Erin Cooney, MD

  • 80 Citations
  • 3 h-Index

Research output per year

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Research Output

  • 80 Citations
  • 3 h-Index
  • 4 Article

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency

Soler-Alfonso, C., Pillai, N., Cooney, E., Mysore, K. R., Boyer, S. & Scaglia, F., Jun 2019, In : Molecular Genetics and Metabolism Reports. 19, 100453.

Research output: Contribution to journalArticle

Open Access
  • 1 Scopus citations

    Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

    Bainbridge, M. N., Cooney, E., Miller, M., Kennedy, A. D., Wulff, J. E., Donti, T., Jhangiani, S. N., Gibbs, R. A., Elsea, S. H., Porter, B. E. & Graham, B. H., Aug 1 2017, In : Molecular Genetics and Metabolism. 121, 4, p. 314-319 6 p.

    Research output: Contribution to journalArticle

  • 12 Scopus citations

    Novel EED mutation in patient with Weaver syndrome

    Cooney, E., Bi, W., Schlesinger, A. E., Vinson, S. & Potocki, L., Feb 1 2017, In : American Journal of Medical Genetics, Part A. 173, 2, p. 541-545 5 p.

    Research output: Contribution to journalArticle

  • 26 Scopus citations

    Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

    Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C. H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C. T., Barbaro-Dieber, T., Kukolich, M. K., Burrage, L. C., Austin, E., Keller, K., Pastore, M., Fernandez, F., Lotze, T., Wilfong, A., Purcarin, G. & 18 others, Zhu, W., Craigen, W. J., McGuire, M., Jain, M., Cooney, E., Azamian, M., Bainbridge, M. N., Muzny, D. M., Boerwinkle, E., Person, R. E., Niu, Z., Eng, C. M., Lupski, J. R., Gibbs, R. A., Beaudet, A. L., Yang, Y., Wang, M. C. & Xia, F., 2014, In : American Journal of Human Genetics. 95, 5, p. 579-583 5 p.

    Research output: Contribution to journalArticle

  • 41 Scopus citations