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Devin Oglesbee
Mayo Clinic
Research areas: Biochemistry, Genetics and Molecular Biology · Clinical Biochemistry · Metabolism and Genetic Disorders · Genomics and Rare Diseases · Lysosomal Storage Disorders Research
0000-0002-7147-5527
Employment
Education
Education history is unavailable.
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Publications (192)
- Hemoglobin alpha-like subunit mu is expressed during ontogeny and is elevated in alpha thalassemia Save
- Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease Save
- Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy Save
- Clinically Discordant Siblings with Spinal Muscular Atrophy: Insights from Patient-Specific iPSC-Derived Motor Neurons and Literature Review Save
- Rethinking the pathogenicity of intragenicDMDduplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing Save
- The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders Save
- A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort Save
- Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network Save
- An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser Save
- Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia Save
- Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism Save
- Clinical Assessment of Next-Generation Sequencing Probe Reproducibility in Short-Read Sequencing (ClinRay) Using Digital Twins Save
- Clinical Insights Into Disaccharidase Deficiency: Prevalence, Intestinal Histology, and Outcomes Save
- Clinical utility of untargeted urine oligosaccharide screening Save
- De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies Save
- ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy Save
- Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients Save
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations Save
- KIF21A -associated peripheral neuropathy defined by impaired binding with TUBB3 Save
- Lost in the Sauce: An Atypical Cause of Optic Neuropathy Save