René Feichtinger

Research output

Research output per year 2007 2014 2016 2017 2018 2019 2020 2021 2022 2023 2024 2025

• 92 Original Article
• 16 Abstract (Journal)
• 10 Review article
• 9 Case report
• 6 More
  • 4 Letter to the editor
  • 1 Chapter
  • 1 Correction

Research output per year

Research output per year

Search results

• 2025

  Mitochondrial Oxidative Phosphorylation Alterations in Placental Tissues from Early- and Late-Onset Preeclampsia

  Lehenauer, T., Jaksch-Bogensperger, H., Huber, S., Weghuber, D., Fischer, T., Mayr, J. A., Kofler, B., Neumayer, B., Gharehbaghi, D., Duggan-Peer, M., Brandstetter, M., Fazelnia, C. & Feichtinger, R. G., 22 Apr 2025, In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 26, 9

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

  • Oxidative Phosphorylation 100%
  • Maternal Age 33%
  • Mitochondrial Respiration 33%
  • Gestation Period 22%
• 2024

  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

  • Aconitase 100%
  • Triheptanoin 100%
  • Aconitate Hydratase 100%
  • Citric Acid Cycle 50%
  • Citrate 50%

• 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 Access

  • Fibronectin 100%
  6 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 Access

  • Dideoxynucleotide Sequencing 100%
  1 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, Rio, M., Rotig, A., Roux, C.-J., Schiff, M., Haack, T. B., Syrbe, S., Zylicz, S. A., Thiel, C., Veiga da Cunha, M., van Schaftingen, E., Wagner, M., Mayr, J. A. (Co-author), Wevers, R. A., Boltshauser, E. & Willemsen, M. A., Apr 2024, In: NEUROLOGY-GENETICS. 10, 2, p. e200146 13 p., e200146.

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

  Open Access

  • Glucose Transporter 100%

• Loss-of-Function Variants in <i>CUL3</i> Cause a Syndromic Neurodevelopmental Disorder

  Blackburn, P. R., Ebstein, F., Hsieh, T.-C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogne, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A. & Joset, P. & 59 others, Ferrero, G. B., Ciolfi, A., Husson, T., Guerrot, A.-M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpal, J., Jech, R., Winkelmann, J., Koprusakova, M. T., Konstantopoulou, V., Younce, J. R., Shinawi, M., Mighton, C., Fung, C., Morel, C. F., Lerner-Ellis, J., Ditroia, S., Barth, M., Bonneau, D., Krapels, I., Stegmann, A. P. A., van Der Schoot, V., Brunet, T., Bussmann, C., Mignot, C., Zampino, G., Wortmann, S. B. (Co-author), Mayr, J. A. (Co-author), Feichtinger, R. G. (Co-author), Courtin, T., Ravelli, C., Keren, B., Ziegler, A., Hasadsri, L., Pichurin, P. N., Klee, E. W., Grand, K., Sanchez-Lara, P. A., Krueger, E., Bezieau, S., Klinkhammer, H., Krawitz, P. M., Eichler, E. E., Tartaglia, M., Kuery, S. & Wang, T., 20 Sept 2024, In: ANNALS OF NEUROLOGY . 14 p.

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

  • CUL3 100%
  • Cullin 25%
  • Protein Stability 25%
  • Genetics 12%
  • Mental Retardation 12%
  1 Citation (Web of Science)

• Missense variants in the TRPMr7 α-kinase domain are associated with recurrent pediatric acute liver failure

  Schlieben, L. D., Achleitner, M. T. (Co-author), Bourke, B., Diesner, M., Feichtinger, R. G., Fichtner, A., Flechtenmacher, C., Hadzic, N., Hegarty, R., Heilos, A., Janecke, A., Konstantopoulou, V., Lenz, D., Mayr, J. A. (Co-author), Mueller, T., Prokisch, H. & Vogel, G. F., Dec 2024, In: HEPATOLOGY COMMUNICATIONS. 8, 12, 11 p., e0598.

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

  Open Access

  • Phosphotransferase 100%
  • TRPM7 41%
  • Proteomics 28%
  • Transient Receptor Potential Channel M7 25%
  • Magnesium Ion 16%
  1 Citation (Web of Science)
• 2023

  Ageing is associated with a reduction in markers of mitochondrial energy metabolism in the human epidermis.

