Associated Papers
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
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
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H et al.
European Journal of Medical Genetics, 2019
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill GL et al.
Epilepsia, 2018
Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN).
Ingrassia R et al.
Frontiers in Genetics, 2017
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Hayflick SJ et al.
Brain : a Journal of Neurology, 2013
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB et al.
American Journal of Human Genetics, 2012
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