Associated Papers
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Skopkova M et al.
Orphanet Journal of Rare Diseases, 2023
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T et al.
Clinical Genetics, 2023
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A et al.
The Journal of Experimental Medicine, 2021
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.
Hanes I et al.
Neurology. Genetics, 2020
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