  Vidali, S. (First author), Feichtinger, R. (Co-author), Emberger, M., Brunner, S. (Co-author), Gaisbauer, S. (Co-author), Blatt, T., Smiles, W. (Co-author), Kreutzer, C. (Co-author), Weise, J. M. & Kofler, B. (Last author), 2023, In: EXPERIMENTAL DERMATOLOGY . 32, 6, p. 900-905

  Research output: Contribution to journal › Original Article › peer-review
  5 Citations (Web of Science)

• Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

  van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. (Co-author), Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A. (Co-author), Hempel, M. & Wittig, I., 2023, In: MOLECULAR GENETICS AND METABOLISM . 140, 3, p. 107675

  Research output: Contribution to journal › Original Article › peer-review
  3 Citations (Web of Science)

• Galanin System in the Human Bile Duct and Perihilar Cholangiocarcinoma.

  Huber, S. (First author), Fitzner, T., Feichtinger, R. (Co-author), Hochmann, S. (Co-author), Kraus, T. (Co-author), Sotlar, K. (Co-author), Kofler, B. (Co-author) & Varga, M. (Last author), 21 Jun 2023, In: CELLS. 12, 13

  Research output: Contribution to journal › Original Article › peer-review
  1 Citation (Web of Science)

• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

  Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D. & Das, A. M. & 41 others, Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J.-S., Weghuber, D. (Co-author) & Wortmann, S. (Last author), 2023, In: GENETICS IN MEDICINE . 25, 6, p. 100314

  Research output: Contribution to journal › Original Article › peer-review
  10 Citations (Web of Science)

• Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

  Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. (Co-author), Achleitner, M. (Co-author), Lawrence Merritt Ii, J., Pérez, B. & Ugarte, M. & 11 others, Grünewald, S., Riela, A. R., Julve, N., Arnoux, J.-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A. (Co-author), Rodriguez-Pombo, P. & Van Hove, J. L. K., 2023, In: HUMAN MOLECULAR GENETICS . 32, 6, p. 917-933

  Research output: Contribution to journal › Original Article › peer-review
  8 Citations (Web of Science)

• PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

  Achleitner, M. T. (First author), Jans, J. J. M., Ebner, L., Spenger, J. (Co-author), Konstantopoulou, V., Feichtinger, R. G. (Co-author), Brugger, K., Mayr, D., Wevers, R. A., Thiel, C., Wortmann, S. B. (Last author) & Mayr, J. A. (Last author), 10 Nov 2023, In: METABOLITES. 13, 11

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

  Open Access

  • Metabolic Pathway 100%
  • Pyrophosphatase 100%
  • Newborn Screening 100%
  • Inorganic Pyrophosphatase 100%
  • Galactose 100%

• Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

  Kusiková, K., Soltysová, A., Ficek, A., Feichtinger, R. (Co-author), Mayr, J. (Co-author), Skopková, M., Gasperíková, D., Kolníková, M., Ornig, K., Kalev, O., Weis, S. & Weis, D., 2023, In: GENES. 14, 12

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

  Open Access

  • Genotype Phenotype Correlation 100%
  • Muscle Disorder 100%
  • Missense 33%
  • Myotubularin 33%
  • Mortality Rate 33%

• PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

  Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., Hsieh, T.-C., Golnik, R., Baldridge, D., Forster, C., de Konink, C., Teurlings, S. M. W., Vignard, V., van Jaarsveld, R. H., Ades, L. & Cogné, B. & 54 others, Mignot, C., Deb, W., Jongmans, M. C. J., Cole, F. S., van den Boogaard, M.-J. H., Wambach, J. A., Wegner, D. J., Yang, S., Hannig, V., Brault, J. A., Zadeh, N., Bennetts, B., Keren, B., Gélineau, A.-C., Powis, Z., Towne, M., Bachman, K., Seeley, A., Beck, A. E., Morrison, J., Westman, R., Averill, K., Brunet, T., Haasters, J., Carter, M. T., Osmond, M., Wheeler, P. G., Forzano, F., Mohammed, S., Trakadis, Y., Accogli, A., Harrison, R., Guo, Y., Hakonarson, H., Rondeau, S., Baujat, G., Barcia, G., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Preisel, M., Laumonnier, F., Kallinich, T., Knaus, A., Isidor, B., Krawitz, P., Völker, U., Hammer, E., Droit, A., Eichler, E. E., Elgersma, Y., Hildebrand, P. W., Bolduc, F., Krüger, E. & Bézieau, S., 31 May 2023, In: SCIENCE TRANSLATIONAL MEDICINE. 15, 698, p. eabo3189

