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  • 1 Similar Profiles
Genes Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Citrulline Medicine & Life Sciences
Gene Deletion Medicine & Life Sciences
Microarray Analysis Medicine & Life Sciences
Oligonucleotides Medicine & Life Sciences

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Grants 2011 2031

Research Output 1999 2016

  • 298 Citations
  • 8 Scopus h-Index
  • 11 Article
  • 1 Letter

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

Ahmad, A. & 81 others 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., 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., 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: Contribution to journalArticle

Acyl-CoA Dehydrogenase
Newborn Infant
Inborn Errors Metabolism
2 Citations

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Bjoraker, K. J., Swanson, M. A., Coughlin, C. R., Christodoulou, J., Tan, E. S., Fergeson, M., Dyack, S., Ahmad, A., Friederich, M. W., Spector, E. B., Creadon-Swindell, G., Hodge, M. A., Gaughan, S., Burns, C. & Van Hove, J. L. K. Mar 1 2016 In : Journal of Pediatrics. 170, p. 234-239 6 p.

Research output: Contribution to journalArticle

Nonketotic Hyperglycinemia
Sodium Benzoate

Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte

Quinonez, S. C., Seeley, A. H., Seeterlin, M., Stanley, E. & Ahmad, A. 2014 In : Molecular Genetics and Metabolism Reports. 1, 1, p. 345-349 5 p.

Research output: Contribution to journalArticle

Maple Syrup Urine Disease
Dihydrolipoamide Dehydrogenase
Newborn Infant
15 Citations

Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2-q34.3

Xu, W., Ahmad, A., Dagenais, S., Iyer, R. K. & Innis, J. W. Mar 2012 In : American Journal of Medical Genetics, Part A. 158 A, 3, p. 635-640 6 p.

Research output: Contribution to journalArticle

Chromosome Deletion
Congenital Heart Defects
Hydroxyprostaglandin Dehydrogenases
4 Citations

Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis

Singer, B. H., Iyer, R. K., Kerr, D. S. & Ahmad, A. Sep 2010 In : Molecular Genetics and Metabolism. 101, 1, p. 87-89 3 p.

Research output: Contribution to journalArticle

Agenesis of Corpus Callosum
Pyruvate Dehydrogenase Complex
Lactic Acidosis
Gene Dosage
Gene Deletion