Jaclyn A. Biegel, PhD

Professor of Pathology (Clinical Scholar)

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Research Funding

  • Towards Precision Medicine in Childhood Acquired Aplastic Anemia
    NIH · R24DK103001 · Sep 1, 2014 – Jul 31, 2018 · Role: Co-Principal Investigator
  • Molecular Profiling and Candidate Gene Analysis in Pediatric Gliomas
    NIH · R21CA133173 · Apr 1, 2008 – Sep 30, 2011 · Role: Principal Investigator
  • Genetics of pediatric rhabdoid tumors
    NIH · R01CA046274 · Jan 13, 1989 – May 31, 2015 · Role: Principal Investigator

Publications

  • SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity. Nat Commun. 2026 Apr 08; 17(1).. View in PubMed
  • FOXR2-activated CNS neuroblastoma: Characterized by variable structural disruption of the FOXR2 regulatory region, recurrent copy number alterations, and elevated FOXR2 expression. Neurooncol Pediatr. 2026 Apr; 2(2):wuag014.. View in PubMed
  • Paediatric Therapeutic Development Workshop on rhabdoid tumours. Br J Cancer. 2026 Jun; 134(11):1510-1528.. View in PubMed
  • Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors. Acta Neuropathol Commun. 2026 02 05; 14(1):44.. View in PubMed
  • Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions. NPJ Precis Oncol. 2026 Jan 12; 10(1):53.. View in PubMed
  • Outcomes following radiotherapy for atypical teratoid/rhabdoid tumor in combination with surgery and intensive chemotherapy: A report from Children’s Oncology Group study ACNS0333. Neurooncol Pediatr. 2026 Jan; 2(1).. View in PubMed
  • Germline Cancer Predisposition Results From the National Cancer Institute-Children’s Oncology Group Pediatric MATCH Trial. JCO Precis Oncol. 2025 Oct; 9:e2500742.. View in PubMed
  • 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
  • Correction: Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing. Front Genet. 2025; 16:1639666.. View in PubMed
  • The use of aqueous humor cfDNA for low-pass whole genome sequencing as a clinical test to identify intraocular retinoblastoma recurrence. ScienceBank. 2025; 2025.. View in PubMed