All Stories

  1. Transforming Semi-structured Variant Assessments into Computable Clinical Assertions: A Pilot Study for AI-Assisted Curation

    Article • May 2026, openRxiv

    Kathleen M Schieffer

  2. Current State of Diagnostic Genetic Testing in Pediatric Sarcoma: Survey and Review by the Cancer Genomics Consortium Sarcoma Working Group

    Article • Cancer Genetics, November 2025, Elsevier

    Kathleen M Schieffer

  3. Spinal and Leptomeningeal Infantile Glioma With Raf1 Fusion: Diagnostic Challenges for a Potentially Novel Tumour Type

    Article • Neuropathology and Applied Neurobiology, August 2025, Wiley

    Kathleen M Schieffer

  4. Comprehensive Genomic Characterization of Congenital and Infantile Cancers Reveals High Yield of Medically Meaningful Findings

    Article • JCO Precision Oncology, June 2025, American Society of Clinical Oncology (ASCO)

    Kathleen M Schieffer

  5. Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome

    Article • American Journal of Medical Genetics Part A, June 2024, Wiley

    Kathleen M Schieffer

  6. Clinical Cytogenetics: Current Practices and Beyond

    Article • The Journal of Applied Laboratory Medicine, January 2024, Oxford University Press (OUP)

    Kathleen M Schieffer

  7. A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition

    Article • Neuro-Oncology Advances, December 2023, Oxford University Press (OUP)

    Kathleen M Schieffer

  8. Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213

    Article • Pediatric Blood & Cancer, October 2023, Wiley

    Kathleen M Schieffer

  9. Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements

    Article • Cancers, September 2023, MDPI AG

    Kathleen M Schieffer

  10. Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  11. Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  12. Supplementary Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  13. Supplementary Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  14. Supplementary Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  15. Supplementary Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  16. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  17. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  18. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  19. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  20. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  21. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  22. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  23. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  24. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  25. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • March 2023, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  26. EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors

    Article • Genes Chromosomes and Cancer, July 2022, Wiley

    Kathleen M Schieffer

  27. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review

    Article • Genes Chromosomes and Cancer, July 2022, Wiley

    Kathleen M Schieffer

  28. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication

    Article • Molecular Case Studies, February 2022, Cold Spring Harbor Laboratory Press

    Kathleen M Schieffer

  29. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature

    Article • Case Reports in Dermatological Medicine, February 2022, Wiley

    Kathleen M Schieffer

  30. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

    Article • Clinical Cancer Research, February 2022, American Association for Cancer Research (AACR)

    Kathleen M Schieffer

  31. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas

    Article • Acta Neuropathologica Communications, December 2021, Springer Science + Business Media

    Eric Sribnick, Kathleen M Schieffer

  32. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients

    Article • Journal of Surgical Research, November 2021, Elsevier

    Kathleen M Schieffer

  33. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon

    Article • Journal of Surgical Research, November 2021, Elsevier

    Kathleen M Schieffer

  34. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

    Article • Molecular Case Studies, October 2021, Cold Spring Harbor Laboratory Press

    Kathleen M Schieffer

  35. Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence

    Article • Genes Chromosomes and Cancer, June 2021, Wiley

    Kathleen M Schieffer

  36. Novel morphologic findings in PLAG1‐rearranged soft tissue tumors

    Article • Genes Chromosomes and Cancer, April 2021, Wiley

    Kathleen M Schieffer

  37. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

    Article • Acta Neuropathologica Communications, April 2021, Springer Science + Business Media

    Kathleen M Schieffer

  38. Diagnostic yield of Archer FusionPlex PanHeme and solid panels: two-year experience from a pediatric tertiary care hospital

    Article • Molecular Genetics and Metabolism, April 2021, Elsevier

    Kathleen M Schieffer

  39. Expanding the phenotypic spectrum of internal tandem duplications in somatic disease

    Article • Molecular Genetics and Metabolism, April 2021, Elsevier

    Kathleen M Schieffer

  40. Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth

    Article • Molecular Genetics and Metabolism, April 2021, Elsevier

    Kathleen M Schieffer

  41. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation

    Article • Molecular Case Studies, February 2021, Cold Spring Harbor Laboratory Press

