Associated Papers
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
Pasquali D et al.
American Journal of Medical Genetics. Part A, 2023
Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E et al.
Genes, 2020
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C et al.
Journal of Medical Genetics, 2015
Select a paper to view details