Research output per year
Research output per year
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Dive into the research topics where Saskia Wortmann is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Vaccine safety in children with genetically confirmed mitochondrial disease
de Vreugd, A., Zimmermann, F. A. (First author), Steinbruecker, K. (Co-author), de Vries, M. C., de Boer, L., Janssen, M. C. H., Huemer, M. & Wortmann, S. B. (Last author), Feb 2025, In: IMMUNOLOGY LETTERS . 271, 6 p., 106946.Research output: Contribution to journal › Original Article › peer-review
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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 -
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Blickhaeuser, B., Stenton, S. L., Neuhofer, C. M. (Co-author), Floride, E. (Co-author), Nesbitt, V., Fratter, C., Koch, J. (Co-author), Kauffmann, B., Catarino, C., Schlieben, L. D., Kopajtich, R., Carelli, V., Sadun, A. A., McFarland, R., Fang, F., La Morgia, C., Paquay, S., Nassogne, M. C., Ghezzi, D. & Lamperti, C. & 4 others, , 3 Jun 2024, In: BRAIN . 147, 6, p. 1967-1974 8 p.Research output: Contribution to journal › Original Article › peer-review
Open Access6 Citations (Web of Science) -
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Gruenert, S. C., Gautschi, M., Baker, J., Boyer, M., Burlina, A., Casswall, T., Corpeleijn, W., Ciki, K., Cotter, M., Crushell, E., Derks, T. G. J., Haas, D., Kilavuz, S., Kingma, S. D. K., Korman, S. H., Kozek, A., de Laet, C., Mundy, H., Nassogne, M. C. & Quintero, V. & 8 others, , Jun 2024, In: MOLECULAR GENETICS AND METABOLISM . 142, 2, 6 p., 108486.Research output: Contribution to journal › Original Article › peer-review
1 Citation (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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Pediatric developmental disorders – from gene to tailored treatment
Wortmann, S. (PI)
1/10/20 → 1/10/21
Project: Research
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Pediatric developmental disorders – from gene to tailored treatment Kindliche Entwicklungsstörung – vom Gendefekt zur maßgeschneiderten Behandlung
Wortmann, S. (PI)
1/01/19 → 1/01/22
Project: Research
Prizes
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Kulturfondspreis der Stadt Salzburg - Förderpreis für Forschung
Wortmann, S. (Recipient), 27 Nov 2023
Prize: Honorary award
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NEUROPEDIATRICS (Journal)
Wortmann, S. (Editor in chief)
1 Nov 2024Activity: Publication peer-review and editorial work › Editorial work
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MOLECULAR GENETICS AND METABOLISM (Journal)
Wortmann, S. (Member of editorial board)
10 Dec 2023 → …Activity: Publication peer-review and editorial work › Editorial work
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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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"Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin"
Wortmann, S. (Organiser)
7 Feb 2023 → 9 Feb 2023Activity: Participating in or organising an event › Organising a conference, workshop, ... › participants: NA
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Personalized Mitochondrial Medicine (PerMiM) Meeting
Wortmann, S. (Organiser)
29 Sept 2022 → 30 Sept 2022Activity: Participating in or organising an event › Organising a conference, workshop, ... › participants: NA