Research output per year
Research output per year
Personal profile
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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
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Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency
Penkl, M., Mayr, J. A. (Co-author), Feichtinger, R. G. (Co-author), Reilmann, R., Debus, O., Fobker, M., Penkl, A., Reunert, J., Rust, S. & Marquardt, T., 20 Apr 2024, In: METABOLITES. 14, 4, 12 p., 238.Research output: Contribution to journal › Original Article › peer-review
Open Access -
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
Weis, D., Lin, L. L., Wang, H. H., Li, Z. J., Kusikova, K., Ciznar, P., Wolf, H. M., Leiss-Piller, A., Wang, Z., Wei, X., Weis, S., Skalicka, K., Hrckova, G., Danisovic, L., Soltysova, A., Yang, T. T., Feichtinger, R. G. (Last author), Mayr, J. A. (Last author) & Qi, L., 16 Jan 2024, In: JOURNAL OF CLINICAL INVESTIGATION. 134, 2, 15 p., e170882.Research output: Contribution to journal › Original Article › peer-review
Open Access5 Citations (Web of Science) -
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Smith, C., Laugel-Haushalter, V., Hany, U., Best, S., Taylor, R., Poulter, J., Wortmann, S. (Co-author), Feichtinger, R. (Co-author), Mayr, J. (Co-author), Al Bahlani, S., Nikolopoulos, G., Rigby, A., Black, G., Watson, C., Mansour, S., Inglehearn, C., Mighell, A., Bloch-Zupan, A., UK Inherited Retinal Dystrophy Consortium (UKIRDC) & Genomes England Research Consortium (GERC), Jul 2024, In: JOURNAL OF MEDICAL GENETICS . 61, 7, p. 689-698 10 p.Research output: Contribution to journal › Original Article › peer-review
Open Access1 Citation (Web of Science) -
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
Wortmann, S. B. (First author), Feichtinger, R. G. (Co-author), Abela, L., van Gemert, L. A., Aubart, M., Dufeu-Berat, C.-M., Boddaert, N., de Coo, R., Stühn, L., Hebbink, J., Heinritz, W., Hildebrandt, J., Himmelreich, N., Korenke, C., Lehman, A., Leyland, T., Makowski, C., Martinez Marin, R. J., Marzin, P. & Mühlhausen, C. & 15 others, , Apr 2024, In: NEUROLOGY-GENETICS. 10, 2, p. e200146 13 p., e200146.Research output: Contribution to journal › Original Article › peer-review
Open Access -
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Manzoni, E., Carli, S., Gaignard, P., Schlieben, L. D., Hirano, M., Ronchi, D., Gonzales, E., Shimura, M., Murayama, K., Okazaki, Y., Barić, I., Petkovic Ramadza, D., Karall, D., Mayr, J. (Co-author), Martinelli, D., La Morgia, C., Primiano, G., Santer, R., Servidei, S. & Bris, C. & 22 others, , 3 May 2024, In: BRAIN COMMUNICATIONS. 6, 3, p. fcae160 14 p., fcae160.Research output: Contribution to journal › Original Article › peer-review
Open Access4 Citations (Web of Science)
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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
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GENOMIT - Global registry, genomics, toward clinical trials
Mayr, J. A. (PI)
1/06/20 → 1/06/23
Project: Research
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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
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BAIAP2 mutations - a novel genetic cause of epileptic encephalopathy
Mayr, J. A. (PI) & Koch, J. (CoPI)
1/12/18 → 1/12/19
Project: Research
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Mitochondrial Disease: Clinics, Genetics, Mechanism & Therapy (GENOMIT)
Mayr, J. A. (PI)
1/07/16 → 1/07/19
Project: Research
Prizes
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Forscher des Jahres der Paracelsus Medizinischen Privatuniversität Salzburg
Mayr, J. A. (Recipient), 2011
Prize
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Otto-Kraupp-Preis für die beste medizinsche Habilitation in Österreich (2. Preis)
Mayr, J. A. (Recipient), 2014
Prize
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Activities
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Arbeitsgemeinschaft Pädiatrische Stoffwechselerkrankungen (APS), Jahreskongress 2024, "Multi-Omics in (daily) metabolic life" )
Wortmann, S. (Organiser) & Mayr, J. A. (Organiser)
7 Mar 2023 → 10 Mar 2023Activity: Participating in or organising an event › Organising a conference, workshop, ... › participants: NA
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Diagnosis, characterization and treatment of rare genetic diseases identified by whole-exome sequencing
Mayr, J. A. (Supervisor)
2023Activity: Examination, Supervision or Reviewing of graduation work › Supervision
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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)
2022Activity: Examination, Supervision or Reviewing of graduation work › Supervision
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Austrian Society for Paediatrics and Adolecent Medicine
Mayr, J. A. (Other)
2021 → 2023Activity: Other scientific activities › Committee
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PARP-1 inhibition: a novel therapeutic target for neurodegenerative disease
Mayr, J. A. (Co-Supervisor)
2020Activity: Examination, Supervision or Reviewing of graduation work › Supervision