  Research output: Contribution to journal › Original Article › peer-review
  11 Citations (Web of Science)

• Triple Therapy with Metformin, Ketogenic Diet, and Metronomic Cyclophosphamide Reduced Tumor Growth in MYCN-Amplified Neuroblastoma Xenografts

  Catalano, L. (First author), Aminzadeh-Gohari, S. (Co-author), Weber, D. (Co-author), Poupardin, R. (Co-author), Stefan, V. (Co-author), Smiles, W. (Co-author), Tevini, J. (Co-author), Feichtinger, R. (Co-author), Derdak, S., Bilban, M., Bareswill, S., Heimesaat, M. & Kofler, B. (Last author), 2023, In: METABOLITES. 13, 8, p. 910

  Research output: Contribution to journal › Original Article › peer-review
  5 Citations (Web of Science)
• 2022

  Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.

  Carvalhal, S., Bader, I. (First author), Rooimans, M. A., Oostra, A. B., Balk, J. A., Feichtinger, R. (Co-author), Beichler, C., Speicher, M. R., van Hagen, J. M., Waisfisz, Q., van Haelst, M., Bruijn, M., Tavares, A., Mayr, J. A. (Co-author), Wolthuis, R. M. F., Oliveira, R. A. & de Lange, J., 2022, In: SCIENCE ADVANCES. 8, 3, p. eabk0114

  Research output: Contribution to journal › Original Article › peer-review
  18 Citations (Web of Science)

• Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

  Kaiyrzhanov, R., Mohammed, S. E. M., Maroofian, R., Husain, R. A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R. (Co-author), Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S. & Bai, R. & 34 others, Bibi, F., Horga, A., Martinez-Agosto, J. A., Lam, A., Manole, A., Rodriguez, D.-P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J. A. (Co-author), Bertini, E. S., Ghezzi, D., Østergaard, E., Wortmann, S. (Co-author), Carrozzo, R., Haack, T. B., Taylor, R. W., Spinazzola, A., Nowikovsky, K. & Houlden, H., 2022, In: AMERICAN JOURNAL OF HUMAN GENETICS . 109, 9, p. 169-1712

  Research output: Contribution to journal › Original Article › peer-review
  5 Citations (Web of Science)

• Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.

  Schneider, A. M. (First author), Özsoy, M., Zimmermann, F. (Co-author), Brunner, S. (Co-author), Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Kofler, B. (Co-author), Neureiter, D. (Co-author), Klieser, E. (Co-author), Aigner, E. (Co-author), Schütz, S., Stummer, N., Sperl, W. (Co-author) & Weghuber, D. (Last author), 2022, In: Oxidative Medicine and Cellular Longevity . 2022, p. 9151169

  Research output: Contribution to journal › Original Article › peer-review
  8 Citations (Web of Science)

• Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease

  Stummer, N., Weghuber, D. (Co-author), Feichtinger, R. G., Huber, S. (Co-author), Mayr, J. A. (Co-author), Kofler, B. (Co-author), Neureiter, D. (Co-author), Klieser, E. (Co-author), Hochmann, S. (Co-author), Lauth, W. (Co-author) & Schneider, A. M. (Last author), Nov 2022, In: Antioxidants. 23 p.

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

  • Pediatrics 100%
  • Hydrogen Sulfide 100%
  • Intestine Mucosa 100%
  • Inflammatory Bowel Disease 100%
  • Enzyme 100%
  9 Citations (Web of Science)

• Ketogenic diets slow melanoma growth in vivo regardless of tumor genetics and metabolic plasticity.

