Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
Generation of prostate cancer assembloids modeling the patient-specific tumor microenvironment.
Lee J et al.
Plos Genetics, 2025
40163511 (PubMed )
Supplement: pgen.1011652.s005.xlsx › tumor_tissue_somatic_variants
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Coste T et al.
Prenatal Diagnosis, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
Coste T et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A et al.
Molecular Genetics and Metabolism, 2011
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
Brivet M et al.
Molecular Genetics and Metabolism, 2003
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