Associated Papers
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1.
Duan Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
38412125 (PubMed )
Supplement: pnas.2308255121.sd05.xlsx › cel.nervous.phenotypes
Modeling neurodevelopmental disorder-associated hAGO1 mutations in C. elegans Argonaute ALG-1.
Duan Y et al.
Biorxiv : the Preprint Server for Biology, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
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 genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
Niu Y et al.
Clinical Genetics, 2022
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