  Weber, D. (First author), Aminzadeh-Gohari, S. (First author), Thapa, M., Redtenbacher, A.-S., Catalano, L. (Co-author), Capelôa, T., Vazeille, T., Emberger, M., Felder, T. (Co-author), Feichtinger, R. (Co-author), Koelblinger, P. (Co-author), Dallmann, G., Sonveaux, P., Lang, R. (Co-author) & Kofler, B. (Last author), 2022, In: CANCER & METABOLISM. 10, 1, p. 12

  Research output: Contribution to journal › Original Article › peer-review
  15 Citations (Web of Science)

• Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

  Zech, M., Kopajtich, R., Steinbrücker, K. (First author), Bris, C., Gueguen, N., Feichtinger, R. (Co-author), Achleitner, M. (Co-author), Duzkale, N., Périvier, M., Koch, J. (Co-author), Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R. J. T., Pais, L. S. & Austin-Tse, C. & 14 others, O"Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S. C., Wilbert, F., Kruer, M. C., Wortmann, S. (Co-author), Eckenweiler, M., Mayr, J. A. (Co-author), Distelmaier, F., Steinfeld, R., Winkelmann, J. & Prokisch, H., 2022, In: ANNALS OF NEUROLOGY . 91, 2, p. 225-237

  Research output: Contribution to journal › Original Article › peer-review
  24 Citations (Web of Science)
• 2021

  [Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases].

  Mayr, J. A. (First author), Feichtinger, R. (Co-author), Achleitner, M., Brugger, K., Kutsam, K., Spenger, J. (Co-author), Koch, J. (Co-author), Hofbauer, P., Lagler, F. (Co-author), Sperl, W. (Co-author), Weghuber, D. (Co-author) & Wortmann, S. (Last author), 2021, In: Monatsschrift Kinderheilkunde. 169, 9, p. 828-836

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

• A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.

  Gonzalez Melo, M., Fontana, A. O., Viertl, D., Allenbach, G., Prior, J. O., Rotman, S., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Costanzo, M., Caterino, M., Ruoppolo, M., Braissant, O., Barbey, F. & Ballhausen, D., 2021, In: MOLECULAR GENETICS AND METABOLISM . 134, 4, p. 287-300

  Research output: Contribution to journal › Original Article › peer-review
  23 Citations (Web of Science)

• A new ketogenic formulation improves functional outcome and reduces tissue loss following traumatic brain injury in adult mice

  Thau-Zuchman, O., Svendsen, L., Dyall, S. C., Paredes-Esquivel, U., Rhodes, M., Priestley, J. V., Feichtinger, R. (Co-author), Kofler, B. (Co-author), Lotstra, S., Verkuyl, J. M., Hageman, R. J., Broersen, L. M., van Wijk, N., Silva, J. P., Tremoleda, J. L. & Michael-Titus, A. T., 2021, In: Theranostics. 11, 1, p. 346-360

  Research output: Contribution to journal › Original Article › peer-review
  28 Citations (Web of Science)

• A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.

  Feichtinger, R. (First author), Hüllen, A., Koller, A. (Co-author), Kotzot, D. (Co-author), Grote, V., Rapp, E., Hofbauer, P., Brugger, K., Thiel, C., Mayr, J. A. (Co-author) & Wortmann, S. (Last author), 2021, In: EMBO MOLECULAR MEDICINE. 13, 9, p. e14332

  Research output: Contribution to journal › Original Article › peer-review
  16 Citations (Web of Science)

• Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.

  Vidali, S. (First author), Gerlini, R., Thompson, K., Urquhart, J. E., Meisterknecht, J., Aguilar-Pimentel, J. A., Amarie, O. V., Becker, L., Breen, C., Calzada-Wack, J., Chhabra, N. F., Cho, Y.-L., da Silva-Buttkus, P., Feichtinger, R. (Co-author), Gampe, K., Garrett, L., Hoefig, K. P., Hölter, S. M., Jameson, E. & Klein-Rodewald, T. & 24 others, Leuchtenberger, S., Marschall, S., Mayer-Kuckuk, P., Miller, G., Oestereicher, M. A., Pfannes, K., Rathkolb, B., Rozman, J., Sanders, C., Spielmann, N., Stoeger, C., Szibor, M., Treise, I., Walter, J. H., Wurst, W., Mayr, J. A. (Co-author), Fuchs, H., Gärtner, U., Wittig, I., Taylor, R. W., Newman, W. G., Prokisch, H., Gailus-Durner, V. & Hrabě de Angelis, M., 2021, In: EMBO MOLECULAR MEDICINE. 13, 12, p. e14397

  Research output: Contribution to journal › Original Article › peer-review
  8 Citations (Web of Science)

• Congenital disorders of glycosylation with defective fucosylation.

  Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J. (Co-author), Feichtinger, R. (Co-author), Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K. M., Santer, R., Herget, T., Rennings, A., Lefeber, D. J., Mayr, J. A. (Co-author), Thiel, C. & Wortmann, S. (Last author), 2021, In: JOURNAL OF INHERITED METABOLIC DISEASE . 44, 6, p. 1441-1452

  Research output: Contribution to journal › Original Article › peer-review
  16 Citations (Web of Science)

• De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

  Dias, C., Pfundt, R., Kleefstra, T., Shuurs-Hoeijmakers, J., Boon, E. M. J., van Hagen, J. M., Zwijnenburg, P., Weiss, M. M., Keren, B., Mignot, C., Isapof, A., Weiss, K., Hershkovitz, T., Iascone, M., Maitz, S., Feichtinger, R. (Co-author), Kotzot, D. (Co-author), Mayr, J. A. (Co-author), Ben-Omran, T. & Mahmoud, L. & 9 others, Pais, L. S., Walsh, C. A., Shashi, V., Sullivan, J. A., Stong, N., Lecoquierre, F., Guerrot, A.-M., Charollais, A. & Rodan, L. H., 2021, In: AM J MED GENET PART A. 185, 8, p. 2384-2390

  Research output: Contribution to journal › Original Article › peer-review
  13 Citations (Web of Science)

• Multidisciplinary diagnostics of developmental disorders: basis for personalized precision medicine The "groundhog" consultation

  Wortmann, S. (First author), Preisel, M., Feichtinger, R. (Co-author), Floride, E. (Co-author), Koch, J. (Co-author), Kleber, N., Kranewitter, K., Rauscher, C. (Co-author), Spenger, J. (Co-author), Steinbrucker, K., Sperl, W. (Co-author), Weghuber, D. (Co-author) & Mayr, J. A. (Last author), 2021, In: Monatsschrift Kinderheilkunde.

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

• Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

  Schänzer, A., Achleitner, M. (First author), Trümbach, D., Hubert, L., Munnich, A., Ahlemeyer, B., AlAbdulrahim, M. M., Greif, P. A., Vosberg, S., Hummer, B., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Wortmann, S. (Co-author), Aichner, H., Rudnik-Schöneborn, S., Ruiz, A., Gabau, E., Sánchez, J. P., Ellard, S. & Homfray, T. & 11 others, Stals, K. L., Wurst, W., Neubauer, B. A., Acker, T., Bohlander, S. K., Asensio, C., Besmond, C., Alkuraya, F. S., AlSayed, M. D., Hahn, A. & Weber, A., 2021, In: ANNALS OF NEUROLOGY . 90, 1, p. 143-158

  Research output: Contribution to journal › Original Article › peer-review
  3 Citations (Web of Science)

• Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

  Wortmann, S. (First author), Ziętkiewicz, S., Guerrero-Castillo, S., Feichtinger, R. (Co-author), Wagner, M., Russell, J., Ellaway, C., Mróz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stülpnagel, C. (Co-author), Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K. C., Lorsbach, R., Dale, R. C. & Gersting, S. & 6 others, Prada, C. E., Christodoulou, J., Wolf, N. I., Venselaar, H., Mayr, J. A. (Co-author) & Wevers, R. A., 2021, In: GENETICS IN MEDICINE . 23, 9, p. 1705-1714

  Research output: Contribution to journal › Original Article › peer-review
  24 Citations (Web of Science)

• Targeted Metabolomics Identifies Plasma Biomarkers in Mice with Metabolically Heterogeneous Melanoma Xenografts.

