Johannes A. Mayr

Phone+43 57255 26281
Websitehttps://salk.at/3951.html

Research activity per year

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

199 Original Article
71 Abstract (Journal)
19 Case report
8 Review article
More

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease
Heath, O. (First author), Del Cano-Ochoa, F., Baris, S., Carrozzo, R., Coman, D., Distelmaier, F., Ellaway, C., Feichtinger, R. G. (Co-author), Finocchi, A., Guerrero-Castillo, S., Halligan, R., Hannibal, I., Kritzer, A., Lichter-Konecki, U., Merkevicius, K., Panis, B., Pitceathly, R. D. S., Pizzamiglio, C., Iwanicka-Pronicka, K. & Rahman, S. & 8 others, Seltzer, L., Siepermann, M., Tal, G., Wevers, R. A., Zietkiewicz, S., Ramon-Maiques, S., Mayr, J. A. (Last author) & Wortmann, S. B. (Last author), Apr 2026, In: MOLECULAR GENETICS AND METABOLISM . 147, 4, 15 p., 109752.
Research output: Contribution to journal › Original Article › peer-review

Open Access
Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene
Gasparini, G., Kraus, C., Rusha, E., Orschmann, T., Wortmann, S. B. (Co-author), Mayr, J. H. (Co-author), Ardissone, A. & Iuso, A., Feb 2026, In: Stem Cell Research. 90, 5 p., 103892.
Research output: Contribution to journal › Original Article › peer-review

Open Access
1 Citation (Web of Science)
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
Oxidative phosphorylation patterns in pituitary adenoma/neuroendocrine tumors
Jentus, M. M., Feichtinger, R. G. (Co-author), Corver, W. E., Huber, S. (Co-author), Ebner, L. (Co-author), Pelsma, I., Bakker, L., Van Furth, W., Verstegen, M., Biermasz, N., Mayr, J. A. (Co-author) & Morreau, H., 11 Mar 2026, In: Pituitary. 29, 2, 12 p., 51.
Research output: Contribution to journal › Original Article › peer-review

Open Access
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
4 Citations (Web of Science)

1 Active
5 Finished

GENOMIT: A multi-omics approach for diagnostics and monitoring of mitochondrial disorders
Mayr, J. A. (PI), Achleitner, M. (Further contributor), Feichtinger, R. (Further contributor) & Wortmann, S. (Further contributor)
1/07/23 → 1/07/26
Project: Research
GENOMIT - Global registry, genomics, toward clinical trials
Mayr, J. A. (PI)
1/06/20 → 1/06/23
Project: Research
Investigation of disorders in the pathway of ADP ribosylation in pediatric patients
Mayr, J. A. (PI), Koch, J. (Further contributor) & Feichtinger, R. (Further contributor)
1/09/19 → 1/11/20
Project: Research
BAIAP2 mutations - a novel genetic cause of epileptic encephalopathy
Mayr, J. A. (PI) & Koch, J. (CoPI)
1/12/18 → 1/12/19
Project: Research
Mitochondrial Disease: Clinics, Genetics, Mechanism & Therapy (GENOMIT)
Mayr, J. A. (PI)
1/07/16 → 1/07/19
Project: Research

Exceptional Achievement in the Field Innovation and Translation for Impelenting the PMU Science Applications GmbH Award of the Paracelsus Medical University
Mayr, J. A. (Recipient), 2021
Prize
Forscher des Jahres der Paracelsus Medizinischen Privatuniversität Salzburg
Mayr, J. A. (Recipient), 2011
Prize
Goldener Wissenschaftspreis der Paracelsus Medizinischen Privatuniversität Salzburg
Mayr, J. A. (Recipient), 2011
Prize
Otto-Kraupp-Preis für die beste medizinsche Habilitation in Österreich (2. Preis)
Mayr, J. A. (Recipient), 2014
Prize
Sanofi Preis
Mayr, J. A. (Recipient), 2012
Prize

18 Publication Peer-review
10 Organising a conference, workshop, ...
6 Supervision
3 Committee
More
- 1 Cooperation

Tagung der Arbeitsgruppe für angeborene Stoffwechselstörungen der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde
Wortmann, S. (Organiser) & Mayr, J. A. (Organiser)
6 May 2025 → 7 May 2025
Activity: Participating in or organising an event › Organising a conference, workshop, ... › participants: 21-50
Arbeitsgemeinschaft Pädiatrische Stoffwechselerkrankungen (APS), Jahreskongress 2023, "Multi-Omics in (daily) metabolic life" )
Wortmann, S. (Organiser) & Mayr, J. A. (Organiser)
7 Mar 2023 → 10 Mar 2023
Activity: Participating in or organising an event › Organising a conference, workshop, ... › participants: 201-500
Diagnosis, characterization and treatment of rare genetic diseases identified by whole-exome sequencing
Mayr, J. A. (Supervisor)
2023
Activity: Examination, Supervision or Reviewing of graduation work › Supervision
Characterization of Pathogenic Variants of Mitochondrial Carriers and Transporters With the Use of Biochemical Methods: Revealing Novel Mutations and Deletions in Patient Samples
Mayr, J. A. (Co-Supervisor)
2022
Activity: Examination, Supervision or Reviewing of graduation work › Supervision
Austrian Society for Paediatrics and Adolecent Medicine
Mayr, J. A. (Other)
2021 → 2023
Activity: Other scientific activities › Committee

Johannes A. Mayr

Personal profile

Fingerprint

Research output

Projects

Prizes

Activities