RyanJasonSchmidtMD

PubMed

• Histone H3 trimethylation on lysine 27 immunostaining pattern in-associated tumors.
  Bo Yang, Murad Alturkustani, Crystal Bockoven, Roshan Mahabir, Nick Shillingford, Ryan J Schmidt, Shengmei Zhou, Mikako Warren, David M Parham, Bruce Pawel, Larry L Wang> ;Translational Pediatrics. 2024 Apr 30
• Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.
  Brian Lee, Lily Nasanovsky, Lishuang Shen, Dennis T Maglinte, Yachen Pan, Xiaowu Gai, Ryan J Schmidt, Gordana Raca, Jaclyn A Biegel, Megan Roytman, Paul An, Carol J Sa...> ;The Journal of Molecular Diagnostics. 2024 May 1
• An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors.
  Buckley, J., Schmidt, R., Ostrow, D., Maglinte, D., Bootwalla, M., Ruble, D., Govindarajan, A., Ji, J., Kovach, A., Orgel, E., Raca, G., Navid, F., Mascarenhas, L., Pa...> ;The Journal of Molecular Diagnostics. 2024 Feb 1
• 1 citations
  Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
  Li, D., Wang, Q., Bayat, A., Battig, M., Zhou, Y., Bosch, D., van Haaften, G., Granger, L., Petersen, A., Pérez-Jurado, L., Aznar-Laín, G., Aneja, A., Hancarova, M., B...> ;The Journal of Clinical Investigation. 2024 Jan 2
• Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma.
  Shengmei Zhou, Stephen F Sarabia, Dolores Estrine, Dejerianne Ostrow, Ryan J Schmidt, Mikako Warren, Gordana Raca, Nick Shillingford, Larry Wang, Bruce Pawel, James E ...> ;Modern Pathology. 2024 Feb 1
• 1 citations
  Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory.
  Zunsong Hu, Alexandra E Kovach, Dejerianne Ostrow, Andrew Doan, Jianling Ji, Ryan J Schmidt, Zhaohui Gu, Deepa Bhojwani, Gordana Raca, Venkata Yellapantula> ;The Journal of Molecular Diagnostics. 2024 Jan 1
• 1 citations
  Pediatric Sertoli-Leydig Cell Tumors of the Ovary: An Integrated Study of Clinicopathological Features, Pan-cancer-Targeted Next-generation Sequencing and Chromosomal ...
  Bo Yang, William Chour, Cristo Guardado Salazar, Paul Zamiara, Ryan J Schmidt, Gordana Raca, Nick Shillingford, Shengmei Zhou, Mikako Warren, David M Parham, Bruce Paw...> ;The American Journal of Surgical Pathology. 2024 Feb 1
• 1 citations
  Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic...
  Kristy R Crooks, Kelly D Farwell Hagman, Diana Mandelker, Avni Santani, Ryan J Schmidt, Robyn L Temple-Smolkin, Stephen E Lincoln> ;The Journal of Molecular Diagnostics. 2023 Jul 1
• 1 citations
  Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways a...
  Zarko Manojlovic, Allyn Auslander, Yuxin Jin, Ryan J Schmidt, Yili Xu, Sharon Chang, Ruocen Song, Sue A Ingles, Alana Nunes, K C Vavra, Devin Feigelson, Sylvia Rakotoa...> ;Genes. 2023 Mar 7
• Retinal manifestations in autosomal recessivemaculopathy: report of two cases and literature review.
  Rahul Iyengar, Matthew Deardorff, Ryan Schmidt, Aaron Nagiel> ;Ophthalmic Genetics. 2023 Dec 1
• Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium.
  Christian J Sanfilippo, Michael Javaheri, Sheryl Handler, Jesse L Berry, David Cobrinik, Matthew A Deardorff, Miao Sun, Ryan J Schmidt, Andrew J Barkmeier, Aaron Nagiel> ;Ophthalmology. 2023 Mar 1
• 2 citations
  High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.
