ZFIN ID: ZDB-PERS-200124-1
Horvath, Rita
Email: rh732@medschl.cam.ac.uk
URL:
Affiliation: Horvath Lab
Address: Director of Research (Clinical) - Genetics of Rare Neurological Disorders Department of Clinical Neurosciences, University of Cambridge John Van Geest Cambridge Centre for Brain Repair The ED Adrian Building Forvie Site, Robinson Way Cambridge CB2 0PY
Country: United Kingdom
Phone: +44 (0) 1223 762092
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Accogli, A., Lin, S.J., Severino, M., Kim, S.H., Huang, K., Rocca, C., Landsverk, M., Zaki, M., Al-Maawali, A., Srinivasan, V.M., Al-Thihli, K., Schaefer, G.B., Davis, M., Tonduti, D., Doneda, C., Marten, L.M., Mühlhausen, C., Gomez, M., Lamantea, E., Mena, R., Nizon, M., Procaccio, V., Begtrup, A., Telegrafi, A., Cui, H., Schulz, H.L., Mohr, J., Biskup, S., Loos, M.A., Aráoz, H.V., Salpietro, V., Keppen, L.D., Chitre, M., Petree, C., Raymond, L., Vogt, J., Swayer, L.B., Basinger, A.A., Pedersen, S.V., Pearson, T.S., Grange, D.K., Lingapp, L., McDunnah, P., Horvath, R., Cogne, B., Isidor, B., Hahn, A., Gripp, K., Jafarnejad, S.M., Ostergaard, E., Prada, C.E., Ghezzi, D., Gowda, V.K., Taylor, R.W., Sonenberg, N., Houlden, H., Sissler, M., Varshney, G.K., Maroofian, R. (2023) Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 25(11):100938
Van Haute, L., O'Connor, E., Díaz-Maldonado, H., Munro, B., Polavarapu, K., Hock, D.H., Arunachal, G., Athanasiou-Fragkouli, A., Bardhan, M., Barth, M., Bonneau, D., Brunetti-Pierri, N., Cappuccio, G., Caruana, N.J., Dominik, N., Goel, H., Helman, G., Houlden, H., Lenaers, G., Mention, K., Murphy, D., Nandeesh, B., Olimpio, C., Powell, C.A., Preethish-Kumar, V., Procaccio, V., Rius, R., Rebelo-Guiomar, P., Simons, C., Vengalil, S., Zaki, M.S., Ziegler, A., Thorburn, D.R., Stroud, D.A., Maroofian, R., Christodoulou, J., Gustafsson, C., Nalini, A., Lochmüller, H., Minczuk, M., Horvath, R. (2023) TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications. 14:10091009
Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., Sickmann, A., Kuechler, A., Kaiser, F., Kölbel, H., Christiansen, J., Schara-Schmidt, U., Roos, A. (2021) Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. The Journal of pathology. 256(1):93-107
Müller, J.S., Burns, D.T., Griffin, H., Wells, G.R., Zendah, R.A., Munro, B., Schneider, C., Horvath, R. (2020) RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels. Life science alliance. 3(8):
Munro, B., Horvath, R., Müller, J.S. (2018) Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok-/- zebrafish. Human molecular genetics. 28(5):796-803
Chaouch, A., Porcelli, V., Cox, D., Edvardson, S., Scarcia, P., De Grassi, A., Pierri, C.L., Cossins, J., Laval, S.H., Griffin, H., Müller, J.S., Evangelista, T., Töpf, A., Abicht, A., Huebner, A., von der Hagen, M., Bushby, K., Straub, V., Horvath, R., Elpeleg, O., Palace, J., Senderek, J., Beeson, D., Palmieri, L., Lochmüller, H. (2014) Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. Journal of neuromuscular diseases. 1:75-90

NON-ZEBRAFISH PUBLICATIONS