Recent advances in understanding the molecular genetic basis of mitochondrial disease K Thompson, JJ Collier, RIC Glasgow, FM Robertson, A Pyle, EL Blakely, ... Journal of inherited metabolic disease 43 (1), 36-50, 2020 | 168 | 2020 |
Developmental consequences of defective ATG7-mediated autophagy in humans JJ Collier, C Guissart, M Oláhová, S Sasorith, F Piron-Prunier, F Suomi, ... New England Journal of Medicine 384 (25), 2406-2417, 2021 | 139 | 2021 |
Emerging roles of ATG7 in human health and disease JJ Collier, F Suomi, M Oláhová, TG McWilliams, RW Taylor EMBO molecular medicine 13 (12), e14824, 2021 | 136 | 2021 |
Mitochondrial signalling and homeostasis: from cell biology to neurological disease JJ Collier, M Oláhová, TG McWilliams, RW Taylor Trends in neurosciences 46 (2), 137-152, 2023 | 68 | 2023 |
POLRMT mutations impair mitochondrial transcription causing neurological disease M Oláhová, B Peter, Z Szilagyi, H Diaz-Maldonado, M Singh, ... Nature communications 12 (1), 1135, 2021 | 45 | 2021 |
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease M Oláhová, CC Berti, JJ Collier, CL Alston, E Jameson, SA Jones, ... Human Molecular Genetics 28 (22), 3766-3776, 2019 | 24 | 2019 |
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms KA Nolden, JM Egner, JJ Collier, OM Russell, CL Alston, MC Harwig, ... Life Science Alliance 5 (12), 2022 | 12 | 2022 |
ATG7 safeguards human neural integrity JJ Collier, M Oláhová, TG McWilliams, RW Taylor Autophagy 17 (9), 2651-2653, 2021 | 12 | 2021 |
Parkinson’s genes orchestrate pyroptosis through selective trafficking of mtDNA to leaky lysosomes M Nguyen, JJ Collier, O Ignatenko, G Morin, S Huang, M Desjardins, ... bioRxiv, 2023.09. 11.557213, 2023 | 7 | 2023 |
Machine learning algorithms reveal the secrets of mitochondrial dynamics JJ Collier, RW Taylor EMBO molecular medicine 13 (6), e14316, 2021 | 7 | 2021 |
Detection of pathogenic splicing events from RNA-sequencing data using dasper D Zhang, RH Reynolds, S Garcia-Ruiz, EK Gustavsson, S Sethi, S Aguti, ... BioRxiv, 2021.03. 29.437534, 2021 | 6 | 2021 |
RTN4IP1 is essential for the final stages of mitochondrial complex I assembly and coenzyme Q biosynthesis M Oláhová, RM Guerra, JJ Collier, J Heidler, K Thompson, CR White, ... bioRxiv, 2024.09. 04.610987, 2024 | | 2024 |