  Naikhoba C O Munabi, Shady Mikhail, Michelle Webb, Allyn Auslander, Pedro A Sanchez-Lara, Zarko Manojlovic, Ryan J Schmidt, David Craig, William P Magee 3rd, Subramany...> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in(Alström syndrome).
  Melinda Y Chang, Mark S Borchert, Ryan Schmidt, Aaron Nagiel> ;American Journal of Ophthalmology Case Reports. 2022 Jun 1
• 1 citations
  PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas
  Mikako Warren, Nishant Tiwari, Sabrina Sy, Gordana Raca, Ryan J. Schmidt, Bruce R. Pawel> ;Pediatric and Developmental Pathology. 2021 Oct 4
• 3 citations
  Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
  Yan Zhao, Lee-kai Wang, Ascia Eskin, Xuedong Kang, Viviana M. Fajardo, Zubin Mehta, Stacy L. Pineles, Ryan J. Schmidt, Aaron Nagiel, Gary Satou, Meena Garg, Myke Feder...> ;Journal of Molecular Medicine. 2021 Aug 13
• 6 citations
  Developing dashboards for performance improvement in cytopathology.
  Katharine Horback, Kaitlin E. Sundling, Ryan J. Schmidt, Edmund S. Cibas> ;Journal of the American Society of Cytopathology. 2021 Nov 1
• 1 citations
  Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review.
  Murad Alturkustani, Ryan J. Schmidt, Christopher P. Gayer, Mikako Warren, Fariba Navid, Gordana Raca, Jaclyn A. Biegel, Bruce R. Pawel, Shengmei Zhou> ;International Journal of Surgical Pathology. 2021 Jun 9
• 8 citations
  A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies.
  Matthew C. Hiemenz, Matthew J. Oberley, Andrew Doan, Le Aye, Jianling Ji, Ryan J. Schmidt, Jaclyn A. Biegel, Deepa Bhojwani, Gordana Raca> ;Cancer Genetics. 2021 Jun 1
• 1 citations
  Contamination Assessment for Cancer Next-Generation Sequencing: Method Development and Clinical Implementation.
  Yvonne Y. Li, Ryan J. Schmidt, Danielle K. Manning, Yonghui Jia, Fei Dong> ;Archives of Pathology & Laboratory Medicine. 2021 May 20
• 3 citations
  Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults
  Jianling Ji, Kristiyana Kaneva, Matthew C. Hiemenz, Girish Dhall, Tom B. Davidson, Anat Erdreich-Epstein, Debra Hawes, Kyle Hurth, Ashley Margol, Anna Mathew, Nathan R...> ;Neuro-Oncology Advances. 2021 Jan 1
• Precision Medicine Exits the Hype Cycle and Enters into Productive Clinical Use.
  Ryan J. Schmidt> ;Clinics in Laboratory Medicine. 2020 Jun 1
• 50 citations
  Expanding the spectrum of dicer1-associated sarcomas.
  Mikako Warren, Matthew C. Hiemenz, Ryan J. Schmidt, Jared Shows, Jennifer A. Cotter, Stephanie Toll, David M. Parham, Jaclyn A. Biegel, Leo Mascarenhas, Rachana Shah> ;Modern Pathology. 2020 Jan 1
• 3 citations
  Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy.
  Youning Zhang, Jennifer Danesh, Kyle M Green, Ryan J Schmidt, Jaclyn Biegel, Xiaowu Gai, Thomas C Lee, Amir H Kashani, Aaron Nagiel> ;Journal of Vitreoretinal Diseases. 2019 Oct 17
• 3 citations
  VarGrouper: A Bioinformatic Tool for Local Haplotyping of Deletion-Insertion Variants from Next-Generation Sequencing Data after Variant Calling
  Ryan J. Schmidt, Allison MacLeay, Long P. Le> ;The Journal of Molecular Diagnostics. 2019 May 1
• 18 citations
  Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
  Ozlem Senol-Cosar, Ryan J. Schmidt, Emily Qian, Derick Hoskinson, Heather Mason-Suares, Birgit Funke, Matthew S. Lebo> ;Genetics in Medicine. 2019 May 31
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