(12):2355-62.. View in PubMed
  • Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein-tyrosine kinase gene of the EPH family. Hum Mol Genet. 1995 Nov; 4(11):2033-45.. View in PubMed
  • Isochromosome 17q demonstrated by interphase fluorescence in situ hybridization in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer. 1995 Oct; 14(2):85-96.. View in PubMed
  • cDNA cloning, molecular characterization, and chromosomal localization of NET(EPHT2), a human EPH-related receptor protein-tyrosine kinase gene preferentially expressed in brain. Genomics. 1995 Sep 20; 29(2):426-37.. View in PubMed
  • Neurologic and other disorders in relatives of pediatric patients with CNS tumors. Pediatr Neurol. 1995 Sep; 13(2):111-6.. View in PubMed
  • Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas. Int J Cancer. 1995 Aug 22; 64(4):243-7.. View in PubMed
  • Congenital anomalies and genetic disorders in families of children with central nervous system tumours. J Med Genet. 1995 Aug; 32(8):627-32.. View in PubMed
  • Assignment of the GLG1 gene for MGF-160, a fibroblast growth factor and E-selectin binding membrane sialoglycoprotein of the Golgi apparatus, to chromosome 16q22-q23 by fluorescence in situ hybridization. Genomics. 1995 Jul 20; 28(2):354-5.. View in PubMed
  • A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. Proc Natl Acad Sci U S A. 1995 Jun 06; 92(12):5520-4.. View in PubMed
  • Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization. Genes Chromosomes Cancer. 1995 Mar; 12(3):186-92.. View in PubMed
  • Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA. 1995 Feb 15; 273(7):553-7.. View in PubMed
  • Cloning and chromosomal localization of the human TRK-B tyrosine kinase receptor gene (NTRK2). Genomics. 1995 Jan 20; 25(2):538-46.. View in PubMed
  • Localization of the human zipper protein kinase gene (ZPK) to chromosome 12q13 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics. 1995 Jan 20; 25(2):597-8.. View in PubMed
  • Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol. 1995; 24(1):21-8.. View in PubMed
  • EWS-erg and EWS-Fli1 fusion transcripts in Ewing’s sarcoma and primitive neuroectodermal tumors with variant translocations. J Clin Invest. 1994 Aug; 94(2):489-96.. View in PubMed
  • Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res. 1994 Jun 01; 54(11):2869-72.. View in PubMed
  • Abnormalities of chromosome 22 in pediatric meningiomas. Genes Chromosomes Cancer. 1994 Feb; 9(2):81-7.. View in PubMed
  • Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines. Genes Chromosomes Cancer. 1994 Feb; 9(2):129-35.. View in PubMed
  • Polymorphism at codon 36 of the p53 gene. Oncogene. 1994 Jan; 9(1):327-8.. View in PubMed
  • Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet. 1993 Oct; 30(10):807-12.. View in PubMed
  • Translocation (11;22)(p13;q12): primary change in intra-abdominal desmoplastic small round cell tumor. Genes Chromosomes Cancer. 1993 Jun; 7(2):119-21.. View in PubMed
  • Sequential development of Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and myeloid leukemia in a child with type 1 neurofibromatosis: a clinical and cytogenetic case report. Leukemia. 1993 Jun; 7(6):912-5.. View in PubMed
  • 46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. Am J Med Genet. 1993 Apr 01; 46(1):95-7.. View in PubMed
  • Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993 Feb; 3(2):113-7.. View in PubMed
  • Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet. 1993 Jan; 52(1):176-82.. View in PubMed
  • Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. Prog Clin Biol Res. 1993; 384:207-24.. View in PubMed
  • Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors. J Clin Invest. 1992 Nov; 90(5):1911-8.. View in PubMed
  • Desmoplastic primitive neuroectodermal tumor with divergent differentiation. Broadening the spectrum of desmoplastic infantile neuroepithelial tumors. Am J Surg Pathol. 1992 Oct; 16(10):998-1006.. View in PubMed
  • Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor. Genes Chromosomes Cancer. 1992 Sep; 5(2):104-8.. View in PubMed
  • Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics. 1992 Aug; 13(4):1150-6.. View in PubMed
  • Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors. Cancer Res. 1992 Jun 15; 52(12):3391-5.. View in PubMed
  • Malignant fibrous histiocytoma of the brain in a six-year-old girl. Genes Chromosomes Cancer. 1992 Jun; 4(4):309-13.. View in PubMed
  • Childhood meningiomas. Experience in the modern imaging era. Pediatr Neurosurg. 1992; 18(1):16-23.. View in PubMed
  • Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma. Genes Chromosomes Cancer. 1991 Nov; 3(6):483-4.. View in PubMed
  • Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma. Genes Chromosomes Cancer. 1991 Mar; 3(2):153-61.. View in PubMed
  • Rhabdoid tumor of the central nervous system. Med Pediatr Oncol. 1991; 19(4):310-7.. View in PubMed
  • Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg. 1990 Nov; 73(5):710-4.. View in PubMed
  • Human central nervous system primitive neuroectodermal tumor expressing nerve growth factor receptors: CHP707m. Ann Neurol. 1990 Aug; 28(2):136-45.. View in PubMed
  • Monoclonal antibody-dependent, cell-mediated cytotoxicity against human malignant gliomas. Neurosurgery. 1990 Jul; 27(1):97-102.. View in PubMed
  • Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer. 1989 Nov; 1(2):139-47.. View in PubMed
  • Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. N Engl J Med. 1989 Sep 28; 321(13):906.. View in PubMed
  • Complex karyotypes in a series of pediatric osteosarcomas. Cancer Genet Cytogenet. 1989 Mar; 38(1):89-100.. View in PubMed
  • A unique chromosome translocation, t(7;15), in a pediatric patient with pre-B-cell lymphoma presenting as a primary tumor of bone. Cancer Genet Cytogenet. 1988 Dec; 36(2):211-5.. View in PubMed
  • Structural chromosomal abnormalities in human medulloblastoma. Cancer Genet Cytogenet. 1988 Jan; 30(1):91-101.. View in PubMed
  • Hydroxyurea synchronization increases mitotic yield in human glioma cell lines. Acta Neuropathol. 1987; 73(3):309-12.. View in PubMed
  • Specific chromosomal abnormalities characterize four established cell lines derived from malignant human gliomas. Acta Neuropathol. 1986; 72(1):86-97.. View in PubMed
  • A path probability model for sister-chromatid exchanges induced by alkylating agents. Mutat Res. 1984 Mar; 126(1):35-46.. View in PubMed
  • Spirogermanium: effects on hematopoietic stem cells and survival of normal and tumor-bearing mice. Proc Soc Exp Biol Med. 1983 Jun; 173(2):176-80.. View in PubMed
  • Cellular replication kinetics and persistence of sister chromatid exchange-inducing lesions in normal and lymphoma AKR cells following exposure to 1,3-bis(2-chloroethyl)-1-nitrosourea. Cancer Res. 1982 Jul; 42(7):2816-20.. View in PubMed
  • In vivo sister chromatid exchange and cellular replication kinetics of normal and lymphoma AKR bone marrow cells. Cancer Res. 1982 Jul; 42(7):2813-5.. View in PubMed
  • A model to study drug effects on lymphoma and normal cell populations using the AKR/J mouse. Leuk Res. 1982; 6(2):269-79.. View in PubMed
  • Comparison of BCNU-induced SCE in bone-marrow cells of AKR/J and BDF1 mice. Mutat Res. 1980 Sep; 79(1):87-90.. View in PubMed

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