| 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 | 150 | 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 | 106 | 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 | 100 | 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 | 46 | 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 | 34 | 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 | 23 | 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 | 10 | 2022 |
| ATG7 safeguards human neural integrity JJ Collier, M Olahova, TG McWilliams, RW Taylor Autophagy 17 (9), 2651-2653, 2021 | 10 | 2021 |
| Machine learning algorithms reveal the secrets of mitochondrial dynamics JJ Collier, RW Taylor EMBO Molecular Medicine 13 (6), e14316, 2021 | 6 | 2021 |
| Emerging roles of ATG7 in human health and disease. EMBO Mol Med 13: e14824 JJ Collier, F Suomi, M Olahova, TG McWilliams, RW Taylor | 6 | 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 | 4 | 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 | 3 | 2023 |
| Biallelic ATG7 variants impair autophagy leading to neurological disease JJ Collier, C Guissart, M Olahova, S Sasorith, F Suomi, F Piron-Prunier, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 4-5, 2022 | | 2022 |
| Developmental consequences of defective ATG7-mediated autophagy in humans JJ Collier, C Guissart, M Olahova, S Sasorith, F Suomi, F Piron-Prunier, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 996-997, 2020 | | 2020 |
| Mutations in POLRMT impair mitochondrial transcription and are associated with a spectrum of mitochondrial disease presentations M Olahova, B Peter, H Diaz, Z Szilagyi, EW Sommerville, EL Blakely, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1160-1160, 2019 | | 2019 |
| CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect M Oláhová, J Collier, J Heidler, K Thompson, RN Lightowlers, ... Neuromuscular Disorders 28, S32-S33, 2018 | | 2018 |
