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Ryan Jason Schmidt, MD, PhD

Assistant Professor of Clinical Pathology

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Email [email protected]
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Publications

  • Undifferentiated embryonal sarcoma of the liver: A clinicopathological and genomic study of 10 cases from a single institution. Hum Pathol. 2025 Nov; 165:105935.. View in PubMed
  • High-Grade Malignant Pleuropulmonary Neoplasm With YAP1::MAML2 Gene Fusion. Pediatr Dev Pathol. 2025 Nov-Dec; 28(6):514-517.. View in PubMed
  • Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution. Virchows Arch. 2025 Aug 14.. View in PubMed
  • Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden. Genet Med. 2025 Aug; 27(8):101452.. View in PubMed
  • Achieving ACGME Clinical Informatics Fellowship Accreditation: A Chronicle of Our Institution’s Journey. Appl Clin Inform. 2025 Aug; 16(4):1171-1183.. View in PubMed
  • Clinical Bioinformatician Body of Knowledge-Clinical Laboratory Regulation and Data Security Core: A Report of the Association for Molecular Pathology. J Mol Diagn. 2025 Jul; 27(7):583-601.. View in PubMed
  • Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology’s Clinical Bioinformatician Body of Knowledge Steering Committee. J Mol Diagn. 2025 Jul; 27(7):541-545.. View in PubMed
  • The collector practices that shape spatial, temporal, and taxonomic bias in herbaria. New Phytol. 2025 Jun 19.. View in PubMed
  • Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. NPJ Genom Med. 2025 Feb 21; 10(1):16.. View in PubMed
  • A Novel TEK::GAB2 Gene Fusion in Pediatric Angiosarcoma of Pelvic soft Tissue: A Case Report and Literature Review. Pediatr Dev Pathol. 2025 Jan-Feb; 28(1):58-62.. View in PubMed
  • Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 05; 26(5):337-348.. View in PubMed
  • Histone H3 trimethylation on lysine 27 immunostaining pattern in DICER1-associated tumors. Transl Pediatr. 2024 Apr 30; 13(4):624-633.. View in PubMed
  • Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genet Med. 2024 03; 26(3):101036.. View in PubMed
  • Pediatric Sertoli-Leydig Cell Tumors of the Ovary: An Integrated Study of Clinicopathological Features, Pan-cancer-Targeted Next-generation Sequencing and Chromosomal Microarray Analysis From a Single Institution. Am J Surg Pathol. 2024 Feb 01; 48(2):194-203.. View in PubMed
  • An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors. J Mol Diagn. 2024 02; 26(2):127-139.. View in PubMed
  • Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma. Mod Pathol. 2024 Feb; 37(2):100385.. View in PubMed
  • Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2024 01 02; 134(1).. View in PubMed
  • Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory. J Mol Diagn. 2024 01; 26(1):49-60.. View in PubMed
  • Hidden cargo: The impact of historical shipping trade on the recent-past and contemporary non-native flora of northeastern United States. Am J Bot. 2023 09; 110(9):e16224.. View in PubMed
  • Spatially resolved detection of small molecules from press-dried plant tissue using MALDI imaging. Appl Plant Sci. 2023 Sep-Oct; 11(5):e11539.. View in PubMed
  • A Primer on Gene Editing: What Does It Mean for Pathologists? Arch Pathol Lab Med. 2023 Aug 23; 148(5):515-530.. View in PubMed
  • Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors. J Mol Diagn. 2023 07; 25(7):411-427.. View in PubMed
  • Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry. Genes (Basel). 2023 03 07; 14(3).. View in PubMed
  • Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium. Ophthalmology. 2023 03; 130(3):265-273.. View in PubMed
  • High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. Am J Med Genet A. 2022 07; 188(7):2082-2095.. View in PubMed
  • Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping. Blood Adv. 2022 06 14; 6(11):3343-3346.. View in PubMed
  • PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas. Pediatr Dev Pathol. 2022 Mar-Apr; 25(2):134-140.. View in PubMed
  • m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).. View in PubMed
  • Contamination Assessment for Cancer Next-Generation Sequencing. Arch Pathol Lab Med. 2022 01 02; 146(2):227-232.. View in PubMed
  • Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. J Mol Med (Berl). 2021 11; 99(11):1623-1638.. View in PubMed
  • Developing dashboards for performance improvement in cytopathology. J Am Soc Cytopathol. 2021 Nov-Dec; 10(6):535-542.. View in PubMed
  • A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies. Cancer Genet. 2021 06; 254-255:25-33.. View in PubMed
  • Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab037.. View in PubMed
  • Precision Medicine Exits the Hype Cycle and Enters into Productive Clinical Use. Clin Lab Med. 2020 06; 40(2):ix-x.. View in PubMed
  • Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy. J Vitreoretin Dis. 2020 Jan-Feb; 4(1):69-74.. View in PubMed
  • Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk. Genet Med. 2019 12; 21(12):2765-2773.. View in PubMed
  • Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 07; 21(7):1507-1516.. View in PubMed
  • VarGrouper: A Bioinformatic Tool for Local Haplotyping of Deletion-Insertion Variants from Next-Generation Sequencing Data after Variant Calling. J Mol Diagn. 2019 05; 21(3):384-389.. View in PubMed
  • Development of a Commercial Reference Laboratory Elective Rotation for Residents in Clinical Pathology. Am J Clin Pathol. 2018 Oct 24; 150(6):485-490.. View in PubMed
  • Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genet Med. 2016 12; 18(12):1282-1289.. View in PubMed
  • Cloning and characterization of a novel MyoD enhancer-binding factor. Mech Dev. 2007 Sep-Oct; 124(9-10):715-28.. View in PubMed

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