Associated Papers
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.
Reuter MS et al.
Npj Genomic Medicine, 2025
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P et al.
American Journal of Human Genetics, 2025
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Robinson PS et al.
Nature Genetics, 2021
34594041 (PubMed )
Supplement: 41588_2021_930_MOESM3_ESM.xlsx › Supplementary_Table_3
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Codina-Sola M et al.
Journal of Medical Genetics, 2019
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