Jaclyn A. Biegel

Jaclyn A. Biegel

Professor of Pathology (Clinical Scholar)
Pediatrics CHLA
CHLA 4650 W. Sunset Blvd. Off Campus Los Angeles


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

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

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

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

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

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

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

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

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

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

SWI/SNF chromatin remodeling complexes and cancer Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):350-66. . View in PubMed

Introduction from the editor Cancer Genet. 2014 Sep; 207(9):345. . 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

CLL/SLL diagnosed in an adolescent Pediatr Blood Cancer. 2014 Jun; 61(6):1107-10. . 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

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

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

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

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

Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma Clin Neuropathol. 2011 Sep-Oct; 30(5):235-41. . View in PubMed

Ganglioglioma arising from dysplastic cortex Epilepsia. 2011 Sep; 52(9):e106-8. . 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

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

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel Cancer Genet. 2011 Jan; 204(1):19-25. . 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

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

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 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

INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas Mod Pathol. 2005 Jul; 18(7):951-8. . 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

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

Molecular analysis of pediatric brain tumors Curr Oncol Rep. 2004 Nov; 6(6):445-52. . 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

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

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 analysis of the region of distal 1p commonly deleted in neuroblastoma Eur J Cancer. 1997 Oct; 33(12):1957-61. . 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 1p361, 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

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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

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Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines Genes Chromosomes Cancer. 1994 Feb; 9(2):129-35. . View in PubMed

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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

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