University of Münster
CRIS@UM
DE | EN

Dr. med. Judit Horvath

Current affiliations

  • Institute of Human Genetics

Publications

Mitochondrial DNA mutations in Medulloblastoma
Funke V.L.E.; Sandmann S.; Melcher V.; Seggewiss J.; Horvath J.; Jäger N.; Kool M.; Jones D.T.W.; Pfister S.M.; Milde T.; Rutkowski S.; Mynarek M.; Varghese J.; Sträter R.; Rust S.; Seelhöfer A.; Reunert J.; Fiedler B.; Schüller U.; Marquardt T.; Kerl K. (2023)
In: Acta neuropathologica communications, 11(1). doi:10.1186/s40478-023-01602-0
Research article (journal) | Peer reviewed | Published
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
Aprea, Isabella; Raidt, Johanna; Höben, Inga Marlena; Loges, Niki Tomas; Nöthe-Menchen, Tabea; Pennekamp, Petra; Olbrich, Heike; Kaiser, Thomas; Biebach, Luisa; Tüttelmann, Frank; Horvath, Judit; Schubert, Maria; Krallmann, Claudia; Kliesch, Sabine; Omran, Heymut (2021)
In: PLOS Genetics, 17(2). doi:10.1371/journal.pgen.1009306
Research article (journal) | Peer reviewed | Published
L-Fucose treatment of FUT8-CDG.
Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T (2020)
In: Molecular Genetics and Metabolism Reports, 25, 100680-100680. doi:10.1016/j.ymgmr.2020.100680
Research article (journal) | Peer reviewed | Published
Four novel NR5A1 mutations in 46,XY gonadal dysgenesis patients including frameshift mutations with altered subcellular SF-1 localization
Rehkämper J., Tewes A., Horvath J., Scherer G., Wieacker P., Ledig S. (2018)
In: Sexual Development, 11(null), 248-253. doi:10.1159/000484915
Research article (journal) | Peer reviewed | Published
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
Hauke J, Horvath J, Gross E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmuller J, Volk AE, Thiele H, Hubbel V, Nurnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E (2018)
In: Cancer medicine, 7(4), 1349-1358. doi:10.1002/cam4.1376
Research article (journal) | Peer reviewed | Published
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