Associated Papers
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Cavalli A et al.
Bmc Medical Genomics, 2024
38443934 (PubMed )
Supplement: 12920_2024_1840_MOESM1_ESM.xlsx › Foglio1
Pleiotropic functions of TAO kinases and their dysregulation in neurological disorders.
Byeon S et al.
Science Signaling, 2024
Neurodevelopmental disorder-associated mutations in TAOK1 reveal its function as a plasma membrane remodeling kinase.
Beeman N et al.
Science Signaling, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.
Lintas C et al.
Journal of Clinical Medicine, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM et al.
Human Mutation, 2021
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow M et al.
American Journal of Human Genetics, 2019
Select a paper to view details