  Weber, D. (First author), Thapa, M., Aminzadeh-Gohari, S. (Co-author), Redtenbacher, A.-S., Catalano, L. (Co-author), Feichtinger, R. (Co-author), Koelblinger, P. (Co-author), Dallmann, G., Emberger, M., Kofler, B. (Co-author) & Lang, R. (Last author), 2021, In: Cancers. 13, 3

  Research output: Contribution to journal › Original Article › peer-review
  11 Citations (Web of Science)

• The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

  Gonzalez Melo, M., Remacle, N., Cudré-Cung, H.-P., Roux, C., Poms, M., Cudalbu, C., Barroso, M., Gersting, S. W., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Costanzo, M., Caterino, M., Ruoppolo, M., Rüfenacht, V., Häberle, J., Braissant, O. & Ballhausen, D., 2021, In: MOLECULAR GENETICS AND METABOLISM . 133, 2, p. 157-181

  Research output: Contribution to journal › Original Article › peer-review
  23 Citations (Web of Science)
• 2020

  Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

  Husain, R. A., Grimmel, M., Wagner, M., Hennings, J. C., Marx, C., Feichtinger, R. (Co-author), Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M. C., Besse, A. & Ng, A.C.-H. & 26 others, Chiang, D., Bolduc, F., Tafakhori, A., Mane, S., Ghasemi Firouzabadi, S., Huebner, A. K., Buchert, R., Beck-Woedl, S., Müller, A. J., Laugwitz, L., Nägele, T., Wang, Z.-Q., Strom, T. M., Sturm, M., Meitinger, T., Klockgether, T., Riess, O., Klopstock, T., Brandl, U., Hübner, C. A., Deschauer, M., Mayr, J. A. (Co-author), Bonnen, P. E., Krägeloh-Mann, I., Wortmann, S. (Co-author) & Haack, T. B., 2020, In: AMERICAN JOURNAL OF HUMAN GENETICS . 107, 2, p. 364-373

  Research output: Contribution to journal › Original Article › peer-review
  32 Citations (Web of Science)

• Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

  Gusic, M., Schottmann, G., Feichtinger, R. (Co-author), Du, C., Scholz, C., Wagner, M., Mayr, J. A. (Co-author), Lee, C.-Y., Yépez, V. A., Lorenz, N., Morales-Gonzalez, S., Panneman, D. M., Rötig, A., Rodenburg, R. J. T., Wortmann, S. (Co-author), Prokisch, H. & Schuelke, M., 2020, In: AMERICAN JOURNAL OF HUMAN GENETICS . 106, 1, p. 102-111

  Research output: Contribution to journal › Original Article › peer-review
  34 Citations (Web of Science)

• Changes in the expression of oxidative phosphorylation complexes in the aging intestinal mucosa.

  Özsoy, M., Zimmermann, F. (Co-author), Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Kofler, B. (Co-author), Neureiter, D. (Co-author), Klieser, E. (Co-author), Schütz, S., Weghuber, D. (Co-author) & Schneider, A. M. (Last author), 2020, In: EXPERIMENTAL GERONTOLOGY . 135, p. 110924

  Research output: Contribution to journal › Original Article › peer-review
  11 Citations (Web of Science)

• Metabolic reprogramming related to whole-chromosome instability in models for Hürthle cell carcinoma.

  Addie, R. D., Kostidis, S., Corver, W. E., Oosting, J., Aminzadeh-Gohari, S. (Co-author), Feichtinger, R. (Co-author), Kofler, B. (Co-author), Aydemirli, M. D., Giera, M. & Morreau, H., 2020, In: Scientific reports. 10, 1, p. 9578

  Research output: Contribution to journal › Original Article › peer-review
  13 Citations (Web of Science)

• Targeting Mitochondria in Melanoma.

  Aminzadeh-Gohari, S. (First author), Weber, D. (Co-author), Catalano, L. (Co-author), Feichtinger, R. (Co-author), Kofler, B. (Co-author) & Lang, R. (Last author), 2020, In: Biomolecules. 10, 10

  Research output: Contribution to journal › Original Article › peer-review
  31 Citations (Web of Science)

• The switch in the diagnosis of mitochondrial diseases from the classical function first to the NGS-based genetics first diagnostic era.

