Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
Saffari A et al.
Autophagy, 2022
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H et al.
European Journal of Medical Genetics, 2019
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Rossi M et al.
Pediatric Neurology, 2017
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