Jerry Vockley

Also affiliated with UPMC Health System, Pittsburgh Public Schools, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Center for Genomic Science

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 50 papers. Top paper: “Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy”.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Neurology(2023)10.1212/wnl.0000000000207402

N/A

1.5DataRank · unranked

72 citations

Enrico Bertini, Valério Carelli, Bruce H. Cohen, Gregory M. Enns, Marni J. Falk +59 more

Survey of Health Care Provider Understanding of Gene Therapy Research for Inherited Metabolic Disorders

Clinical Therapeutics(2022)10.1016/j.clinthera.2022.07.002

N/A

1.0DataRank · unranked

14 citations

Radha Ramachandran, Jerry Vockley, Joyanna Hansen

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

Frontiers in Genetics(2021)10.3389/fgene.2020.598760

N/A

0.550DataRank · unranked

38 citations

Ahmad Alodaib, Steven F. Dobrowolski, Al‐Walid Mohsen, Jerry Vockley, Evgenia Sklirou

Metabolic features of treatment-refractory major depressive disorder with suicidal ideation

Translational Psychiatry(2023)10.1038/s41398-023-02696-9

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0.533DataRank · unranked

34 citations

Jane C. Naviaux, Lin Wang, Kefeng Li, Jonathan M. Monk, Sai Sachin Lingampelly +8 more

Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome

Nature Metabolism(2023)10.1038/s42255-023-00926-4

N/A

0.489DataRank · unranked

25 citations

Yulia Y. Tyurina, Karolina Mikulska‐Ruminska, Deena Damschroder, Eduardo Vieira Neto, Alessia Lasorsa +30 more

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis

Journal of Clinical Immunology(2022)10.1007/s10875-021-01183-4

N/A

0.483DataRank · unranked

24 citations

Lina Ghaloul‐Gonzalez, Jerry Vockley, Janette Lamb, Deborah Hollingshead, Uma Chandran +21 more

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Genetics in Medicine(2023)10.1016/j.gim.2023.100022

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0.477DataRank · unranked

23 citations

Nicola Brunetti‐Pierri, Wendy K. Chung, Angus Clarke, Nina B. Gold, Robert C. Green +6 more

Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12492

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0.442DataRank · unranked

18 citations

Erik Koppes, Meena Sethuraman, Kaitlyn Bloom, Al‐Walid Mohsen, Jerry Vockley +1 more

Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency

JCI Insight(2024)10.1172/jci.insight.176887

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0.434DataRank · unranked

17 citations

Meicheng Wang, Austin J. Szuminsky, L. Ferraro, Erik Koppes, Yu Wang +11 more

Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107689

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0.409DataRank · unranked

7 citations

Shakuntala Basu, Xuejun Zhao, Olivia D’Annibale, Clinton Van’t Land, Jerry Vockley +2 more

Development and characterization of a mouse model for Acad9 deficiency

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.09.002

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0.385DataRank · unranked

12 citations

Al‐Walid Mohsen, Kailyn Bloom, Anuradha Karunanidhi, Sivakama S. Bharathi, Yijen Wu +6 more

Natural history of propionic acidemia in the Amish population

Molecular Genetics and Metabolism Reports(2022)10.1016/j.ymgmr.2022.100936

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0.385DataRank · unranked

12 citations

Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley +2 more

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

Molecular Genetics and Metabolism Reports(2022)10.1016/j.ymgmr.2022.100932

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0.269DataRank · unranked

5 citations

Paige Heiman, Olivia D’Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne McGuire +8 more

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism

Molecular Genetics & Genomic Medicine(2023)10.1002/mgg3.2283

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0.241DataRank · unranked

4 citations

April N. Lehman, Hatice Gökcan, Lorna Cropcho, Danielle Black, Steven F. Dobrowolski +3 more

Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109005

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0.165DataRank · unranked

2 citations

Huw Davies, Robert P. Mohney, Ace J. Hatch, Owen Birch, Susan Ferry +9 more

ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice

PLoS ONE(2020)10.1371/journal.pone.0242445

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0.165DataRank · unranked

2 citations

Anuradha Karunanidhi, Kimimasa Tobita, Charles L. Hoppel, Edda Thiels, Eloise Peet +4 more

