Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Barth Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Mitochondrial Diseases Medicine & Life Sciences
Inborn Errors Metabolism Medicine & Life Sciences
Cardiolipins Medicine & Life Sciences
Exome Medicine & Life Sciences
Chromosome Deletion Medicine & Life Sciences
Plasmas Chemical Compounds

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Research Output 1999 2018

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems

Kuszak, A. J., Espey, M. G., Falk, M. J., Holmbeck, M. A., Manfredi, G., Shadel, G. S., Vernon, H. J. & Zolkipli-Cunningham, Z. Jan 24 2018 In : Annual Review of Pathology: Mechanisms of Disease. 13, p. 163-191 29 p.

Research output: Contribution to journalReview article

Mitochondrial Diseases
Oxidative Phosphorylation
Animal Models
Nutritive Value

Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2

Kartvelishvili, E., Tworowski, D., Vernon, H., Moor, N., Wang, J., Wong, L. J., Chrzanowska-Lightowlers, Z. & Safro, M. 2017 (Accepted/In press) In : Protein Science.

Research output: Contribution to journalArticle

Amino Acyl-tRNA Synthetases
Gene encoding

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K. , Zhai, S. , Elsbecker, S. A. , Arnold, G. L. , Burton, B. K. , Vockley, J. , Cameron, C. A. , Hiner, S. J. , Edick, M. J. , Berry, S. A. , Thomas, J. , Dodge, M. , Singh, R. , Lakshman, S. , Coakley, K. , Stembridge, A. , Russi, A. S. , Phillips, E. , Burton, B. , Edano, C. & 30 others Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P. & Kronn, D. Sep 1 2016 In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Newborn Infant

Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function

Sandlers, Y., Mercier, K., Pathmasiri, W., Carlson, J., McRitchie, S., Sumner, S. & Vernon, H. J. 2016 In : PloS one. 11, 3, p. e0151802

Research output: Contribution to journalArticle

Barth Syndrome

New targets for monitoring and therapy in Barth syndrome

Thompson, W. R., Decroes, B., Mcclellan, R., Rubens, J., Vaz, F. M., Kristaponis, K., Avramopoulos, D. & Vernon, H. J. Oct 1 2016 In : Genetics in Medicine. 18, 10, p. 1001-1010 10 p.

Research output: Contribution to journalArticle

Barth Syndrome