GerardVockleyMDPhD(He/Him)

PubMed

• 3 citations
  Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
  Cary O Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh
  Molecular Genetics and Metabolism Reports. 2024-06-01
• 61 citations
  The Use of External Controls in FDA Regulatory Decision Making
  Mahta Jahanshahi, Keith Gregg, Gillian Davis, Adora Ndu, Veronica Miller
  Therapeutic Innovation & Regulatory Science. 2021-05-20
• 87 citations
  Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
  Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker
  American Journal of Human Genetics. 2015-07-02

Journal Articles

• Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development  
  Vicini P, Fields O, Lai E, Litwack ED, Martin AM, Morgan TM, Pacanowski MA, Papaluca M, Perez OD, Ringel MS, Robson M, Sakul H, Vockley J, Zaks T, Dolsten M, Sogaard M, Clin Pharmacol Ther, 1/1/2016
• Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD  
  Sonnet SD, O' Leary NM, Gutierrez AM, Nguyen MS, Mateen S, Hsu Y, Mitchell PK, Lopez JA, Vockley J, Kennedy K, Ramanathan A, Scientific reports, 1/1/2016
• Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior  
  Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Per..., American Journal of Psychiatry, 1/1/2016
• DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH mouse model of phenylketonuria  
  Dobrowolski SF, Lyons-Weiler J, Spridik K, Vockley J, Skvorak K, Biery A, Mol Genet Metab, 1/1/2016
• Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment-A retrospective char...  
  Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E, Mol Genet Metab, 1/1/2015
• Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder  
  Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Ko..., Genet Med, 1/1/2015
• c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate  
  Vockley J, et al, Journal of Biological Chemistry, 1/1/2014
• Newborn Screening Follow-up Guideline—Second Edition; CLSI document NBS02-A2  
  Tuerck J, Wilcken B, Webster DR, Forsman I, Kemper AR, Millington D, Ostrup J, Therrell BL, Torresani T, Vockley J, Clinical and Laboratory Standards Institute, 1/1/2013
• Introduction: Neurodevelopmental issues in inborn errors of metabolism  
  Arnold GL, Vockley J, Introduction: Neurodevelopmental issues in inborn errors of metabolism, 1/1/2013
• Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures  
  Belachew D, Kazmerski T, Libman I, Goldstein AC, Stevens ST, Deward S, Vockley J, Sperling MA, Balest AL, JIMD reports, 1/1/2013
• Neuropsychiatric Symptoms in Inborn Errors of Metabolism: Incorporation of Genomic and Metabolomic Analysis into Therapeutics and Prevention  
  Pan L, Vockley J, Current genetic medicine reports, 1/1/2013
• Book review: Inborn metabolic diseases Diagnosis and treatment (5th edition)  
  Vockley J, Molecular genetics and metabolism, 1/1/2012
• Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United network for organ sharing experience  
  Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, Shellmer D, Shneider B, Vockley J, Strauss KA, The Journal of pediatrics, 1/1/2012
• Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate  
  Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederb..., Hepatology, 1/1/2012
• Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid...  
  Luis PB, Ruiter JP, Ijlst L, Tavares de Almeida I, Duran M, Mohsen AW, Vockley J, Wanders RJ, Silva MF, Drug metabolism and disposition: the biological fate of chemicals, 1/1/2011
• Thoroughly modern medicine  
  Arnold GL, Vockley J, Molecular genetics and metabolism, 1/1/2011
• Efficient and gentle siRNA delivery by magnetofection  
  Ensenauer R, Hartl D, Vockley J, Roscher A, Fuchs U, Biotechnic & histochemistry, 1/1/2011
• GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour  
  Pan L, McKain BW, Madan-Khetarpal S, McGuire M, Diler RS, Perel JM, Vockley J, Brent DA, BMJ case reports, 1/1/2011
• Trading places: liver transplantation as a treatment, not a cure, for metabolic liver disease  
  Shneider BL, Vockley J, Mazariegos GV, Liver transplantation : official publication of the American Association for the Study of Liver, 1/1/2011
• Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes  
  Wang Y, Mohsen AW, Mihalik SJ, Goetzman ES, Vockley J, The Journal of biological chemistry, 1/1/2010
• Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples  
  Talkowski ME, McClain L, Allen T, Bradford LD, Calkins M, Edwards N, Georgieva L, Go R, Gur R, Kirov G, Chowdari K, Kwentus J, Lyons P, Mansour H, McEvoy J, O'Donovan ..., American journal of medical genetics Part B, Neuropsychiatric genetics, 1/1/2009
• Short-chain acyl-CoA dehydrogenase gene mutation (c319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish...  
  Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N, Mol Genet Metab, 1/1/2008
• Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus  
  Petrykowska HM, Vockley CM, Elnitski L, Genome Res, 1/1/2008
• Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R  
  McAndrew RP, Vockley J, Kim JJ, Journal of Inherited Metabolic Disease, 1/1/2008
• Short-chain acyl-coenzyme A dehydrogenase deficiency  
  Jethva R, Bennett MJ, Vockley J, Molecular Genetics & Metabolism, 1/1/2008
• Join now to see all