Treatment of VLCAD deficient patient fibroblasts with peroxisome-proliferator activated receptor δ agonist improves cellular bioenergetics

Research Square(2022)10.21203/rs.3.rs-1530711/v1

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0DataRank · unranked

2 citations

Yu Leng Phua, Clinton Van’t Land, Anuradha Karunanidhi, Alejandro Dorenbaum, Al‐Walid Mohsen +2 more

Premature aging and reduced cancer incidence associated with near-complete body-wide Myc inactivation

Cell Reports(2023)10.1016/j.celrep.2023.112830

N/A

0DataRank · unranked

30 citations

Jie Lu, Taylor Stevens, Alexander Roberts, Jordan A. Mandel, Raghunandan Avula +13 more

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model

Human Molecular Genetics(2023)10.1093/hmg/ddad076

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0DataRank · unranked

13 citations

Al‐Walid Mohsen, Stephanie J. Mihalik, Keaton J. Solo, Shakuntala Basu, Ermal Aliu +14 more

Challenges and strategies for clinical trials in propionic and methylmalonic acidemias

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107612

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0DataRank · unranked

13 citations

Barbara K. Burton, Agnieszka Jurecka, Jitendra Ganju, Beth Leiro, Roberto T. Zori +2 more

Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys

Antioxidants(2023)10.3390/antiox12040900

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0DataRank · unranked

5 citations

Haley Arbore, Elizabeth Childs, Amy B. Huynh, Yu Leng Phua, Chi‐Wei Chen +12 more

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107605

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0DataRank · unranked

4 citations

Angela Leshinski, Nicole Ducich, Leigh Anne Flore, April Rasala Lehman, Natasha Shur +10 more

Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107519

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0DataRank · unranked

4 citations

Angela Horgan, Ashley Gregor, Jerry Vockley, Cary O. Harding, Melanie B. Gillingham +1 more

Loss of the mitochondrial carrier, SLC25A1, during embryogenesis induces a unique senescence program controlled by p53

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.07.18.549409

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0DataRank · unranked

5 citations

Mingjun Tan, Raneen Rahhal, Alec McIntosh, Harvey R. Fernandez, Rami Mosaoa +7 more

Premature Aging and Reduced Cancer Incidence Associated with Near-Complete Body-Wide Myc Inactivation

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.30.526354

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0DataRank · unranked

2 citations

Jie Lu, Taylor Stevens, Alexander Roberts, Jordan A. Mandel, Raghunandan Avula +13 more

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

The Knowledge Bank (The Ohio State University)(2023)10.1101/2023.02.02.526527

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0DataRank · unranked

0 citations

Olivia D’Annibale, Anuradha Karunanidhi, Al‐Walid Mohsen, Brian Kirmse, Steven F. Dobrowolski +2 more

Response to Beretich and Beretich

Genetics in Medicine(2023)10.1016/j.gim.2023.100903

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0DataRank · unranked

0 citations

Nicola Brunetti‐Pierri, Wendy K. Chung, Angus Clarke, Nina B. Gold, Robert C. Green +6 more

A proposal for an updated staging system for LCHADD retinopathy

Ophthalmic Genetics(2024)10.1080/13816810.2024.2303682

N/A

0DataRank · unranked

14 citations

Melanie B. Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O. Harding +8 more

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12738

N/A

0DataRank · unranked

9 citations

Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L. Scanga +7 more

Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53

Cell Death and Differentiation(2024)10.1038/s41418-024-01428-w

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0DataRank · unranked

4 citations

Mingjun Tan, Raneen Rahhal, Alec McIntosh, Harvey R. Fernandez, Rami Mosaoa +7 more

A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108495

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0DataRank · unranked

6 citations

Olivia D’Annibale, Anuradha Karunanidhi, Al‐Walid Mohsen, Brian Kirmse, Steven F. Dobrowolski +2 more

Body‐Wide Inactivation of the Myc‐Like Mlx Transcription Factor Network Accelerates Aging and Increases the Lifetime Cancer Incidence

Advanced Science(2024)10.1002/advs.202401593

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0DataRank · unranked

2 citations

Taylor A. Stevens, Jie Lu, Alexander Roberts, Clinton Van’t Land, Radhika Muzumdar +4 more

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD)

