Elias Nicholas Katsanis

  • 23518 Citations

Research output per year

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Personal profile

Training Experience

2000Postdoctoral Fellowship, Baylor College Of Medicine

Education/Academic qualification

PhD, Imperial College London

… → 1997

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Research Output

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Mizumoto, S., Janecke, A. R., Sadeghpour, A., Povysil, G., McDonald, M. T., Unger, S., Greber-Platzer, S., Deak, K. L., Katsanis, N., Superti-Furga, A., Sugahara, K., Davis, E. E., Yamada, S. & Vodopiutz, J., Mar 1 2020, In : Human mutation. 41, 3, p. 655-667 13 p.

Research output: Contribution to journalArticle

Open Access
  • Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

    Harel, T., Griffin, J. N., Arbogast, T., Monroe, T. O., Palombo, F., Martinelli, M., Seri, M., Pippucci, T., Elpeleg, O. & Katsanis, N., Jun 3 2020, In : Human molecular genetics. 29, 9, p. 1489-1497 9 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

    Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E. H., MacAo, B., Szilagyi, Z., Peron, C., Gustafson, M. A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M. L., Liguori, R. & 27 others, Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S., Sperl, W., Davis, E. E., Copeland, W. C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T. & Carelli, V., Jan 2 2020, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

    Research output: Contribution to journalArticle

    Open Access
  • 5 Scopus citations

    A Genocentric Approach to Discovery of Mendelian Disorders

    Task Force for Neonatal Genomics, Nov 7 2019, In : American journal of human genetics. 105, 5, p. 974-986 13 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations
    Open Access
  • 2 Scopus citations