Jerry Vockley

Pittsburgh Public Schools — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

78h-index18.3kcitations489works2.52yr avg
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Research Topics

Metabolism and Genetic Disorders(328), Mitochondrial Function and Pathology(143), Diet and metabolism studies(85), Biochemical and Molecular Research(73), Peroxisome Proliferator-Activated Receptors(54)

Publications486 total

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine·2026Open Access
Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein‐Deficient Mice and Human Fibroblasts
Journal of Inherited Metabolic Disease·2026Open Access
Response to Burgard et al
Genetics in Medicine·2026
Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation
The Journal of Pediatrics·2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions
International Journal of Neonatal Screening·2025Open Access
Preparation of Vitrified Mammalian Cells for <i>In Situ</i> Cryo‐Electron Tomography
Current Protocols·2025
<scp>RePOWER</scp> : An International, Prospective, Non‐Interventional Registry of Patients With Primary Mitochondrial Myopathy
Clinical Genetics·2025
A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders
Expert Review of Clinical Pharmacology·2025· 1 cited
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long‐Chain 3‐Hydroxyacyl‐<scp>CoA</scp> Dehydrogenase Deficiency (<scp>LCHADD</scp>)
Journal of Inherited Metabolic Disease·2025· 3 cited
Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders
2025Open Access
Addendum: Laboratory analysis of organic acids, 2018 update: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine·2025Open Access
Metformin restores mitochondrial bioenergetics and redox homeostasis through modulation of mitochondrial biogenesis and dynamics in patient derived cultured fibroblasts and an animal model of molybdenum cofactor deficiency
Biomedicine & Pharmacotherapy·2025· 1 citedOpen Access
Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol
Molecular Genetics and Metabolism·2025
mRNA therapy as primary and bridge therapy for inborn errors of metabolism
Molecular Therapy·2025· 2 cited
Phase 1/2 clinical trial evaluating 4D-310 in adults with Fabry disease cardiomyopathy: Interim analysis of cardiac and safety outcomes in patients with 21–42 months of follow up
Molecular Genetics and Metabolism·2025· 1 cited
Genomic sequencing: the case for equity of care in the era of personalized medicine
Pediatric Research·2025· 6 cited
39: PEDIATRIC SEVERE SEPSIS PROTEOME ASSOCIATES WITH INBORN ERROR OF IMMUNITY-RELATED VARIANT GENOTYPE
Critical Care Medicine·2025
Development of an Investigator Global Assessment of Severity Scale for Propionic and Methylmalonic Acidemias
SSRN Electronic Journal·2025Open Access
P020: Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes
Genetics in Medicine Open·2025Open Access
P049: The long-chain fatty acid oxidation disorders (LC-FAOD) disease monitoring program: An evaluation of initial findings
Genetics in Medicine Open·2025Open Access
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Frequent Co-authors

Barbara K. Burton(8), Piero Rinaldo(8), Regina Ensenauer(6), Dietrich Matern(6), Al‐Walid Mohsen(6), Cary O. Harding(5), George Mazariegos(5), Benjamin L. Shneider(5), Miao He(5), Stephanie J. Mihalik(4), Harvey L. Levy(4), Dorothy K. Grange(4), Rakesh Sindhi(4), Eric S. Goetzman(4), Yu Wang(4), Dianne M. Frazier(3), Bret H. Goodpaster(3), James P. DeLany(3), Johannes Zschocke(3), Georg F. Hoffmann(3)