Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T et al.
American Journal of Medical Genetics. Part A, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Novel DIP2C gene splicing variant in an individual with focal infantile epilepsy.
Yang L et al.
American Journal of Medical Genetics. Part A, 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Select a paper to view details