    Kathleen M Schieffer

  42. ATRT-21. RHABDOID PREDISPOSITION SYNDROME: REPORT OF MOLECULAR PROFILES AND TREATMENT APPROACH IN THREE CHILDREN WITH SYNCHRONOUS ATYPICAL TERATOID/RHABDOID TUMOR AND MALIGNANT RHABDOID TUMOR

    Article • Neuro-Oncology, December 2020, Oxford University Press (OUP)

    Kathleen M Schieffer

  43. EPEN-17. FAVORABLE OUTCOME TO INTENSIVE CHEMOTHERAPY WITHOUT IRRADIATION IN INFANTILE METASTATIC EPENDYMOMA WITH A NOVEL MOLECULAR PROFILE: A CASE REPORT

    Article • Neuro-Oncology, December 2020, Oxford University Press (OUP)

    Kathleen M Schieffer

  44. EPEN-28. NOVEL ONCOGENE AMPLIFICATION IN SPINAL EPENDYMOMA INVOLVING THE MYC LOCUS (8q24)

    Article • Neuro-Oncology, December 2020, Oxford University Press (OUP)

    Kathleen M Schieffer

  45. RARE-37. NOONAN SYNDROME AND GLIONEURONAL TUMORS: A CENTRAL NERVOUS SYSTEM CANCER PREDISPOSITION ASSOCIATION?

    Article • Neuro-Oncology, December 2020, Oxford University Press (OUP)

    Kathleen M Schieffer

  46. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas

    Article • The American Journal of Surgical Pathology, October 2020, Wolters Kluwer Health

    Eric Sribnick, Kathleen M Schieffer

  47. Infantile fibrosarcoma–like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib

    Article • Molecular Case Studies, October 2020, Cold Spring Harbor Laboratory Press

    Kathleen M Schieffer

  48. Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

    Article • Neurology Genetics, August 2020, Wolters Kluwer Health

    Kathleen M Schieffer

  49. De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation

    Article • Haematologica, January 2020, Ferrata Storti Foundation (Haematologica)

    Kathleen M Schieffer

  50. Elevated Colonic Mucin Expression Correlates with Extended Time to Surgery for Ulcerative Colitis Patients

    Article • Journal of Gastrointestinal and Liver Diseases, December 2019, Romanian Society of Gastroenterology and Heptatology

    Kathleen M Schieffer

  51. ATIM-32. PREDICTORS OF IMPROVED SURVIVAL FOLLOWING ONCOLYTIC VIRUS TREATMENT IN PATIENTS WITH RECURRENT GLIOBLASTOMA: GENE EXPRESSION ANALYSIS FROM THE PHASE IB G207 CLINICAL TRIAL

    Article • Neuro-Oncology, November 2019, Oxford University Press (OUP)

    Kathleen M Schieffer

  52. GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors

    Article • Journal of Neuropathology & Experimental Neurology, September 2019, Oxford University Press (OUP)

    Kathleen M Schieffer

  53. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

    Article • European Journal of Medical Genetics, June 2019, Elsevier

    Kathleen M Schieffer

  54. Multifocal Versus Conventional Unifocal Diverticulitis: A Comparison of Clinical and Transcriptomic Characteristics

    Article • Digestive Diseases and Sciences, December 2018, Springer Science + Business Media

    Kathleen M Schieffer

  55. Distinct Colonic Transciptomes Segregate Multifocal and Unifocal Diverticulitis Patients

    Article • Journal of the American College of Surgeons, October 2018, Elsevier

    Kathleen M Schieffer

  56. A differential host response to viral infection defines a subset of earlier-onset diverticulitis patients

    Article • Journal of Gastrointestinal and Liver Diseases, September 2018, Romanian Society of Gastroenterology and Heptatology

    Kathleen M Schieffer

  57. Pathophysiology of diverticular disease

    Article • Expert Review of Gastroenterology & Hepatology, June 2018, Taylor & Francis

