Associated Papers
Clinical and variant spectrum of patients harboring ATAD3A variants.
Mei H et al.
Translational Pediatrics, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.
Kiesel AS et al.
Brain : a Journal of Neurology, 2025
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.
Merc MD et al.
Prenatal Diagnosis, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
38256266 (PubMed )
Supplement: ijms-25-01192-s001.zip › ijms-2816629-supplementary.xlsx › Table_S2
Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models.
Brügel M et al.
Frontiers in Neuroscience, 2024
ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.
Chen L et al.
International Journal of Molecular Sciences, 2023
Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.
Chen Y et al.
Pediatric Neurology, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Skopkova M et al.
Orphanet Journal of Rare Diseases, 2023
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap ZY et al.
Genome Medicine, 2021
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
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