Monika Winter

Search results

• 2024

  Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

  DDD Study, 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., & 20 othersJenkinson, E. M., 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., 21 Aug 2024, (Submitted) medRxiv, p. 1-51, 51 p.

  Research output: Working paper › Preprint

  File

• Biallelic 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., & 11 othersCarrera, 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., 11 Oct 2024, (Submitted) medRxiv, 19 p.

  Research output: Working paper › Preprint