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).

Research article (journal)

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.

Research article (journal)

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).

Research article (journal)

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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). Research article (journal)
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). Research article (journal)
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. Research article (journal)
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). Research article (journal)
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). Research article (journal)
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer Neidhardt G., Becker A., Hauke J., Horváth J., Bogdanova Markov N., Heilmann-Heimbach S., Hellebrand H., Thiele H., Altmüller J., Nürnberg P., Meindl A., Rhiem K., Blümcke B., Wappenschmidt B., Schmutzler R., Hahnen E. (2017) In: European Journal of Cancer Prevention, 26(2). Research article (journal)