Associated Papers
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
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
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
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
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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