Associated Papers
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
32214004 (PubMed )
Supplement: genes-11-00344-s001.7z › Supplementary_Table_S2.xlsx › Spectrum
Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.
Uehara T et al.
American Journal of Medical Genetics. Part A, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D et al.
European Journal of Human Genetics : Ejhg, 2016
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