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Monika Winter

PhD, Dr, Dr

 https://orcid.org/0000-0002-4082-3875
  • 598
    Citations

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  • Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

    Lambton, J., Asano, S., Huang, Y., Suomi, F., Eguchi, T., Petree, C., Huang, K., Prigent, M., Imam, A., McCorvie, T. J., Warren, D., Hobson, E., McCullagh, H., Misceo, D., Bjerre, A., Smeland, M. F., Klingenberg, C., Frengen, E., Naik, S. & Ryan, G. & 21 others, Sudarsanam, A., Foster, K., Vasudevan, P., Samanta, R., Rahman, F., Maqbool, S., Udani, V., Efthymiou, S., Houlden, H., McFarland, R., Collier, J. J., Maroofian, R., Yue, W. W., Varshney, G. K., Klionsky, D. J., Legouis, R., McWilliams, T. G., Mizushima, N., Oláhová, M., Alston, C. L. & Taylor, R. W., 7 May 2026, In: American Journal of Human Genetics. 113, 5, p. 1090-1107 18 p.

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

    Open Access
    File
    3 Downloads (Pure)

  • Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease

    Fassad, M. R., Valenzuela, S., Oláhová, M., Collier, J. J., Knowles, C. V. Y., Mavraki, E., Elbracht, M., Güzel, N., Herberhold, T., Kurth, I., Maier, A., Mattern, L., Saunders, C., McCullagh, H., Õunap, K., Wortmann, S. B., Reis, A., Zhang, L., Gustafsson, C. M. & McFarland, R. & 1 others, Taylor, R. W., 1 Jan 2026, In: Clinical Genetics. 109, 1, p. 167-175 9 p.

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

    Open Access
    File
    3 Citations (Scopus)
    70 Downloads (Pure)

  • Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

    Smith, T. B., Kopajtich, R., Demain, L. A. M., Rea, A., Thomas, H. B., Schiff, M., Beetz, C., Joss, S., Conway, G. S., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R. I. C., Thompson, K., Oláhová, M., He, L. & Jenkinson, E. M. & 19 others, Jahic, A., Belyantseva, I. A., Barzik, M., Urquhart, J. E., O'Sullivan, J., Williams, S. G., Bhaskar, S. S., Carrera, S., Blakes, A. J. M., Banka, S., Yue, W. W., Ellingford, J. M., Houlden, H., Munro, K. J., Friedman, T. B., Taylor, R. W., Prokisch, H., O'Keefe, R. T. & Newman, W. G., 2 Jan 2025, In: American Journal of Human Genetics. 112, 1, p. 59-74 16 p.

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

    Open Access
    File
    9 Citations (Scopus)
    15 Downloads (Pure)

  • Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    Thomas, H. B., Demain, L. A. M., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H. E., Rea, A., Bharadwaj, T., Smith, T. B., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J. M. & Stark, Z. & 26 others, Mancilar, H., Tumer, S., Esen, F. N., Uctepe, E., Topcu, V., Yesilyurt, A., Afzal, E., Salari, M., Carroll, C., Zifarelli, G., Bauer, P., Kor, D., Bulut, F. D., Houlden, H., Maroofian, R., Carrera, S., Yue, W. W., Munro, K. J., Alkuraya, F. S., Jamieson, P., Ahmed, Z. M., Leal, S. M., Taylor, R. W., Wittig, I., O'Keefe, R. T. & Newman, W. G., 3 Apr 2025, In: American Journal of Human Genetics. 112, 4, p. 952-962 12 p.

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

    Open Access
    File
    5 Citations (Scopus)
    18 Downloads (Pure)

  • COA5 has an essential role in the early stage of mitochondrial complex IV assembly

    Tang, J. X., Cabrera-Orefice, A., Meisterknecht, J., Taylor, L. S., Monteuuis, G., Stensland, M. E., Szczepanek, A., Stals, K., Davison, J., He, L., Hopton, S., Nyman, T. A., Jackson, C. B., Pyle, A., Winter, M., Wittig, I. & Taylor, R. W., 1 Mar 2025, In: Life Science Alliance. 8, 3, 12 p., e202403013.

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

    Open Access
    File
    7 Citations (Scopus)
    21 Downloads (Pure)
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