Associated Papers
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.
den Hoed J et al.
Hgg Advances, 2026
41139958 (PubMed )
Supplement: mmc3.pdf
Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.
Xu C et al.
Genome Research, 2024
39060028 (PubMed )
Supplement: Supplemental_Table_S8.xlsx › Table_S8
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_1
De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.
Chen S et al.
Molecular Autism, 2020
33032641 (PubMed )
Supplement: 13229_2020_386_MOESM2_ESM.xlsx › Interaction_disruptions_proband
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