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Jerry Vockley

university of pittsburgh

78H-index
490Paper Count
1.8WCitation Count
Published Papers 244
Publication Date
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes
err2026-07-07
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errHeather Richbourg; Vanessa Rangel Miller; Omid Khazaie Japalaghi; Moeenaldeen AlSayed; Peter R. Baker; Sean Daugherty; Tali Ekstein; Sarah C. Grünert; Mark J. Kiel; Aneal Khan; Hironori Kobayashi; Lawrence Korngut; Stephanie A. Monteleone; Ida Vanessa D. Schwartz; Nicole Miller; Jerry Vockley
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Immune Dysregulation in Branched Chain Organic Acidemias
err2026-06-30
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errOAAI
errAbdul L. Shakerdi; Jack Drda; Justin A. Dutta; Jerry Vockley
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Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions
err2026-03-03
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errEva Thimm; Anselma Riederer; Jerry Vockley; Dries Dobbelaere; Monique Williams; Anita MacDonald; Katharina Dokoupil; Ulrich A. Schatz; Regina Ensenauer
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Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts
err2026-01-07
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errVieira Neto, Eduardo; Wang, Meicheng; Szuminsky, Austin J.; Ferraro, Lethicia; Basu, Shakuntala; Zhao, Xuejun; Karunanidhi, Anuradha; Wang, Yudong; Vockley, Jerry
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Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
err2026-01-06
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errOAAI
errWendy E. Smith; Susan A. Berry; Kaitlyn Bloom; Christine Brown; Barbara K. Burton; Olivia M. Demarest; Gabrielle P. Jenkins; Jennifer Malinowski; Kim L. McBride; H. Joel Mroczkowski; Curt Scharfe; Jerry Vockley
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Response to Burgard et al
err2026-01-06
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PREAI
errWendy E. Smith; Barbara K. Burton; Christine Brown; Jennifer Malinowski; Kim L. McBride; Jerry Vockley
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Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation
err2025-11-01
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PREAI
errTara A. Lavelle; Jill L. Maron; Stephen F. Kingsmore; Ching-Hsuan Lin; Yingying Zhu; Benjamin Sweigart; Dallas Reed; Bruce D. Gelb; Jerry Vockley; Jonathan M. Davis
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Preparation of Vitrified Mammalian Cells for In Situ Cryo-Electron Tomography
err2025-10-28
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PREAI
errMartin-solana, Eva; Frendi, Sonia; Ning, Jiying; Banks-tibbs, Tabitha; Vockley, Jerry; Freyberg, Zachary
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RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy
err2025-08-11
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PREAI
errAmel Karaa; Amy Goldstein; Bruce H. Cohen; Richard H. Haas; Jerry Vockley; Gráinne S. Gorman; Michelangelo Mancuso; the RePOWER, MMPOWER-3, and MOTOR investigators
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Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol
err2025-05-01
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PREAI
errCrenshaw, M. M.; D'Annibale, O. M.; Schechter, A.; Sethuraman, M.; Porter, C.; Bonn, G.; Wright, E.; Wood, T.; Vockley, J.; Hall, P. L.; McCandless, S. E.
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Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia
err2025-03-01
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PREAI
errShchelochkov, Oleg A.; Davies, Huw; Mohney, Robert P.; Hatch, Ace; Birch, Owen; Ferry, Susan; Van Ryzin, Carol; Hall, Camryn; Mccoy, Samantha; Vockley, Jerry; Kuo, Mickey J. M.; Manoli, Irini; Sloan, Jennifer L.; Venditti, Charles P.
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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
err2025-02-01
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PREAI
errThomas, Mark; Niu, Dau-Ming; Vockley, Jerry; Ortiz, Damara; Jacquez, Nadine; Shen, Jinsong; Sullivan, Theodore; Cohen, Alan
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PEDIATRIC SEVERE SEPSIS PROTEOME ASSOCIATES WITH INBORN ERROR OF IMMUNITY-RELATED VARIANT GENOTYPE
err2025-01-30
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PREAI
errKernan, Kate; Vockley, Jerry; Canna, Scott; Park, Hyun Jung; Notterman, Daniel; Carcillo, Joseph
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Genomic sequencing: the case for equity of care in the era of personalized medicine
err2025-01-22
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PREAI
errGhaloul-Gonzalez, Lina; Parker, Lisa S.; Davis, Jonathan M.; Vockley, Jerry
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Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
err2025-01-01
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PREAI
errSmith, Wendy E.; Berry, Susan A.; Bloom, Kaitlyn; Brown, Christine; Burton, Barbara K.; Demarest, Olivia M.; Jenkins, Gabrielle P.; Malinowski, Jennifer; Mcbride, Kim L.; Mroczkowski, H. Joel; Scharfe, Curt; Vockley, Jerry
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The Carnitine
err2024-12-01
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errOAAI
errLin, Xi; Adams, Sean H.; Vockley, Jerry; Odle, Jack
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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
err2024-11-21
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errOAAI
errKaraa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelango
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Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency
err2024-09-10
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errOAAI
errVieira Neto, Eduardo; Wang, Meicheng; Szuminsky, Austin J.; Ferraro, Lethicia; Koppes, Erik; Wang, Yudong; Land, Clinton Van't; Mohsen, Al-Walid; Zanatta, Geancarlo; El-Gharbawy, Areeg H.; Anthonymuthu, Tamil S.; Tyurina, Yulia Y.; Tyurin, Vladimir A.; Kagan, Valerian; Bayir, Hulya; Vockley, Jerry
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