Associated Papers
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2023
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A et al.
Journal of Medical Genetics, 2022
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
Niu Y et al.
Clinical Genetics, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
Sakaguchi A et al.
European Journal of Medical Genetics, 2019
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
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