• Publications
  • Influence
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
TLDR
target NGS in 42 unrelated infants with clinical and biochemical evidence of mitochondrial oxidative phosphorylation disease suggests that next-generation sequencing may be able to provide a molecular diagnosis for ~25% of currently unsolved cases of infantile mitochondrial disease.
Trait changes in a harvested population are driven by a dynamic tug-of-war between natural and harvest selection
TLDR
This is the first study to demonstrate that a consideration of both natural selection and artificial selection is needed to fully explain time-varying trait dynamics in harvested populations.
Four decades of opposing natural and human-induced artificial selection acting on Windermere pike (Esox lucius).
TLDR
It is unequivocally demonstrated that natural selection and fishery selection often acted in opposite directions within this natural system.
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease
TLDR
It is shown that the human complex I assembly factor CIA30 (complex I intermediate associated protein) associates with newly translated mtDNA‐encoded complex I subunits at early stages in their assembly before dissociating at a later stage.
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
TLDR
Mitochondrial DNA disease may be considerably more prevalent in the pediatric population than currently predicted and should be considered in patients with infantile mitochondrial encephalopathies and complex I deficiency.
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
TLDR
Screening is effective in patients with MCAD deficiency since early diagnosis reduces deaths and severe adverse events in children up to the age of 4 years.
Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
TLDR
Screening by tandem mass spectrometry provides a better outcome for patients at 6 years of age, with fewer deaths and fewer clinically significant disabilities.
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
TLDR
No clinical, biochemical, or genetic parameters indicating longer survival were found, however defects in some genes seem to be associated with a better or poorer prognosis, cardiomyopathy, Leigh syndrome or brainstem lesions.
Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II
TLDR
The outcome of the analysis underscores the notion that the clinical phenotype of GSDII is largely dictated by the nature of the mutations in the GAA alleles, which makes DNA analysis a valuable tool to help predict the clinical course of the disease.
Screening for lysosomal storage disorders—A clinical perspective
  • J. Fletcher
  • Medicine
    Journal of Inherited Metabolic Disease
  • 1 April 2006
SummaryThe availability of therapies for lysosomal storage diseases (LSDs) and clear documentation from animal studies that optimal therapy depends on early diagnosis have set the scene for newborn
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