Ryan Jason Schmidt, MD, PhD

Title(s)Assistant Professor of Clinical Pathology
SchoolKeck School of Medicine of Usc
Address4640 West Sunset Blvd
Off Campus
Los Angeles CA 90027
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    1. Clinical Bioinformatician Body of Knowledge-Clinical Laboratory Regulation and Data Security Core: A Report of the Association for Molecular Pathology. J Mol Diagn. 2025 May 08. Schmidt RJ, Furtado LV, Fussell AM, Jordan D, Lebo M, Syed A, Temple-Smolkin RL, Venner E, Worthey E, Carter AB. PMID: 40345436.
      View in: PubMed   Mentions:    Fields:    
    2. Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden. Genet Med. 2025 May 06; 101452. Dharmadhikari AV, Markowitz AL, Han J, Estrine DB, Xu D, Ma K, Fong C, Fernandez BA, Deardorff MA, Schmidt RJ, Ji J, Raca G. PMID: 40340270.
      View in: PubMed   Mentions:    Fields:    
    3. Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. NPJ Genom Med. 2025 Feb 21; 10(1):16. Hahn E, Dharmadhikari AV, Markowitz AL, Estrine D, Quindipan C, Maggo SDS, Sharma A, Lee B, Maglinte DT, Shams S, Deardorff MA, Biegel JA, Gai X, Sun M, Schmidt RJ, Raca G, Ji J. PMID: 39984494; PMCID: PMC11845629.
      View in: PubMed   Mentions:
    4. 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. 2024 Dec 27. Roy S, Fussell AM, Jordan D, Kadri S, Leon A, Schmidt RJ, Temple-Smolkin RL, Merker JD. PMID: 39734030.
      View in: PubMed   Mentions:    Fields:    
    5. 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. Sandoval ZE, Schmidt RJ, Bhutada JS, Shillingford N, Zhou S. PMID: 39248342; PMCID: PMC12087360.
      View in: PubMed   Mentions:    Fields:    
    6. Histone H3 trimethylation on lysine 27 immunostaining pattern in DICER1-associated tumors. Transl Pediatr. 2024 Apr 30; 13(4):624-633. Alturkustani M, Yang B, Bockoven C, Mahabir R, Shillingford N, Schmidt RJ, Zhou S, Warren M, Parham DM, Pawel B, Wang LL. PMID: 38715664; PMCID: PMC11071028.
      View in: PubMed   Mentions:
    7. Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 05; 26(5):337-348. Lee B, Nasanovsky L, Shen L, Maglinte DT, Pan Y, Gai X, Schmidt RJ, Raca G, Biegel JA, Roytman M, An P, Saunders CJ, Farrow EG, Shams S, Ji J. PMID: 38360210.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2024 Jan 02; 134(1). Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H. PMID: 37962958; PMCID: PMC10760965.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    9. 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. Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS, ClinGen Low Penetrance/Risk Allele Working Group. PMID: 38054408; PMCID: PMC10939896.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    10. 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. Buckley J, Schmidt RJ, Ostrow D, Maglinte D, Bootwalla M, Ruble D, Govindarajan A, Ji J, Kovach AE, Orgel E, Raca G, Navid F, Mascarenhas L, Pawel B, Robison N, Gai X, Biegel JA. PMID: 38008288.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma. Mod Pathol. 2024 Feb; 37(2):100385. Zhou S, Sarabia SF, Estrine D, Ostrow D, Schmidt RJ, Warren M, Raca G, Shillingford N, Wang L, Pawel B, Stein JE, Biegel JA, Lopez-Terrada D, Mascarenhas L, Ji J. PMID: 37992967.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. 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. Hu Z, Kovach AE, Yellapantula V, Ostrow D, Doan A, Ji J, Schmidt RJ, Gu Z, Bhojwani D, Raca G. PMID: 37981088; PMCID: PMC10773144.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    13. 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. Yang B, Chour W, Salazar CG, Zamiara P, Schmidt RJ, Raca G, Shillingford N, Zhou S, Warren M, Parham DM, Pawel B, Wang LL. PMID: 37946548.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    14. A Primer on Gene Editing: What Does It Mean for Pathologists? Arch Pathol Lab Med. 2023 Aug 23. Cushman-Vokoun A, Schmidt RJ, Hiemenz MC, Fung M, Zhang BM, Bradshaw G, Gandhi M, Yao J, Yohe S, Beckman A, Grody WW, Giannikopoulos P. PMID: 37610100.
      View in: PubMed   Mentions:    Fields:    
    15. A Primer on Gene Editing. Arch Pathol Lab Med. 2023 Aug 22. Cushman-Vokoun A, Schmidt RJ, Hiemenz MC, Fung M, Zhang BM, Bradshaw G, Gandhi M, Yao J, Yohe S, Beckman A, Grody WW, Giannikopoulos P. PMID: 37603682.
