Ryan Jason Schmidt, MD, PhD

Assistant Professor of Clinical Pathology

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Publications

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. Front Neurol. 2026; 17:1840802.. View in PubMed
Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing. Arch Pathol Lab Med. 2026 01 13; 150(6):432-437.. 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
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
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
Achieving ACGME Clinical Informatics Fellowship Accreditation: A Chronicle of Our Institution’s Journey. Appl Clin Inform. 2025 08; 16(4):1171-1183.. View in PubMed
The collector practices that shape spatial, temporal, and taxonomic bias in herbaria. New Phytol. 2026 Jul; 251(2):830-841.. 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
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden. Genet Med. 2025 08; 27(8):101452.. 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

Ryan Jason Schmidt, MD, PhD

Publications

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