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Ryan Jason Schmidt, MD, PhD

Assistant Professor of Clinical Pathology

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Email rschmidt@chla.usc.edu
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Publications

  • Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group Genet Med. 2024 Mar; 26(3):101036. . View in PubMed
  • Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis J Mol Diagn. 2024 Feb 13. . 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 Feb; 26(2):127-139. . 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
  • 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 Jan 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 Jan; 26(1):49-60. . View in PubMed
  • A Primer on Gene Editing: What Does It Mean for Pathologists? Arch Pathol Lab Med. 2023 Aug 23.. View in PubMed
  • A Primer on Gene Editing Arch Pathol Lab Med. 2023 Aug 22. . 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
  • 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
  • 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
  • m3685T > 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
  • 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
  • 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
  • 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
  • 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

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