| Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy R Kopajtich, K Murayama, AR Janecke, TB Haack, M Breuer, AS Knisely, ... The American Journal of Human Genetics 99 (2), 414-422, 2016 | 84 | 2016 |
| Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG B Dimitrov, N Himmelreich, ALH Ederveen, C Lüchtenborg, JG Okun, ... Molecular genetics and metabolism 123 (3), 364-374, 2018 | 29 | 2018 |
| Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase M Zielonka, M Breuer, JG Okun, M Carl, GF Hoffmann, S Kölker PLoS One 13 (9), e0203707, 2018 | 27 | 2018 |
| Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine … N Himmelreich, B Dimitrov, V Geiger, M Zielonka, AM Hutter, L Beedgen, ... Human mutation 40 (7), 938-951, 2019 | 18 | 2019 |
| Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression P Jamadagni, M Breuer, K Schmeisser, T Cardinal, B Kassa, JA Parker, ... EMBO reports 22 (6), e50958, 2021 | 16 | 2021 |
| QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis M Breuer, L Guglielmi, M Zielonka, V Hemberger, S Kölker, JG Okun, ... Plos one 14 (4), e0215162, 2019 | 16 | 2019 |
| A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish M Breuer, SA Patten Biomolecules 10 (9), 1352, 2020 | 10 | 2020 |
| pyHeart4Fish: Chamber-specific heart phenotype quantification of zebrafish in high-content screens VL Vedder, T Reinberger, SMI Haider, L Eichelmann, N Odenthal, ... Frontiers in Cell and Developmental Biology 11, 1143852, 2023 | 2 | 2023 |
| Abnormal craniofacial and spinal bone development with col2a1a depletion in a zebrafish model of CHARGE syndrome M Breuer, M Rummler, C Zaouter, BM Willie, SA Patten BioRxiv, 2020.07. 10.197533, 2020 | 2 | 2020 |
| CHD7 regulates craniofacial cartilage development via controlling HTR2B expression M Breuer, M Rummler, J Singh, S Maher, C Zaouter, P Jamadagni, ... Journal of Bone and Mineral Research, zjae024, 2024 | | 2024 |
| Pharmacologic Rescue of Hyperammonemia-induced Neurotoxicity by Inhibition of Ornithine Aminotransferase in a Zebrafish Model of Acute Hyperammonemic Encephalopathy M Zielonka, M Breuer, J Probst, M Carl, GF Hoffmann, JG Okun, S Kölker Neuropediatrics 50 (S 02), GNP-PO39, 2019 | | 2019 |
Matthias CarlPI at Trento UniversityVerified email at unitn.it
