| Strong purifying selection in transmission of mammalian mitochondrial DNA JB Stewart, C Freyer, JL Elson, A Wredenberg, Z Cansu, A Trifunovic, ... PLoS biology 6 (1), e10, 2008 | 526 | 2008 |
| Germline mitochondrial DNA mutations aggravate ageing and can impair brain development JM Ross, JB Stewart, E Hagström, S Brené, A Mourier, G Coppotelli, ... Nature 501 (7467), 412-415, 2013 | 293 | 2013 |
| Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins A Ameur, JB Stewart, C Freyer, E Hagström, M Ingman, NG Larsson, ... PLoS genetics 7 (3), e1002028, 2011 | 262 | 2011 |
| Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease JB Stewart, C Freyer, JL Elson, NG Larsson Nature Reviews Genetics 9 (9), 657-662, 2008 | 210 | 2008 |
| Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance A Wredenberg, C Freyer, ME Sandström, A Katz, R Wibom, H Westerblad, ... Biochemical and biophysical research communications 350 (1), 202-207, 2006 | 170 | 2006 |
| TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication D Milenkovic, S Matic, I Kühl, B Ruzzenente, C Freyer, E Jemt, CB Park, ... Human molecular genetics 22 (10), 1983-1993, 2013 | 168 | 2013 |
| Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients H Stranneheim, K Lagerstedt-Robinson, M Magnusson, M Kvarnung, ... Genome Medicine 13, 1-15, 2021 | 151 | 2021 |
| Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission C Freyer, LM Cree, A Mourier, JB Stewart, C Koolmeister, D Milenkovic, ... Nature genetics 44 (11), 1282-1285, 2012 | 140 | 2012 |
| Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway R Acuna-Hidalgo, D Schanze, A Kariminejad, A Nordgren, ... The American Journal of Human Genetics 95 (3), 285-293, 2014 | 136 | 2014 |
| No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline E Hagström, C Freyer, BJ Battersby, JB Stewart, NG Larsson Nucleic acids research 42 (2), 1111-1116, 2013 | 124 | 2013 |
| MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals A Wredenberg, M Lagouge, A Bratic, MD Metodiev, H Spåhr, A Mourier, ... PLoS genetics 9 (1), e1003178, 2013 | 124 | 2013 |
| A phenotype-driven approach to generate mouse models with pathogenic mtDNA mutations causing mitochondrial disease JHK Kauppila, HL Baines, A Bratic, ML Simard, C Freyer, A Mourier, ... Cell reports 16 (11), 2980-2990, 2016 | 115 | 2016 |
| Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element E Jemt, Ö Persson, Y Shi, M Mehmedovic, JP Uhler, M Dávila López, ... Nucleic acids research 43 (19), 9262-9275, 2015 | 115 | 2015 |
| Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse R Filograna, C Koolmeister, M Upadhyay, A Pajak, P Clemente, R Wibom, ... Science Advances 5 (4), eaav9824, 2019 | 113 | 2019 |
| Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy TB Haack, E Ignatius, J Calvo-Garrido, A Iuso, P Isohanni, C Maffezzini, ... The American Journal of Human Genetics 99 (3), 735-743, 2016 | 110 | 2016 |
| Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2, 4–dihydroxybensoic acid C Freyer, H Stranneheim, K Naess, A Mourier, A Felser, C Maffezzini, ... Journal of medical genetics 52 (11), 779-783, 2015 | 110 | 2015 |
| Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism H Stranneheim, M Engvall, K Naess, N Lesko, P Larsson, M Dahlberg, ... BMC genomics 15, 1-10, 2014 | 77 | 2014 |
| MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome K Naess, C Freyer, H Bruhn, R Wibom, G Malm, I Nennesmo, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1787 (5), 484-490, 2009 | 71 | 2009 |
| Intra-mitochondrial methylation deficiency due to mutations in SLC25A26 Y Kishita, A Pajak, NA Bolar, CMT Marobbio, C Maffezzini, DV Miniero, ... The American Journal of Human Genetics 97 (5), 761-768, 2015 | 68 | 2015 |
| Metabolic regulation of neurodifferentiation in the adult brain C Maffezzini, J Calvo-Garrido, A Wredenberg, C Freyer Cellular and Molecular Life Sciences 77, 2483-2496, 2020 | 61 | 2020 |
