Associated Papers
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S et al.
European Journal of Human Genetics : Ejhg, 2024
The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures.
Tang X et al.
Bmc Medical Genomics, 2023
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH et al.
European Journal of Human Genetics : Ejhg, 2023
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.
Shimojima Yamamoto K et al.
Human Genome Variation, 2021
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
Srivastava S et al.
Brain Sciences, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A et al.
Genes, 2021
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Ito Y et al.
American Journal of Human Genetics, 2018
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