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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

  • Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis J Mol Diagn. 2024 Feb 13. . 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 Feb; 26(2):127-139. . View in PubMed
  • Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: implications for diagnosis, prognosis and therapeutic optionsFive years of Progress. Am J Ophthalmol. 2023 Nov 29. . View in PubMed
  • Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma Mod Pathol. 2023 Nov 20; 37(2):100385. . View in PubMed
  • Rhabdoid tumors in patients conceived following ART: is there an association? Hum Reprod. 2023 Oct 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
  • 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
  • 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
  • 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
  • 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
  • Rapidly emerging SARS-CoV-2 B1. 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
  • 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
  • A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies Cancer Genet. 2021 06; 254-255:25-33. . 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
  • 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
  • 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
  • Expanding the spectrum of dicer1-associated sarcomas Mod Pathol. 2020 01; 33(1):164-174. . 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
  • 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
  • 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
  • Novel TRIM24-MET Fusion in a Neonatal Brain Tumor JCO Precis Oncol. 2019 Dec; 3:1-6. . View in PubMed
  • Case-based review: atypical teratoid/rhabdoid tumor Neurooncol Pract. 2019 May; 6(3):163-178. . 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
  • 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
  • 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
  • Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant Cancer Genet. 2019 02; 231-232:62-66. . View in PubMed
  • Germline genetic landscape of pediatric central nervous system tumors Neuro Oncol. 2019 11 04; 21(11):1376-1388. . 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
  • The genomic landscape of pediatric cancers: Implications for diagnosis and treatment Science. 2019 03 15; 363(6432):1170-1175. . 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
  • Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies JNCI Cancer Spectr. 2018 Oct; 2(4):pky079. . 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
  • 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
  • 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
  • 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
  • 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 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
  • 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
  • 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
  • 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
  • Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q112 deletion. Cancer Genet. 2014 Sep; 207(9):415-9. . 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
  • 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
  • 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
  • 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
  • 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
  • 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 22q112 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
  • 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
  • Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors Pediatr Blood Cancer. 2011 Jan; 56(1):7-15. . 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
  • SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. 2009 Mar; 52(3):312-3.. 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
  • 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
  • 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 INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas Mod Pathol. 2009 Jan; 22(1):142-50. . 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
  • 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
  • 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
  • Detailed analysis of 22q112 with a high density MLPA probe set. Hum Mutat. 2008 Mar; 29(3):433-40. . 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
  • 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 22q112 and malignant rhabdoid tumor. Hum Genet. 2007 Sep; 122(2):117-27. . 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
  • Malignant rhabdoid tumor mimicking hepatoblastoma: a case report and literature review Pediatr Dev Pathol. 2007 Sep-Oct; 10(5):409-15. . 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
  • 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
  • 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
  • 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
  • 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
  • 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 22q112. 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
  • 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
  • Cytogenetics and molecular genetics of childhood brain tumors Neuro Oncol. 1999 04; 1(2):139-51. . 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 1p362. 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 genetic analysis of familial neuroblastoma Eur J Cancer. 1997 Oct; 33(12):1923-8. . View in PubMed
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