    Kathleen M Schieffer

  58. Su1783 - Accumulation of Cxcl10-Expressing CD163L1 + Macrophages in the Sigmoid Colon of Diverticulitis Patients

    Article • Gastroenterology, May 2018, Elsevier

    Kathleen M Schieffer

  59. Tu1804 - Crohn's Disease-Associated Snp, Rs6651252, Demarcates a Wntresponsive DNA Element that Correlates with Increased Myc Expression in Cd Patients

    Article • Gastroenterology, May 2018, Elsevier

    Kathleen M Schieffer

  60. Development of a total colectomy and ileorectal anastomosis rat model to evaluate colonic metaplasia

    Article • Journal of Surgical Research, October 2017, Elsevier

    Kathleen M Schieffer

  61. The Microbial Ecosystem Distinguishes Chronically Diseased Tissue from Adjacent Tissue in the Sigmoid Colon of Chronic, Recurrent Diverticulitis Patients

    Article • Scientific Reports, August 2017, Nature

    Kathleen M Schieffer, Dr. John P Hegarty

  62. NOD2 Genetic Variants Predispose One of Two Familial Adenomatous Polyposis Siblings to Pouchitis Through Microbiome Dysbiosis

    Article • Journal of Crohn s and Colitis, June 2017, Oxford University Press (OUP)

    Kathleen M Schieffer

  63. RNA-seq implicates deregulation of the immune system in the pathogenesis of diverticulitis

    Article • AJP Gastrointestinal and Liver Physiology, June 2017, American Physiological Society

    Kathleen M Schieffer

  64. The Relationship Between Iron Deficiency Anemia and Sensorineural Hearing Loss in the Pediatric and Adolescent Population

    Article • American Journal of Audiology, June 2017, American Speech-Language-Hearing Association (ASHA)

    Kathleen M Schieffer

  65. Reduced total serum bilirubin levels are associated with ulcerative colitis

    Article • PLOS One, June 2017, PLOS

    Kathleen M Schieffer

  66. NOD2 Allele Variant and Microbiome Differences Contribute to the Occurrence of Pouchitis in One of Two Fap Siblings Following Ileal Pouch-Anal Anastomosis

    Article • Gastroenterology, April 2017, Elsevier

    Kathleen M Schieffer

  67. Association of Iron Deficiency Anemia With Hearing Loss in US Adults

    Article • JAMA Otolaryngology–Head & Neck Surgery, April 2017, American Medical Association (AMA)

    Kathleen M Schieffer

  68. Combined Medical and Surgical Approach Improves Healing of Septic Perianal Crohn's Disease

    Article • Journal of the American College of Surgeons, September 2016, Elsevier

    Kathleen M Schieffer

  69. Review article: the pathogenesis of pouchitis

    Article • Alimentary Pharmacology & Therapeutics, August 2016, Wiley

    Kathleen M Schieffer

  70. Bacterial and Fungal Microbiota Changes Distinguish C. difficile Infection from Other Forms of Diarrhea: Results of a Prospective Inpatient Study

    Article • Frontiers in Microbiology, May 2016, Frontiers

    Dr. John P Hegarty, Kathleen M Schieffer

  71. Su1760 Microbiological Comparison of Two Brothers With Familial Adenomatous Polyposis

    Article • Gastroenterology, April 2016, Elsevier

    Kathleen M Schieffer

  72. Associations between Polymorphisms and Haplotypes in the UDPGlucuronosyl Transferase 1A Gene Family with Lung Cancer Risk

    Article • Journal of Next Generation Sequencing & Applications, January 2016, OMICS Publishing Group

    Kathleen M Schieffer

  73. Incorporating Informatics for Integrating Biology and the Bedside (i2b2) into Predoctoral Trainee Curriculum to Evaluate Student-Generated Hypotheses

    Article • Clinical and Translational Science, December 2015, Wiley

    Kathleen M Schieffer

  74. Sepsityper and MALDI-TOF MS Identification of Positive Blood Cultures

    Article • Journal of Applied Microbiology, February 2014, Oxford University Press (OUP)

    Kathleen M Schieffer