Associated Papers
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J et al.
Brain : a Journal of Neurology, 2025
ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.
Rafat K et al.
Scientific Reports, 2025
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM et al.
Journal of Medical Genetics, 2022
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
Ramos J et al.
Rna (new York, N.y.), 2020
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.
Thomas E et al.
Journal of Pediatric Genetics, 2019
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