No photo of Johannes A. Mayr

Johannes A. Mayr

Priv.-Doz. Dr

 https://orcid.org/0000-0001-6970-336X
1996 …2026

Research activity per year

Personal profile

Fingerprint

Dive into the research topics where Johannes A. Mayr is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
  • 1 Similar Profiles
View full fingerprint

  • Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity

    Zubarovskaya, N., Mayr, J. A. (Co-author), Aigner, E. (Co-author), Strebinger, G., Kalkan-Ucar, S., Lawitschka, A. & Wortmann, S. B. (Last author), Jan 2026, In: MOLECULAR GENETICS AND METABOLISM . 147, 1, 4 p., 109688.

    Research output: Contribution to journal › Original Article › peer-review

  • Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations

    Guillouet, C., Agostini, V., Baujat, G., Cocciadiferro, D., Pippucci, T., Lesieur-Sebellin, M., Georget, M., Schatz, U., Fauth, C., Louie, R. J., Rogers, C., Davis, J. M., Konstantopoulou, V., Mayr, J. A. (Co-author), Bouman, A., Wilke, M., VanNoy, G. E., England, E. M., Park, K. L. & Brown, K. & 30 others, Saenz, M., Novelli, A., Digilio, M. C., Mastromoro, G., Rongioletti, M. C. A., Piacentini, G., Kaiyrzhanov, R., Guliyeva, S., Hasanova, L., Shears, D., Bhatnagar, I., Stals, K., Klaas, O., Horvath, J., Bouvagnet, P., Witmer, P. D., MacCarrick, G., Cisarova, K., Good, J.-M., Gorokhova, S., Boute, O., Smol, T., Bruel, A.-L., Patat, O., Broadbent, J. R., Tan, T. Y., Tan, N. B., Lyonnet, S., Busa, T. & Graziano, C., 3 Apr 2025, In: AMERICAN JOURNAL OF HUMAN GENETICS . 112, 4, p. 829-845 18 p.

    Research output: Contribution to journal › Original Article › peer-review

    3 Citations (Web of Science)

  • Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

    Jurkute, N., Brennenstuhl, H., Kustermann, M., Van Haute, L., Mutti, C. D., Bugiardini, E., Handa, T., Shimura, M., Petzold, A., Acheson, J., Robson, A. G., Macken, W. L., Hanna, M. G., Pitceathly, R. D. S., Merve, A., Kotzaeridou, U., Koelker, S., Freilinger, M., Erdler, M. & Bittner, R. E. & 11 others, Mayr, J. A. (Co-author), Okazaki, Y., Murayama, K., Prokisch, H., Webster, A. R., Minczuk, M., Arno, G., Pemp, B., Hoffmann, G. F., Schmidt, W. M. & Yu-Wai-Man, P., Jun 2025, In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . 66, 6, 18 p., 17.

    Research output: Contribution to journal › Original Article › peer-review

    Open Access
    1 Citation (Web of Science)

  • Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

    Kröll-Hermi, A., Stoetzel, C., Etard, C., Halabelian, L., Schaefer, E., Scheidecker, S., Kahrizi, K., Payman, J., Geoffroy, V., Prasad, M., Obringer, C., Ruch, L., Girard, A., Zeng, H., Li, F., Plassard, D., Keime, C., Mattioli, F., Feger, C. & Piton, A. & 69 others, Fujita, A., Matsumoto, N., Castro, M. A. A., Ae, K. C., Ruaud, L., Levy, J., Dozières, B., Tabet, A.-C., Wentzensen, I. M., Santiago-Sim, T., Yusupov, R., Tveten, K., Smeland, M. F., Alkhunaizi, E., Cowing, G., Li, C., Wortmann, S. B. (Co-author), Feichtinger, R. G. (Co-author), Mayr, J. A. (Co-author), Gonorazky, H., Jing, G., Wang, X., Wang, J., Bierhals, T., Grinstein, L., Herget, T., Ruiz, A., Gabau, E., Kampmeier, A., Kassel, O., Kuechler, A., Platzer, K., Jamra, R. A., Woerner, A., Idleburg, M., Kircher, S. G., Laccone, F., Golob, B., Peterlin, B., Čuturilo, G., Tasic, V., Kolvenbach, C. M., Hildebrandt, F., Ramos, L. L. P., Kok, F., Buck, C. B., van de Laar, I. M. B. H., de Man, S. A., Taşdelen, E., Sezer, A., Büke, A., Yavuz, Z., Çomoğlu, S. S., Costin, C., Tran Mau Them, F., Lacaze, E., Courtin, T., Héron, D., Keren, B., Whalen, S., Roume, J., Yang, Y., Hoffer, M. J. V., van Haeringen, A., Najmabadi, H., Arrowsmith, C. H., Strähle, U., Dollfus, H. & Muller, J., 18 Nov 2025, (E-pub ahead of print) In: AMERICAN JOURNAL OF HUMAN GENETICS .

    Research output: Contribution to journal › Original Article › peer-review

    Open Access

  • Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

    Jacob, M., Kölbel, H., Harrer, P., Kopajtich, R., Munot, P., Achleitner, M. T. (Co-author), Badmann, S., Brugger, M., Brunet, T., Bonne, G., Codina, M., Ebner, L. (Co-author), Eshraghi, P., Eyring, K., Farhat, A. S., Feichtinger, R. G. (Co-author), Graf, E., Marcé-Grau, A., Hahn, A. & Houlden, H. & 35 others, Karimiani, E. G., Manel, V., Mayerhanser, K., Nectoux, J., Nelson, I., Phadke, R., Prokisch, H., Sadeghian, S., Saparov, A., Schänzer, A., Schara-Schmidt, U., Schmidt, J., Schuler, R. (Co-author), Sewry, C., Shariati, G., Slanz, S., Smirnov, D., Sukenik-Halevy, R., Tajsharghi, H., Toosi, M. B., Trujillano, L., Weis, J., Wilson, L. C., Ben Yaou, R., Zamani, M., Zech, M., Zschüntzsch, J., Kornak, U., Goméz-Andrés, D., Maroofian, R., Winkelmann, J., Roos, A., Distelmaier, F., Mayr, J. A. (Co-author) & Wagner, M., 11 Jun 2025, (E-pub ahead of print) In: BRAIN .

    Research output: Contribution to journal › Original Article › peer-review

View all 312 research outputs
View all 6 projects
View all 9 prizes
View all 38 activities