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70060

N/A

0DataRank · unranked

4 citations

Dongseok Choi, Ashley Gregor, Elaine Sim, Alison Lau, Danielle Black +12 more

The Genetic Landscape and Epidemiology of Phenylketonuria

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.006

N/A

0DataRank · unranked

384 citations

Yair Anikster, Amaya Bélanger-Quintana, Alberto B. Burlina, Barbara K. Burton, Carla Carducci +43 more

Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.06.24.661304

N/A

0DataRank · unranked

0 citations

Yuxun Zhang, Sivakama S. Bharathi, Bob B. Zhang, Adam C. Richert, Alexandra V. Schmidt +7 more

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

JCI Insight(2020)10.1172/jci.insight.141523

N/A

0DataRank · unranked

45 citations

Bethany K. Redel, Marie A. Johnson, Kristen J. Skvorak, Lina Ghaloul‐Gonzalez, Megan E. Yates +21 more

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Genetics in Medicine(2020)10.1038/s41436-019-0739-z

N/A

0DataRank · unranked

33 citations

Emmalie A. Jager, Derk P. Allersma, Ayşe Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray +19 more

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.09.001

N/A

0DataRank · unranked

31 citations

Dietrich Matern, Jerry Vockley, Cary O. Harding, Melanie B. Gillingham, Gabriela Elizondo

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

UNC Libraries(2020)10.17615/9f48-xb59

N/A

0DataRank · unranked

0 citations

Patricia L. Splett, Sandra C. Van Calcar, Rani H. Singh, Amy Cunningham, Beth Ogata +7 more

Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly

iScience(2021)10.1016/j.isci.2021.103153

N/A

0DataRank · unranked

27 citations

Baoying Lou, Zhuji Fu, Al‐Walid Mohsen, Anna L. Shen, Jerry Vockley +2 more

Structure–activity relationship of avocadyne

Food & Function(2021)10.1039/d1fo00693b

N/A

0DataRank · unranked

16 citations

Vitor L. S. Cunha, Nawaz Ahmed, Xiaofan Liu, Richard W. Smith, Kevin A. Rea +8 more

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.08.012

N/A

0DataRank · unranked

10 citations

Erik Koppes, Ahmad Alodaib, Catherine Kochersperger, Anuradha Karunanidhi, Al‐Walid Mohsen +2 more

Successful orthotopic heart transplantation in CPTII deficiency

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.04.005

N/A

0DataRank · unranked

0 citations

Jessie Yester, Elizabeth McCracken, Brian Feingold, Jerry Vockley, Georgianne L. Arnold

Biomarkers for drug development in propionic and methylmalonic acidemias

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12478

N/A

0DataRank · unranked

45 citations

Jörn Oliver Sass, Agnieszka Jurecka, Jerry Vockley, Nicola Longo

Mitochondrial dysfunction associated with TANGO2 deficiency

Scientific Reports(2022)10.1038/s41598-022-07076-9

N/A

0DataRank · unranked

48 citations

Al‐Walid Mohsen, Anuradha Karunanidhi, Claudette M. St. Croix, Simon C. Watkins, Erik Koppes +4 more

Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1

Kidney International(2022)10.1016/j.kint.2022.07.003

N/A

0DataRank · unranked

36 citations

Yu Leng Phua, Amy B. Huynh, Blake T. McCourt, Brittney M. Rush, Roderick J. Tan +6 more

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.106982

N/A

0DataRank · unranked

16 citations

Al‐Walid Mohsen, Stephanie J. Mihalik, Keaton J. Solo, Ermal Aliu, Huifang Shi +13 more

Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.04.001

N/A

0DataRank · unranked

15 citations

Gregory M. Enns, Antonio Nino Ramirez, Camille L. Bedrosian, Bridget Reineking, Xiaoxiao Lu +4 more

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

Molecular Genetics and Metabolism Reports(2022)10.1016/j.ymgmr.2022.100884

N/A

0DataRank · unranked

14 citations

Jerry Vockley, Otobo Ujah, Russell S. Kirby, Mathew J. Edick, Susan A. Berry +2 more

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32016

N/A

0DataRank · unranked

9 citations

Thomas Defay, Aaron J. Goldenberg, Amy Gaviglio, Jerry Vockley