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Author Details

Catherine E Cottrell
Nationwide Children's Hospital
2009
69
17
PMIDPaper TitleJournal TitlePublished Year
37877896Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213.Pediatr Blood Cancer2024
36566878PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.J Invest Dermatol2023
37686670Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.Cancers (Basel)2023
35801295EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors.Genes Chromosomes Cancer2023
35716171Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.Genes Chromosomes Cancer2023
37013636A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer.Genome Med2023
36503149Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology.J Mol Diagn2023
36827605Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease).Brain Pathol2023
34237354Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.J Am Acad Dermatol2022
35718094A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.J Mol Diagn2022
35687047Detection of brain somatic variation in epilepsy-associated developmental lesions.Epilepsia2022
36440997Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.Pediatr Dermatol2022
35912263Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.Front Oncol2022
35967098An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient.Neurooncol Adv2022
36191838Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity.J Mol Diagn2022
35154835Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature.Case Rep Dermatol Med2022
35149534Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication.Cold Spring Harb Mol Case Stud2022
35091509Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorder.Cold Spring Harb Mol Case Stud2022
34964173KRIT1-positive hyperkeratotic cutaneous capillary venous malformation.Pediatr Dermatol2022
35339647Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.Ann Oncol2022
33074854YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.Am J Surg Pathol2021
33827698Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.Acta Neuropathol Commun2021
33893698Novel morphologic findings in PLAG1-rearranged soft tissue tumors.Genes Chromosomes Cancer2021
33637608Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with <i>BRAF</i> p.T599dup mutation.Cold Spring Harb Mol Case Stud2021
34895332Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.Acta Neuropathol Commun2021
34863095Discovery of clinically relevant fusions in pediatric cancer.BMC Genomics2021
34666310Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion.J Natl Compr Canc Netw2021
34716204Somatic variation as an incidental finding in the pediatric next-generation sequencing era.Cold Spring Harb Mol Case Stud2021
34041825Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence.Genes Chromosomes Cancer2021
34040190Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.Genet Med2021
31415821Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.Eur J Med Genet2020
31949013<i>De novo</i> primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) <i>NFIA/CBFA2T3</i> translocation.Haematologica2020
33028644Infantile fibrosarcoma-like tumor driven by novel <i>RBPMS-MET</i> fusion consolidated with cabozantinib.Cold Spring Harb Mol Case Stud2020
32637635Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue.Neurol Genet2020
32371413Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.Cold Spring Harb Mol Case Stud2020
30594748Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling.Hum Pathol2019
31271967Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.iScience2019
31585106Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.Am J Hum Genet2019
31626289GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.J Neuropathol Exp Neurol2019
31195167Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.Eur J Med Genet2019
29265627An 8-Year-Old Girl with A Supratentorial Mass.Brain Pathol2018
29981866Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience.J Mol Diagn2018
29516089Scarring in Patients With PIK3CA-Related Overgrowth Syndromes.JAMA Dermatol2018
29434027Genome sequencing identifies somatic <i>BRAF</i> duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.Cold Spring Harb Mol Case Stud2018
29327716Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer.Mod Pathol2018
29174369Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.J Invest Dermatol2018
29193020Mosaic pathogenic HRAS variant in a patient with nevus spilus with agminated Spitz nevi and parametrial-uterine rhabdomyosarcoma.Br J Dermatol2018
27307077Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.Clin Genet2017
28093192Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.Exp Mol Pathol2017
28835367<i>FGFR2</i> amplification in colorectal adenocarcinoma.Cold Spring Harb Mol Case Stud2017
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Collaborators

Elaine R Mardis
The Ohio State University
Co-authored papers 26
Kathleen M Schieffer
Nationwide Children's Hospital
Co-authored papers 25
Vincent Magrini
The Ohio State University
Co-authored papers 19
Richard K Wilson
The Ohio State University
Co-authored papers 19
Peter White
The Ohio State University
Co-authored papers 17
Benjamin J Kelly
Nationwide Children's Hospital
Co-authored papers 16
Katherine E Miller
College of Medicine, The Ohio State University
Co-authored papers 16
James Fitch
The Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 11
Daniel R Bou??
Nationwide Children's Hospital
Co-authored papers 11
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 11
Stephanie LaHaye
The Institute for Genomic Medicine at Nationwide Children's Hospital
Co-authored papers 10
Anthony R Miller
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 8
Sean McGrath
Harvard T.H. Chan School of Public Health
Co-authored papers 8
Kristen Leraas
Nationwide Children's Hospital
Co-authored papers 8
Jonathan L Finlay
Nationwide Children's Hospital and The Ohio State University
Co-authored papers 8
Julie M Gastier-Foster
Baylor College of Medicine
Co-authored papers 8
Christopher R Pierson
Co-authored papers 7
Katinka A Vigh-Conrad
Co-authored papers 7
Ian S Hagemann
Co-authored papers 6
Diana S Osorio
Nationwide Children's Hospital and The Ohio State University
Co-authored papers 6
Shashikant Kulkarni
Centene Center for Health Transformation, Centene Corporation
Co-authored papers 5
Natalie Bir
The Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 4
Tracy A Bedrosian
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 4
Kristy Lee
The University of North Carolina at Chapel Hill
Co-authored papers 4
Bhuvana A Setty
Ohio State University College of Medicine/Nationwide Children's Hospital
Co-authored papers 4
Mohamed S Abdelbaki
Washington University
Co-authored papers 4
Rakesh Nagarajan
Current or past members of the College of American Pathologists
Co-authored papers 4
David H Spencer
Washington University School of Medicine.
Co-authored papers 4
Archana Shenoy
Co-authored papers 3
Ajay Gupta
University at Buffalo Jacobs School of Medicine and Biomedical Sciences
Co-authored papers 3
Release 1.2