Search Results - Devin Oglesbee

Refine Results
  1. 1

    488 From discovery to the clinical laboratory: a methodological appraisal of untargeted metabolomics platforms to characterize inborn errors of metabolism. by Rachel Wurth, Coleman Turgeon, Zinandré Stander, Devin Oglesbee

    Get full text
    Article


  2. 2

    P444: SMA carrier screening utilizing SNP array technology and confirmatory ddPCR reveals an isolated SMN1 exon 8 deletion by Noemi Vidal-Folch, Jennifer Winters, Devin Oglesbee, Linda Hasadsri, Sara Cook

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  3. 3

    P024: Clinical utility in hospital-wide use of GDF15 as a biomarker for mitochondrial DNA encoded primary mitochondrial disorders by Andrea Cortes Fernandez, Jane Estrella, Devin Oglesbee, Austin Larson, Johan Van Hove

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  4. 4

    P037: Masked by chronic substance abuse, and blindsided by a multi-enzyme complex deficiency: An intriguing case report by Zinandré Stander, Jessica Kraker, Silvia Tortorelli, Devin Oglesbee, John Chen, Lisa Schimmenti

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  5. 5

    P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance by Kyle Salsbery, Devin Oglesbee, Elizabeth Selner, Angela Pickart, Zhiyv Niu, Emily Lauer, Dawn Peck

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  6. 6

    P674: Designing an untargeted metabolomics assay to detect biomarkers for inborn errors of metabolism in the clinical laboratory by Rachel Wurth, Coleman Turgeon, Zinandré Stander, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  7. 7

    P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation by Zinandre Stander, William Laxen, Perry Loken, Amy White, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  8. 8

    P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease* by Dietrich Matern, Gisele Pino, April Studinski, Dawn Peck, Amy White, Dimitar Gavrilov, Patricia Hall, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  9. 9

    The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism by Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo

    Get full text
    Article


  10. 10

    O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics by Rachel Wurth, Coleman Turgeon, Zinandre Stander, Dietrich Matern, Amy White, Dimitar Gavrilov, Patricia Hall, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  11. 11

    P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care by Patricia Hall, Dawn Peck, Gisele Pino, April Studinski, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  12. 12

    P051: Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns by Ibrahim Khoja, Gisele Pino, Dawn Peck, April Studinski, Dimitar Gavrilov, Devin Oglesbee, Dietrich Matern, Matthew Schultz, Patricia Hall, Silvia Tortorelli, Amy White

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  13. 13

    SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts by Sara L. Cook, Christian Stout, Lindsey Kirkeby, Noemi Vidal-Folch, Devin Oglesbee, Linda Hasadsri, Duygu Selcen, Margherita Milone, Daniel Anderson, Nathan P. Staff

    Published in Frontiers in Genetics (2024-07-01)
    Get full text
    Article


  14. 14

    O61: Intragenic DMD duplications should not be presumed to be likely pathogenic: Findings from long-read sequencing by Qiliang (Andy) Ding, Jagadheshwar Balan, Noemi Vidal Folch, Angela Pickart, Jesse Walsh, Ramanath Majumdar, Eric Klee, Stephen Murphy, Devin Oglesbee, Ross Rowsey, Linda Hasadsri

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  15. 15

    A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases by Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network

    Published in Orphanet Journal of Rare Diseases (2024-11-01)
    Get full text
    Article


  16. 16

    Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase by Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall

    Published in Molecular Genetics and Metabolism Reports (2024-09-01)
    Get full text
    Article


  17. 17

    Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... by Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III

    Published in Molecular Genetics and Metabolism Reports (2024-12-01)
    Get full text
    Article


  18. 18

    P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy* by Amy White, Jordan Bontrager, William Laxen, Perry Loken, Tiffany Grider, Josef Alawneh, Vincent Carson, Emily Lauer, Angela Pickart, Zhiyv Niu, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Patricia Hall, Dietrich Matern, Michael Shy, David Herrmann, Matthew Schultz

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  19. 19

    O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients* by Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Silvia Tortorelli

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  20. 20

    A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh. by Brandon L Pierce, Lin Tong, Samantha Dean, Maria Argos, Farzana Jasmine, Muhammad Rakibuz-Zaman, Golam Sarwar, Md Tariqul Islam, Hasan Shahriar, Tariqul Islam, Mahfuzar Rahman, Md Yunus, Vincent J Lynch, Devin Oglesbee, Joseph H Graziano, Muhammad G Kibriya, Mary V Gamble, Habibul Ahsan

    Published in PLoS Genetics (2019-03-01)
    Get full text
    Article


Search Tools: