Associated Papers
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.
Cells, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Zaganas I et al.
Epilepsy & Behavior Reports, 2021
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Lake NJ et al.
Human Mutation, 2019
Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.
Fazeli W et al.
Molecular and Cellular Pediatrics, 2016
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ et al.
Annals of Neurology, 2016
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Sofou K et al.
Mitochondrion, 2013
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
Tajir M et al.
European Journal of Medical Genetics, 2012
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Ivanov IS et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details