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    16. 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. Crooks KR, Farwell Hagman KD, Mandelker D, Santani A, Schmidt RJ, Temple-Smolkin RL, Lincoln SE. PMID: 37207865.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    17. 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). Manojlovic Z, Auslander A, Jin Y, Schmidt RJ, Xu Y, Chang S, Song R, Ingles SA, Nunes A, Vavra KC, Feigelson D, Rakotoarison S, DiBona M, Magee K, Smile O, Ramamonjisoa A, Magee Iii W. PMID: 36980938; PMCID: PMC10048728.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    18. 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. Sanfilippo CJ, Javaheri M, Handler S, Berry JL, Cobrinik D, Deardorff MA, Sun M, Schmidt RJ, Barkmeier AJ, Nagiel A. PMID: 36270406; PMCID: PMC9974858.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping. Blood Adv. 2022 06 14; 6(11):3343-3346. Jean J, Kovach AE, Doan A, Oberley M, Ji J, Schmidt RJ, Biegel JA, Bhojwani D, Raca G. PMID: 35245931; PMCID: PMC9198916.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    20. 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. Munabi NCO, Mikhail S, Toubat O, Webb M, Auslander A, Sanchez-Lara PA, Manojlovic Z, Schmidt RJ, Craig D, Magee WP, Kumar SR. PMID: 35385219; PMCID: PMC9197864.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    21. m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. Cold Spring Harb Mol Case Stud. 2022 02; 8(2). Jean J, Christodoulou E, Gai X, Tamrazi B, Vera M, Mitchell WG, Schmidt RJ. PMID: 35217561; PMCID: PMC8958915.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    22. Contamination Assessment for Cancer Next-Generation Sequencing. Arch Pathol Lab Med. 2022 01 02; 146(2):227-232. Li YY, Schmidt RJ, Manning DK, Jia Y, Dong F. PMID: 34015814.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    23. PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas. Pediatr Dev Pathol. 2022 Mar-Apr; 25(2):134-140. Warren M, Tiwari N, Sy S, Raca G, Schmidt RJ, Pawel B. PMID: 34601996.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    24. 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. Zhao Y, Wang LK, Eskin A, Kang X, Fajardo VM, Mehta Z, Pineles S, Schmidt RJ, Nagiel A, Satou G, Garg M, Federman M, Reardon LC, Lee SL, Biniwale R, Grody WW, Halnon N, Khanlou N, Quintero-Rivera F, Alejos JC, Nakano A, Fishbein GA, Van Arsdell GS, Nelson SF, Touma M. PMID: 34387706; PMCID: PMC8541947.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    25. Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab037. Ji J, Kaneva K, Hiemenz MC, Dhall G, Davidson TB, Erdreich-Epstein A, Hawes D, Hurth K, Margol AS, Mathew AJ, Robison NJ, Schmidt RJ, Tran HN, Judkins AR, Cotter JA, Biegel JA. PMID: 33948563; PMCID: PMC8080244.
      View in: PubMed   Mentions: 6  
    26. A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies. Cancer Genet. 2021 06; 254-255:25-33. Hiemenz MC, Oberley MJ, Doan A, Aye L, Ji J, Schmidt RJ, Biegel JA, Bhojwani D, Raca G. PMID: 33571894.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    27. Precision Medicine Exits the Hype Cycle and Enters into Productive Clinical Use. Clin Lab Med. 2020 06; 40(2):ix-x. Schmidt RJ. PMID: 32439071.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    28. Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy. J Vitreoretin Dis. 2020 Jan-Feb; 4(1):69-74. Zhang Y, Danesh J, Green KM, Schmidt RJ, Biegel J, Gai X, Lee TC, Kashani AH, Nagiel A. PMID: 37009563; PMCID: PMC9976081.
      View in: PubMed   Mentions:
    29. 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. Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS. PMID: 31147632.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    30. 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. Schmidt RJ, Macleay A, Le LP. PMID: 30794986.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    31. 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. Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ. PMID: 30523343; PMCID: PMC6579719.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    32. Development of a Commercial Reference Laboratory Elective Rotation for Residents in Clinical Pathology. Am J Clin Pathol. 2018 Oct 24; 150(6):485-490. Lewandrowski K, Keegan A, Makarenko V, Maryamchak E, Mata DA, Palte MJ, Rudolf JW, Safdar N, Schmidt RJ, Stuart L, Xiong Y, Rao L, Melanson SEF, Michael Snyder L. PMID: 30053105.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    33. Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genet Med. 2016 12; 18(12):1282-1289. Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B. PMID: 27228465.
      View in: PubMed   Mentions: 103     Fields:    Translation:Humans
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    NIH Funding Acknowledgment: Important - All publications resulting from the utilization of SC CTSI resources are required to credit the SC CTSI grant by including the NIH funding acknowledgment and must comply with the NIH Public Access Policy.

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