Photo of Erin Cooney

Erin Cooney, MD

  • 62 Citations
  • 3 h-Index
20142019
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Fingerprint Dive into the research topics where Erin Cooney is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Exome Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Citric Acid Cycle Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Seizures Medicine & Life Sciences
Transfer RNA Medicine & Life Sciences

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Research Output 2014 2019

  • 62 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 1 2019, In : Molecular Genetics and Metabolism Reports. 19, 100453.

Research output: Contribution to journalArticle

Open Access
Transfer RNA
Liver Transplantation
Cysteine
Sulfur
Electron Transport
7 Citations (Scopus)

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

Citric Acid Cycle
Epilepsy
Citric Acid
Plasmas
Metabolome
20 Citations (Scopus)

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

Exome
Mutation
Megalencephaly
Genetic Association Studies
Intellectual Disability
35 Citations (Scopus)

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., Jan 1 2014, In : American Journal of Human Genetics. 95, 5, p. 579-583 5 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Brain Diseases
Seizures
Mutation
Epilepsy