Associated Papers
Neurodevelopmental impact of CNV models in ASD: Recent advances and future directions.
Tamada K et al.
Current Opinion in Neurobiology, 2025
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Unda BK et al.
Molecular Psychiatry, 2023
The OTUD7A-Ankyrin pathway: a newly identified disease mechanism for the 15q13.3 microdeletion disorder.
Scheefhals N et al.
Molecular Psychiatry, 2023
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P et al.
Clinical Genetics, 2020
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