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Author Details

Kathleen M Schieffer
Nationwide Children's Hospital
2014
46
13
PMIDPaper TitleJournal TitlePublished Year
37877896Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213.Pediatr Blood Cancer2024
36827605Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease).Brain Pathol2023
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
36980535<i>CHEK2</i> Alterations in Pediatric Malignancy: A Single-Institution Experience.Cancers (Basel)2023
35105718Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study.Clin Cancer Res2022
35687047Detection of brain somatic variation in epilepsy-associated developmental lesions.Epilepsia2022
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
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
34667072Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndrome.Cold Spring Harb Mol Case Stud2021
34666310Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion.J Natl Compr Canc Netw2021
34041825Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence.Genes Chromosomes Cancer2021
34256195CD163L1<sup>+</sup>CXCL10<sup>+</sup> Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients.J Surg Res2021
34225052COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon.J Surg Res2021
32637635Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue.Neurol 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
30511196Multifocal Versus Conventional Unifocal Diverticulitis: A Comparison of Clinical and Transcriptomic Characteristics.Dig Dis Sci2019
31826065Elevated Colonic Mucin Expression Correlates with Extended Time to Surgery for Ulcerative Colitis Patients.J Gastrointestin Liver Dis2019
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
29846097Pathophysiology of diverticular disease.Expert Rev Gastroenterol Hepatol2018
30240468A differential host response to viral infection defines a subset of earlier-onset diverticulitis patients.J Gastrointestin Liver Dis2018
28033450Association of Iron Deficiency Anemia With Hearing Loss in US Adults.JAMA Otolaryngol Head Neck Surg2017
28492865The Relationship Between Iron Deficiency Anemia and Sensorineural Hearing Loss in the Pediatric and Adolescent Population.Am J Audiol2017
28985852Development of a total colectomy and ileorectal anastomosis rat model to evaluate colonic metaplasia.J Surg Res2017
28814777The Microbial Ecosystem Distinguishes Chronically Diseased Tissue from Adjacent Tissue in the Sigmoid Colon of Chronic, Recurrent Diverticulitis Patients.Sci Rep2017
28594959Reduced total serum bilirubin levels are associated with ulcerative colitis.PLoS One2017
28619727RNA-seq implicates deregulation of the immune system in the pathogenesis of diverticulitis.Am J Physiol Gastrointest Liver Physiol2017
28633443NOD2 Genetic Variants Predispose One of Two Familial Adenomatous Polyposis Siblings to Pouchitis Through Microbiome Dysbiosis.J Crohns Colitis2017
27252696Bacterial and Fungal Microbiota Changes Distinguish C. difficile Infection from Other Forms of Diarrhea: Results of a Prospective Inpatient Study.Front Microbiol2016
27266825Combined Medical and Surgical Approach Improves Healing of Septic Perianal Crohn's Disease.J Am Coll Surg2016
27554912Review article: the pathogenesis of pouchitis.Aliment Pharmacol Ther2016
26663505Incorporating Informatics for Integrating Biology and the Bedside (i2b2) into Predoctoral Trainee Curriculum to Evaluate Student-Generated Hypotheses.Clin Transl Sci2015
24410849Multicenter evaluation of the Sepsityper⿢ extraction kit and MALDI-TOF MS for direct identification of positive blood culture isolates using the BD BACTEC⿢ FX and VersaTREK(®) diagnostic blood culture systems.J Appl Microbiol2014
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Collaborators

Catherine E Cottrell
Nationwide Children's Hospital
Co-authored papers 25
Elaine R Mardis
The Ohio State University
Co-authored papers 22
Katherine E Miller
College of Medicine, The Ohio State University
Co-authored papers 16
Richard K Wilson
The Ohio State University
Co-authored papers 16
Peter White
The Ohio State University
Co-authored papers 15
Vincent Magrini
The Ohio State University
Co-authored papers 14
Benjamin J Kelly
Nationwide Children's Hospital
Co-authored papers 12
Gregory S Yochum
The Pennsylvania State University College of Medicine
Co-authored papers 12
Stephanie LaHaye
The Institute for Genomic Medicine at Nationwide Children's Hospital
Co-authored papers 10
Daniel R Bou??
Nationwide Children's Hospital
Co-authored papers 10
Anthony R Miller
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 9
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 9
Kristen Leraas
Nationwide Children's Hospital
Co-authored papers 9
James Fitch
The Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 9
Sean McGrath
Harvard T.H. Chan School of Public Health
Co-authored papers 8
Christopher R Pierson
Co-authored papers 7
Jonathan L Finlay
Nationwide Children's Hospital and The Ohio State University
Co-authored papers 7
Diana S Osorio
Nationwide Children's Hospital and The Ohio State University
Co-authored papers 6
Mohamed S Abdelbaki
Washington University
Co-authored papers 4
Tracy A Bedrosian
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 4
Bhuvana A Setty
Ohio State University College of Medicine/Nationwide Children's Hospital
Co-authored papers 4
Ajay Gupta
University at Buffalo Jacobs School of Medicine and Biomedical Sciences
Co-authored papers 3
Brent A Orr
St. Jude Children's Research Hospital
Co-authored papers 3
Natalie Bir
The Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 2
Scott J Emrich
The Pennsylvania State University College of Medicine
Co-authored papers 2
Kristy Lee
The University of North Carolina at Chapel Hill
Co-authored papers 2
Saranga Wijeratne
The Ohio State University
Co-authored papers 2
Adam P Ostendorf
Nationwide Children's Hospital, Ohio State University
Co-authored papers 2
Eric A Sribnick
Nationwide Children's Hospital
Co-authored papers 2
Amy Wetzel
The Institute for Genomic Medicine, Nationwide Children's Hospital
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Release 1.2