Books/Book Chapters

• The Online Metabolic and Molecular Basis of Inherited Disease 
  Chapter: Mitochondrial Fatty Acid Oxidation Disorders 
  Vockley J, Gillingham MB, Matern DEditors: Valle D.McGraw Hill, New York, NY2016
• The Online Metabolic and Molecular Bases of Inherited Disease 
  Chapter: Mitochondrial Fatty Acid Oxidation Disorders 
  Vockley J, Bennett MJ, Gillingham MBEditors: Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson KM,  Mitchell G.The McGraw-Hill Companies, Inc., New York, NY2016
• Pediatric Endocriniology and Inborn Errors of Metabolism  
  Chapter: Mitochondrial Fatty Acid Oxidation Defects 
  Vockley J, Longo N, Andresen BS, Bennett MJEditors: Sarafoglou K, Hoffman GF, Roth K.McGraw-Hill Companies2016
• Intellectual & Developmental Research Reviews 
  Editors: Vockley J, Arnold G (Guest Editor).2013
• Modern Nutrition in Health and Disease 
  Chapter: Inherited lipid disorders of beta-oxidation 
  Page 970 - 980Vockley J, Wolfe L, Renaud DLEditors: Ross AC, Caballero B, Cousins R, Tucker K, Ziegler T.Wolters kluwer/Lippincott Williams & Wilkins, Philadelphia, PA2013
• The Online Metabolic and Molecular Basis of Inherited Disease 
  Chapter: Branched Chain Organic Acidurias 
  Vockley J, Zschocke J, Knerr I, Walsh Vockley C, Gibson KMEditors: Valle D.McGraw Hill, New York, NY2012
• Diagnosis and Treatment of Inborn Errors of Metabolism 
  Chapter: Vademecum Metabolicum 
  Editors: Vockley J (Co-Editor), Zschocke J, Hoffmann GF.Milupa Metabolics GmbH & Co., GermanyEdition 3rd,2011
• Digenic inheritance 
  Vockley J2010
• The Metabolic and Molecular Basis of Inherited Disease 
  Chapter: Branched Chain Organic Acidemias 
  Vockley J, Gibson KM, Knerr I, Zschocker JEditors: Valle D.McGraw Hill, NYEdition 8th,2010
• Emery and Rimoin’s Principles and Practice of Medical Genetics 
  Chapter: Organic acidemias and disorders of fatty acid oxidation 
  Vockley JEditors: Rimoin, D.Churchill Livingstone, London, England2010
• Medium-chain acyl-CoA dehydrogenase deficiency 
  Vockley J2010
• Modern Nutrition in Health and Disease 
  Chapter: Defects of Beta-oxidation 
  Page 1057 - 1070Vockley JEditors: Shils ME, Olson JA, Shihe M and Ross AC.Williams and Wilkins, Baltimore, MDEdition 11th,2010
• Manual of Metabolic Paediatrics 
  Chapter: The Vademecum Metabolicum 
  Vockley JEditors: Vockley J (Co-Editor), Zschocke J, Hoffmann GF.Milupa Metabolics GmbH & Co., GermanyEdition 2nd,2004
• Methods in Enzymology 
  Chapter: Mammalian branched-chain acyl-CoA dehydrogenases: Molecular Cloning and Characterization of the Recombinant Enzymes 
  Vockley J, Mohsen A-W Binzak BA, Willard JM, and Fauq, AHEditors: Sokatch JR,Harris RA.Academic Press, San Diego, CA2000
• Flavins and Flavoproteins 1999. Proceedings of the Thirteenth International Symposium, Konstanz 
  Chapter: Biochemical Characteristics of Recombinant Human Isovaleryl-CoA Dehydrogenase Pre-Treated with Ethylenediaminetetraacetate 
  Page 515 - 518Mohsen A-W, Vockley JEditors: Ghisla S, Kroneck P, Macheroux P, Sund H.Agency for Scientific Publications, Berlin, Germany1999
• Flavins and Flavoproteins 
  Chapter: Biochemical characteristics of recombinant human isovaleryl-CoA dehydrogenase pre-treated with ethylenediaminetetraacetate 
  Page 515 - 518Mohsen A-W, Vockley JEditors: Ghisla S, Kroneck P, Macheroux P, Sund H.Rudolf Weber, New York, NY1999
• Flavins and Flavoproteins, 1996 
  Tiffany KA, Ming W, Paschke R, Mohsen A-W, Vockley J, Kim J-JPUniversity of Calgary Press, Calgary, Canada1997
• Flavins and Flavoproteins 
  Chapter: The acyl-CoA dehydrogenases: some mechanistic aspects 
  Page 597 - 603Thorpe C, Schaller RA, Mohsen A-W, Vockley JUniversity of Calgary Press, Calgary, Canada1996
• GeneReviews(R) 
  Chapter: Short-Chain Acyl-CoA Dehydrogenase Deficiency 
  Wolfe L, Jethva R, Oglesbee D, Vockley JEditors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K.GeneReviews, Seattle, WA1993
• Flavins and Flavoproteins 
  Chapter: Three dimensional structures of acyl-CoA dehydrogenases: structural basis of substrate specificity 
  Page 273 - 282Kim J-JP, Wang M, Paschke R, Djordjevic S, Bennett DW, Vockley JEditors: Yagi K.Walter deGruyter, New York, NY1993
• Principles and Practice of Medical Genetics 
  Chapter: Organic Acidemias and Disorders of Fatty Acid Oxidation 
  Editors: Emory and Rimoin.Harcourt Health Sciences CompaniesEdition 5th,
• Pediatric Endocrinology and Inborn Errors of Metabolism 
  Chapter: Mitochondrial Fatty Acid Oxidation Defects 
  Vockley J, Longo N, Andresen B, and Bennett MJEditors: Sarafoglou, Hoffman, and Roth.McGraw-Hill Professional
• Join now to see all

