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

  • 2 Similar Profiles
Mutation Medicine & Life Sciences
Barth Syndrome Medicine & Life Sciences
Plasmas Chemical Compounds
Therapeutics Medicine & Life Sciences
Cardiolipins Medicine & Life Sciences
Inborn Errors Metabolism Medicine & Life Sciences
Amino Acids Chemical Compounds
Phenotype Medicine & Life Sciences

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Research Output 1999 2017

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: Research - peer-reviewArticle

Kinetics
Mutation
Aminoacylation
Genes
Amino Acyl-tRNA Synthetases

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. & 62 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., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S. Sep 1 2016 In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Research - peer-reviewArticle

Acyl-CoA Dehydrogenase
Metabolism
Health
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: Research - peer-reviewArticle

cardiolipins
metabolomics
pathogenesis
metabolites
Cardiolipins

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: Research - peer-reviewArticle

Barth Syndrome
Cardiolipins
Therapeutics
Genotype
Exercise

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Pipitone, A., Raval, D. B., Duis, J., Vernon, H., Martin, R., Hamosh, A., Valle, D. & Gunay-Aygun, M. 2016 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Lyases
Coenzyme A
Pregnancy
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Carnitine