  Sperl, W. (First author), Wortmann, S. (Co-author), Feichtinger, R. (Co-author) & Mayr, J. A. (Last author), 2020, In: JOURNAL OF MOTHER AND CHILD. 24, 2, p. 47-52

  Research output: Contribution to journal › Original Article › peer-review
• 2019

  Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

  Feichtinger, R. (First author), Mucha, B. E., Hengel, H., Orfi, Z., Makowski, C., Dort, J., D"Anjou, G., Nguyen, T. T. M., Buchert, R., Juenger, H., Freisinger, P., Baumeister, S., Schoser, B., Ahting, U., Keimer, R., Nguyen, C.-T. E., Fabre, P., Gauthier, J., Miguet, M. & Lopes, F. & 16 others, AlHakeem, A., AlHashem, A., Tabarki, B., Kandaswamy, K. K., Bauer, P., Steinbacher, P., Prokisch, H., Sturm, M., Strom, T. M., Ellezam, B., Mayr, J. A. (Co-author), Schöls, L., Michaud, J. L., Campeau, P. M., Haack, T. B. & Dumont, N. A., 2019, In: GENETICS IN MEDICINE . 21, 11, p. 2521-2531

  Research output: Contribution to journal › Original Article › peer-review
  28 Citations (Web of Science)

• Inducing cancer indolence by targeting mitochondrial Complex I is potentiated by blocking macrophage-mediated adaptive responses.

  Kurelac, I., Iommarini, L., Vatrinet, R., Amato, L. B., De Luise, M., Leone, G., Girolimetti, G., Umesh Ganesh, N., Bridgeman, V. L., Ombrato, L., Columbaro, M., Ragazzi, M., Gibellini, L., Sollazzo, M., Feichtinger, R. (Co-author), Vidali, S. (Co-author), Baldassarre, M., Foriel, S., Vidone, M. & Cossarizza, A. & 5 others, Grifoni, D., Kofler, B. (Co-author), Malanchi, I., Porcelli, A. M. & Gasparre, G., 2019, In: Nature Communications. 10, 1, p. 903

  Research output: Contribution to journal › Original Article › peer-review
  50 Citations (Web of Science)

• Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma.

  Feichtinger, R. (First author), Neureiter, D. (First author), Kemmerling, R., Mayr, J. A. (Co-author), Kiesslich, T. (Co-author) & Kofler, B. (Last author), 2019, In: CELLS. 8, 6

  Research output: Contribution to journal › Original Article › peer-review
  7 Citations (Web of Science)

• Untargeted Metabolomics Reveals Molecular Effects of Ketogenic Diet on Healthy and Tumor Xenograft Mouse Models.

  Licha, D., Vidali, S. (Co-author), Aminzadeh-Gohari, S. (Co-author), Alka, O., Breitkreuz, L., Kohlbacher, O., Reischl, R. J., Feichtinger, R. (Co-author), Kofler, B. (Co-author) & Huber, C. G., 2019, In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 20, 16

  Research output: Contribution to journal › Original Article › peer-review
  24 Citations (Web of Science)
• 2018

  Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

  Danhauser, K., Alhaddad, B., Makowski, C., Piekutowska-Abramczuk, D., Syrbe, S., Gomez-Ospina, N., Manning, M. A., Kostera-Pruszczyk, A., Krahn-Peper, C., Berutti, R., Kovács-Nagy, R., Gusic, M., Graf, E., Laugwitz, L., Röblitz, M., Wroblewski, A., Hartmann, H., Das, A. M., Bültmann, E. & Fang, F. & 16 others, Xu, M., Schatz, U. A., Karall, D., Zellner, H., Haberlandt, E., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Meitinger, T., Prokisch, H., Strom, T. M., Płoski, R., Hoffmann, G. F., Pronicki, M., Bonnen, P. E., Morlot, S. & Haack, T. B., 2018, In: AMERICAN JOURNAL OF HUMAN GENETICS . 103, 5, p. 817-825

  Research output: Contribution to journal › Original Article › peer-review
  47 Citations (Web of Science)

• Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

  Oláhová, M., Yoon, W. H., Thompson, K., Jangam, S., Fernandez, L., Davidson, J. M., Kyle, J. E., Grove, M. E., Fisk, D. G., Kohler, J. N., Holmes, M., Dries, A. M., Huang, Y., Zhao, C., Contrepois, K., Zappala, Z., Frésard, L., Waggott, D., Zink, E. M. & Kim, Y.-M. & 30 others, Heyman, H. M., Stratton, K. G., Webb-Robertson, B.-J. M., Snyder, M., Merker, J. D., Montgomery, S. B., Fisher, P. G., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Hall, J., Barbosa, I. A., Simpson, M. A., Deshpande, C., Waters, K. M., Koeller, D. M., Metz, T. O., Morris, A. A., Schelley, S., Cowan, T., Friederich, M. W., McFarland, R., Van Hove, J. L. K., Enns, G. M., Yamamoto, S., Ashley, E. A., Wangler, M. F., Taylor, R. W., Bellen, H. J., Bernstein, J. A. & Wheeler, M. T., 2018, In: AMERICAN JOURNAL OF HUMAN GENETICS . 102, 3, p. 494-504

  Research output: Contribution to journal › Original Article › peer-review
  64 Citations (Web of Science)

• Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

  Alston, C. L., Heidler, J., Dibley, M. G., Kremer, L. S., Taylor, L. S., Fratter, C., French, C. E., Glasgow, R. I. C., Feichtinger, R. (Co-author), Delon, I., Pagnamenta, A. T., Dolling, H., Lemonde, H., Aiton, N., Bjørnstad, A., Henneke, L., Gärtner, J., Thiele, H., Tauchmannova, K. & Quaghebeur, G. & 11 others, Houstek, J., Sperl, W. (Co-author), Raymond, F. L., Prokisch, H., Mayr, J. A. (Co-author), McFarland, R., Poulton, J., Ryan, M. T., Wittig, I., Henneke, M. & Taylor, R. W., 2018, In: AMERICAN JOURNAL OF HUMAN GENETICS . 103, 4, p. 592-601

  Research output: Contribution to journal › Original Article › peer-review
  43 Citations (Web of Science)

• NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

  Piekutowska-Abramczuk, D., Assouline, Z., Mataković, L., Feichtinger, R. (Co-author), Koňařiková, E., Jurkiewicz, E., Stawiński, P., Gusic, M., Koller, A. (Co-author), Pollak, A., Gasperowicz, P., Trubicka, J., Ciara, E., Iwanicka-Pronicka, K., Rokicki, D., Hanein, S., Wortmann, S. (Co-author), Sperl, W. (Co-author), Rötig, A. & Prokisch, H. & 4 others, Pronicka, E., Płoski, R., Barcia, G. & Mayr, J. A. (Last author), 2018, In: AMERICAN JOURNAL OF HUMAN GENETICS . 102, 3, p. 460-467

  Research output: Contribution to journal › Original Article › peer-review
  43 Citations (Web of Science)

• PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

  Alhaddad, B., Schossig, A., Haack, T. B., Kovács-Nagy, R., Braunisch, M. C., Makowski, C., Senderek, J., Vill, K., Müller-Felber, W., Strom, T. M., Krabichler, B., Freisinger, P., Deshpande, C., Polster, T., Wolf, N. I., Desguerre, I., Wörmann, F., Rötig, A., Ahting, U. & Kopajtich, R. & 9 others, Prokisch, H., Meitinger, T., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Jungbluth, H., Hubmann, M., Zschocke, J., Distelmaier, F. & Koch, J. (Last author), 2018, In: NEUROPEDIATRICS . 49, 5, p. 330-338

  Research output: Contribution to journal › Original Article › peer-review
  11 Citations (Web of Science)

• Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer.

  Feichtinger, R. (First author), Schäfer, G., Seifarth, C., Mayr, J. A. (Co-author), Kofler, B. (Co-author) & Klocker, H., 2018, In: Oxidative Medicine and Cellular Longevity . 2018, p. 1347174

  Research output: Contribution to journal › Original Article › peer-review
  17 Citations (Web of Science)