PhD Monika Winter

Assistant Professor

Department: Applied Sciences

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Key Publications

Please visit the Pure Research Information Portal for further information
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
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
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. 20 Nov 2024, In: EMBO Molecular Medicine
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
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families, Aldosary, M., Alsagob, M., AlQudairy, H., González-Álvarez, A., Arold, S., Dababo, M., Alharbi, O., Almass, R., AlBakheet, A., AlSarar, D., Qari, A., Al-Ansari, M., Oláhová, M., Al-Shahrani, S., AlSayed, M., Colak, D., Taylor, R., AlOwain, M., Kaya, N. 7 Oct 2022, In: Cells
Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms, Nolden, K., Egner, J., Collier, J., Russell, O., Alston, C., Harwig, M., Widlansky, M., Sasorith, S., Barbosa, I., Douglas, A., Baptista, J., Walker, M., Donnelly, D., Morris, A., Tan, H., Kurian, M., Gorman, K., Mordekar, S., Deshpande, C., Samanta, R., McFarland, R., Hill, R., Taylor, R., Oláhová, M. 1 Dec 2022, In: Life Science Alliance
ATG7 safeguards human neural integrity, Collier, J., Oláhová, M., McWilliams, T., Taylor, R. 2 Sep 2021, In: Autophagy
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans, Collier, J., Guissart, C., Oláhová, M., Sasorith, S., Piron-Prunier, F., Suomi, F., Zhang, D., Martinez-Lopez, N., Leboucq, N., Bahr, A., Azzarello-Burri, S., Reich, S., Schöls, L., Polvikoski, T., Meyer, P., Larrieu, L., Schaefer, A., Alsaif, H., Alyamani, S., Zuchner, S., Barbosa, I., Deshpande, C., Pyle, A., Rauch, A., Synofzik, M., Alkuraya, F., Rivier, F., Ryten, M., McFarland, R., Delahodde, A., McWilliams, T., Koenig, M., Taylor, R. 24 Jun 2021, In: New England Journal of Medicine

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