PubRank

Joanna Poulton

Author PubWeight™ 28.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 2010 2.81
2 Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. Hum Mol Genet 2004 2.00
3 Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining. Exp Cell Res 2004 1.74
4 Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004 1.34
5 Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA. Nucleic Acids Res 2009 1.19
6 Genetic causes of mitochondrial DNA depletion in humans. Biochim Biophys Acta 2009 1.13
7 Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat 2013 1.12
8 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 2008 1.06
9 Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion 2007 1.05
10 Mitochondrial DNA is a direct target of anti-cancer anthracycline drugs. Biochem Biophys Res Commun 2008 0.99
11 Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis 2014 0.99
12 Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012 0.96
13 Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet 2007 0.96
14 Diagnosis of mitochondrial DNA depletion syndromes. Arch Dis Child 2009 0.94
15 A prevalent POLG CAG microsatellite length allele in humans and African great apes. Mamm Genome 2004 0.89
16 Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases. Eur J Hum Genet 2006 0.84
17 Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years. J Clin Endocrinol Metab 2007 0.83
18 Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene. Arch Neurol 2005 0.83
19 The association of the mitochondrial DNA OriB variant (16184-16193 polycytosine tract) with type 2 diabetes in Europid populations. Diabetologia 2013 0.83
20 Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatr Res 2006 0.81
21 Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants. Brain 2007 0.81
22 Therapeutic treatments of mtDNA diseases at the earliest stages of human development. Mitochondrion 2010 0.80
23 Nuclear transfer to prevent maternal transmission of mitochondrial DNA disease. BMJ 2012 0.80
24 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Epilepsia 2013 0.79
25 The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study. BMC Med Genet 2009 0.77
26 Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation. J Neurol Sci 2004 0.77
27 Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. J Pediatr Gastroenterol Nutr 2016 0.75
28 Correction: Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse? PLoS One 2017 0.75
29 Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure. J Biol Chem 2016 0.75