Author details

Full Name

Jaclyn A Biegel

Affiliation

ORCID

Career Start Year

1980

Papers

242

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38040321	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
36805676	Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors.	NPJ Precis Oncol	2023
37553222	Rhabdoid tumors in patients conceived following ART: is there an association?		2023
37461402	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
37204254	Addendum: Sustained response of three pediatric BRAFV600E mutated high-grade gliomas to combined BRAF and MEK inhibitor therapy.	Oncotarget	2023
34488461	Pediatric Metastatic Hepatoblastoma With an <i>ARID1A</i> Mutation and Rhabdoid Cells.	Int J Surg Pathol	2022
35381089	Meeting the high expectations for liquid biopsy assays for pediatric brain tumors: Progress and challenges.	Neuro-Oncology	2022
35682905	Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.	Int J Mol Sci	2022
36115539	Mitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma.	Mitochondrion	2022
34106024	Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review.	Int J Surg Pathol	2022
35245931	Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping.	Blood Adv	2022
33221597	Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.	Pediatr Neurol	2021
34125658	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
33805776	Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.	Cancers (Basel)	2021
34231212	Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.	J Pathol	2021
33688673	Persistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity.	medRxiv	2021
33896413	Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications.	Emerg Microbes Infect	2021
33571894	A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies.	Cancer Genet	2021
33948563	Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.	Neurooncol Adv	2021
34337412	The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors.	Neurooncol Adv	2021
34316014	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.	NPJ Precis Oncol	2021
33915337	Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series.	EBioMedicine	2021
31537896	Expanding the spectrum of dicer1-associated sarcomas.	Mod Pathol	2020
37009563	Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy.		2020
32105509	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
31972374	Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods.	Mitochondrion	2020
34095334	High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19.	Open Forum Infect Dis	2020
32799607	Simultaneous identification of clinically relevant <i>RB1</i> mutations and copy number alterations in aqueous humor of retinoblastoma eyes.	Ophthalmic Genet	2020
33013809	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
30709931	Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.	Cancer Res	2019
35100688	Novel <i>TRIM24</i>-<i>MET</i> Fusion in a Neonatal Brain Tumor.	JCO Precis Oncol	2019
31138931	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
30872516	The genomic landscape of pediatric cancers: Implications for diagnosis and treatment.	Science	2019
31179415	Rare Pediatric Invasive Gliofibroma Has BRAFV600E Mutation and Transiently Responds to Targeted Therapy Before Progressive Clonal Evolution.	JCO Precis Oncol	2019
30755392	A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.	Cold Spring Harb Mol Case Stud	2019
30803559	Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.	Cancer Genet	2019
30728904	Sustained response of three pediatric BRAF<sup>V600E</sup> mutated high-grade gliomas to combined BRAF and MEK inhibitor therapy.	Oncotarget	2019
31386032	Case-based review: atypical teratoid/rhabdoid tumor.	Neurooncol Pract	2019
30948375	Pediatric Atypical Teratoid/Rhabdoid Tumors of the Brain: Identification of Metabolic Subgroups Using In Vivo <sup>1</sup>H-MR Spectroscopy.	AJNR Am J Neuroradiol	2019
31247102	Germline genetic landscape of pediatric central nervous system tumors.	Neuro-Oncology	2019
30976750	Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies.	JNCI Cancer Spectr	2018
30138724	OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.	J Mol Diagn	2018
29395683	Three synchronous malignancies in a patient with DICER1 syndrome.	European Journal of Cancer	2018
29581140	Transmission of a <i>TP53</i> 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
28111898	Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation.	Pediatric Blood and Cancer	2017
28597942	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 and Cancer	2017
28387643	Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor.	J Neurosurg Pediatr	2017
28371217	Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.	Am J Med Genet A	2017
28971166	Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications.	Blood Adv	2017
27941797	SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation.	Nat Genet	2017