Associated Papers
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
Taok1 haploinsufficiency leads to autistic-like behaviors in mice via the dorsal raphe nucleus.
Wang J et al.
Cell Reports, 2023
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
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
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