Lectures

• A Plain Population Genome Project 
  South Bend, IN - 1/1/2016
• Advances in fatty acid oxidation research 
  Boston, MA - 1/1/2016
• Novel therapies for disorders of fatty acid oxidation 
  Ponte Vedre, FL - 1/1/2016
• Emerging clinical trials for fatty acid oxidation disorders 
  Lyon, France - 1/1/2015
• Mitochondrial respiratory chain disorders in the Old Order Amish Population 
  Salt Lake City, UT - 1/1/2015
• Results from a randomized trial of triheptanoin compared to MCT oil in patients with long chain fatty acid oxidation defects 
  Salt Lake City, UT - 1/1/2015
• Infantile hypophosphatasia 
  Memphis, TN - 1/1/2014
• The mitochondrial architecture of energy metabolism 
  Pittsburgh, PA - 1/1/2014
• Transplant for metabolic disease 
  Ottowa, CA - 1/1/2014
• The molecular Architecture of Mitochondrial Energy Metabolism 
  Barcelona, Spain - 1/1/2013
• Novel therapy of long chain fatty acid oxidation disorders using triheptanoin 
  Barcelona, Spain - 1/1/2013
• Molecular Architecture of Mitochondrial Energy Metabolism 
  Barcelona, Spain - 1/1/2013
• Moonlighting in mitochondria; ACAD9 plays a duel role in energy metabolism in mitochondria 
  Barcelona, Spain - 1/1/2013
• Development of a New PKU Guideline 
  1/1/2013
• Personalized medicine and inborn errors of metabolism 
  1/1/2012
• Long chain fatty acid oxidation disorders 
  1/1/2012
• Clinical trials for mitochondrial myopathies 
  1/1/2011
• Changes in the mitochondrial proteome in fatty acid oxidation deficient mice 
  Istanbul, Turkey - 1/1/2010
• New developments in the treatment of fatty acid oxidation disorders 
  Albuquerque, NM - 1/1/2010
• Characterization of a multi-functional protein complex containing the mitochondrial respiratory chain and fatty acid oxidation 
  San Diego, CA - 1/1/2009
• New enzymes of long chain fatty acid metabolism 
  San Diego, CA - 1/1/2009
• A new inborn error of sterol metabolism 
  Asilomar, CA - 1/1/2008
• Tissue specificity of mitochondrial Beta-oxidation 
  Fulda, Germany - 1/1/2008
• The latest outcome and clinical trials in PKU treatment 
  Phoenix, AZ - 1/1/2008
• Energy metabolism as a complex genetic trait 
  Lisbon, Spain - 1/1/2008
• Join now to see all

Other

• Mitochondrial myopathies. PREP Audio Series 
  Vockley J, Cohen B, and Wang, L-J, American Academy of Pediatrics
  1/1/2010
• The acyl-CoA dehydrogenases: Some mechanistic aspects 
  Thorpe C, Schaller RA, Mohsen A-W, Vockley J, University of Calgary Press
  Calgary, Canada - 1/1/1997