• 5570 Citations
1975 …2019

Research output per year

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Personal profile

Training Experience

1976Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1978Fellowship, Yale University School of Medicine

Education/Academic qualification

MD, University of Illinois at Chicago College of Medicine

… → 1974

PhD, University of Illinois at Chicago College of Medicine

… → 1974

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Research Output

  • 2 Scopus citations

    Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

    Ganapathi, M., Padgett, L. R., Yamada, K., Devinsky, O., Willaert, R., Person, R., Au, P. Y. B., Tagoe, J., McDonald, M., Karlowicz, D., Wolf, B., Lee, J., Shen, Y., Okur, V., Deng, L., LeDuc, C. A., Wang, J., Hanner, A., Mirmira, R. G., Park, M. H. & 2 others, Mastracci, T. L. & Chung, W. K., Feb 7 2019, In : American journal of human genetics. 104, 2, p. 287-298 12 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Adult-onset biotinidase deficiency: Two individuals with severe, but reversible optic neuropathy

    Deschamps, R., Savatovsky, J., Vignal, C., Fisselier, M., Imbard, A., Wolf, B., Procter, M. & Gout, O., Sep 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 9, p. 1009-1010 2 p.

    Research output: Contribution to journalLetter

    3 Scopus citations