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Maina Kava

Dr

  • The University of Western Australia (M500), 35 Stirling Highway,

    6009 Perth

    Australia

Calculated based on number of publications stored in Pure and citations from PlumX

Personal profile

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome

    Dupré, M., Warne, D. R. R., Shipman, P., Kava, M., Ghia, T., Loughman, L. & Lakshmanan, R., Sept 2024, In: Pediatric Radiology. 54, 10, p. 1758-1762 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

    Miyake, C. Y., Lay, E. J., Soler-Alfonso, C., Glinton, K. E., Houck, K. M., Tosur, M., Moran, N. E., Stephens, S. B., Scaglia, F., Howard, T. S., Kim, J. J., Pham, T. D., Valdes, S. O., Li, N., Murali, C. N., Zhang, L., Kava, M., Yim, D., Beach, C. & Webster, G. & 14 others, Liberman, L., Janson, C. M., Kannankeril, P. J., Baxter, S., Singer-Berk, M., Wood, J., Mackenzie, S. J., Sacher, M., Ghaloul-Gonzalez, L., Pedroza, C., Morris, S. A., Ehsan, S. A., Azamian, M. S. & Lalani, S. R., Apr 2023, In: Genetics in Medicine. 25, 4, 100352.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    14 Citations (Scopus)

  • SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

    Stefanski, A., Pérez-Palma, E., Brünger, T., Montanucci, L., Gati, C., Klöckner, C., Johannesen, K. M., Goodspeed, K., MacNee, M., Deng, A. T., Aledo-Serrano, Á., Borovikov, A., Kava, M., Bouman, A. M., Hajianpour, M. J., Pal, D. K., Engelen, M., Hagebeuk, E. E. O., Shinawi, M. & Heidlebaugh, A. R. & 26 others, Oetjens, K., Hoffman, T. L., Striano, P., Freed, A. N., Futtrup, L., Balslev, T., Abulí, A., Danvoye, L., Lederer, D., Balci, T., Nouri, M. N., Butler, E., Drewes, S., Van Engelen, K., Howell, K. B., Khoury, J., May, P., Trinidad, M., Froelich, S., Lemke, J. R., Tiller, J., Freed, A. N., Kang, J. Q., Wuster, A., Møller, R. S. & Lal, D., 1 Dec 2023, In: Brain. 146, 12, p. 5198-5208 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    6 Citations (Scopus)

  • 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

    Hertzog, A., Selvanathan, A., Pandithan, D., Kim, W. T., Kava, M. P., Boneh, A., Coman, D., Tolun, A. A. & Bhattacharya, K., Nov 2022, In: JIMD reports. 63, 6, p. 568-574 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    3 Citations (Scopus)

  • FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children

    Riley, L. G., Nafisinia, M., Menezes, M. J., Nambiar, R., Williams, A., Barnes, E. H., Selvanathan, A., Lichkus, K., Bratkovic, D., Yaplito-Lee, J., Bhattacharya, K., Ellaway, C., Kava, M., Balasubramaniam, S. & Christodoulou, J., Jan 2022, In: Molecular Genetics and Metabolism. 135, 1, p. 63-71 9 p.

    Research output: Contribution to journal › Article › peer-review

    13 Citations (Scopus)
View all 20 research outputs