PhD Monika Winter

Assistant Professor

Department: Applied Sciences

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Key Publications

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., Kopajtich, R., Demain, L., Rea, A., Thomas, H., Schiff, M., Beetz, C., Joss, S., Conway, G., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R., Thompson, K., Oláhová, M., He, L., Jenkinson, E., Jahic, A., Belyantseva, I., Barzik, M., Urquhart, J., O'Sullivan, J., Williams, S., Bhaskar, S., Carrera, S., Blakes, A., Banka, S., Yue, W., Ellingford, J., Houlden, H., Munro, K., Friedman, T., Taylor, R., Prokisch, H., O'Keefe, R., Newman, W. 2 Jan 2025, In: American Journal of Human Genetics
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency, Thomas, H., Demain, L., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H., Rea, A., Bharadwaj, T., Smith, T., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J., Stark, Z., Mancilar, H., Tumer, S., Esen, F., Uctepe, E., Topcu, V., Yesilyurt, A., Afzal, E., Salari, M., Carroll, C., Zifarelli, G., Bauer, P., Kor, D., Bulut, F., Houlden, H., Maroofian, R., Carrera, S., Yue, W., Munro, K., Alkuraya, F., Jamieson, P., Ahmed, Z., Leal, S., Taylor, R., Wittig, I., O'Keefe, R., Newman, W. 3 Apr 2025, In: American Journal of Human Genetics
COA5 has an essential role in the early stage of mitochondrial complex IV assembly, Tang, J., Cabrera-Orefice, A., Meisterknecht, J., Taylor, L., Monteuuis, G., Stensland, M., Szczepanek, A., Stals, K., Davison, J., He, L., Hopton, S., Nyman, T., Jackson, C., Pyle, A., Winter, M., Wittig, I., Taylor, R. 1 Mar 2025, In: Life Science Alliance
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease, Fassad, M., Valenzuela, S., Oláhová, M., Collier, J., Knowles, C., Mavraki, E., Elbracht, M., Güzel, N., Herberhold, T., Kurth, I., Maier, A., Mattern, L., Saunders, C., McCullagh, H., Õunap, K., Wortmann, S., Reis, A., Zhang, L., Gustafsson, C., McFarland, R., Taylor, R. 29 Jun 2025, In: Clinical Genetics
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease, Van Haute, L., Páleníková, P., Tang, J., Nash, P., Simon, M., Pyle, A., Oláhová, M., Powell, C., Rebelo-Guiomar, P., Stover, A., Champion, M., Deshpande, C., Baple, E., Stals, K., Ellard, S., Anselem, O., Molac, C., Petrilli, G., Loeuillet, L., Grotto, S., Attie-Bitach, T., Abdenur, J., Taylor, R., Minczuk, M. 13 Jan 2025, In: EMBO Molecular Medicine
RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis, Oláhová, M., Guerra, R., Collier, J., Heidler, J., Thompson, K., White, C., Castañeda-Tamez, P., Cabrera-Orefice, A., Lightowlers, R., Chrzanowska-Lightowlers, Z., Galkin, A., Wittig, I., Pagliarini, D., Taylor, R. 26 Aug 2025, In: EMBO Journal
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, Smith, T., Kopajtich, R., Demain, L., Rea, A., Thomas, H., Schiff, M., Beetz, C., Joss, S., Conway, G., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R., Thompson, K., Oláhová, M., He, L., Jenkinson, E., Jahic, A., Belyantseva, I., Barzik, M., Urquhart, J., O'Sullivan, J., Williams, S., Bhaskar, S., Carrera, S., Blakes, A., Banka, S., Yue, W., Ellingford, J., Houlden, H., Munro, K., Friedman, T., Taylor, R., Prokisch, H., O’Keefe, R., Newman, W. 21 Aug 2024
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency, Thomas, H., Demain, L., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H., Rea, A., Bharadwaj, T., Smith, T., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J., Stark, Z., Carrera, S., Yue, W., Munro, K., Alkuraya, F., Jamieson, P., Ahmed, Z., Leal, S., Taylor, R., Wittig, I., O'Keefe, R., Newman, W. 11 Oct 2024
Mitochondrial signalling and homeostasis: from cell biology to neurological disease, Collier, J., Oláhová, M., McWilliams, T., Taylor, R. 1 Feb 2023, In: Trends in Neurosciences
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54, Smith, T., Rea, A., Thomas, H., Thompson, K., Oláhová, M., Maroofian, R., Zamani, M., He, L., Sadeghian, S., Galehdari, H., Lotan, N., Gilboa, T., Herman, K., McCorvie, T., Yue, W., Houlden, H., Taylor, R., Newman, W., O’Keefe, R. 1 Oct 2023, In: European Journal of Human Genetics

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