| De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ... Nature, 1-3, 2024 | | 2024 |
| Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease JJ Crameri, CS Palmer, T Stait, TD Jackson, M Lynch, A Sinclair, ... Molecular and Cellular Biology, 1-19, 2024 | | 2024 |
| Further delineation of short chain enoyl CoA hydratase deficiency in the Pacific population I Bernhardt, LE Frajman, B Ryder, E Andersen, C Wilson, C McKeown, ... Molecular Genetics and Metabolism, 108508, 2024 | 1 | 2024 |
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders Y Chen, R Dawes, HC Kim, SL Stenton, S Walker, A Ljungdahl, J Lord, ... medRxiv, 2024 | 1 | 2024 |
| Mitochondrial disease in New Zealand: a nationwide prevalence study S Missen, C Wilson, H Potter, AL Vincent, R Murphy, R Roxburgh, ... Internal Medicine Journal 54 (3), 388-397, 2024 | 1 | 2024 |
| CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex MJ Baker, KU Blau, AJ Anderson, CS Palmer, LF Fielden, JJ Crameri, ... Journal of Cell Biology 223 (3), e202305087, 2024 | 1 | 2024 |
| Challenges, insights and outcomes of a clinically integrated multi-omic rare disease program, RDNow, for individuals who remain undiagnosed after clinical genomic sequencing TY Tan, M De Silva, K Bell, L Gallacher, R Rius, K Allan, NJ Brown, N Tan, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 10-10, 2024 | | 2024 |
| Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum EM McCormick, K Keller, JP Taylor, AJ Coffey, L Shen, D Krotoski, ... Annals of Neurology 94 (4), 696-712, 2023 | 15 | 2023 |
| 258th ENMC international workshop Leigh syndrome spectrum: Genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands D Diodato, M Schiff, BH Cohen, E Bertini, S Rahman, A Ardissone, ... Neuromuscular Disorders 33 (8), 700-709, 2023 | 1 | 2023 |
| Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease SSC Amarasekera, DH Hock, NJ Lake, SE Calvo, SW Grønborg, ... Human molecular genetics 32 (15), 2441-2454, 2023 | 10 | 2023 |
| Integrated multi-omics for rapid rare disease diagnosis on a national scale S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, ... Nature medicine 29 (7), 1681-1691, 2023 | 30 | 2023 |
| Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency S Bakhshalizadeh, DH Hock, NA Siddall, BL Kline, R Sreenivasan, ... Human Genetics 142 (7), 879-907, 2023 | 6 | 2023 |
| A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes S Kiss, J Christodoulou, DR Thorburn, JL Freeman, AJ Kornberg, ... American Journal of Medical Genetics Part A 191 (6), 1599-1606, 2023 | 2 | 2023 |
| Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants GF Vogel, Y Mozer-Glassberg, YE Landau, LD Schlieben, H Prokisch, ... Genetics in medicine 25 (6), 100314, 2023 | 11 | 2023 |
| Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial … J Poquérusse, M Nolan, DR Thorburn, JLK Van Hove, MW Friederich, ... JIMD reports 64 (3), 223-232, 2023 | 1 | 2023 |
| Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease (vol 31, pg 3597, 2022) RG Lee, S Balasubramaniam, M Stentenbach, T Kralj, B Padman, J Smith, ... HUMAN MOLECULAR GENETICS 32 (7), 1236-1236, 2023 | | 2023 |
| Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare Z Stark, T Boughtwood, M Haas, J Braithwaite, CL Gaff, I Goranitis, ... The American Journal of Human Genetics 110 (3), 419-426, 2023 | 16 | 2023 |
| TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease L Van Haute, E O’connor, H Díaz-Maldonado, B Munro, K Polavarapu, ... Nature Communications 14 (1), 1009, 2023 | 10 | 2023 |
| Genetics of mitochondrial diseases: when the nucleus talks to the mitochondrion D Thorburn IMPE Abstracts 96, 2023 | | 2023 |
| The Importance of a Genetic Diagnosis for Adult-Onset Mitochondrial Disorders: Motivations for Genetic and Genomic Testing G Walter, DR Thorburn, D Coman, J Christodoulou, MG De Silva | | 2023 |
John ChristodoulouMurdoch Children's Research Institute在 mcri.edu.au 的电子邮件经过验证
