Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Identifying Genetic Susceptibility in Neonates With Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series.
Woodward KE et al.
Journal of Child Neurology, 2023
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.
Bennett J et al.
Molecular Genetics and Metabolism Reports, 2020
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
Bai R et al.
Clinical Genetics, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H et al.
Annals of Clinical and Translational Neurology, 2019
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
La Piana R et al.
Neurogenetics, 2017
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Hinttala R et al.
Human Molecular Genetics, 2015
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB et al.
Molecular Genetics and Metabolism, 2014
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Neeve VC et al.
Mitochondrion, 2013
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB et al.
Journal of Medical Genetics, 2012
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0