Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
Pathogenic missense variants of CSNK2B associated with Poirier-Bienvenu neurodevelopmental disorder impact differently on CK2 holoenzyme formation.
Kavaliova H et al.
Biological Chemistry, 2025
Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D et al.
Molecular Genetics & Genomic Medicine, 2024
38037515 (PubMed )
Supplement: MGG3-12-e2327-s001.xlsx › Sheet1
Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.
Chen X et al.
Frontiers in Pediatrics, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
De Novo CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome.
Yang Q et al.
Frontiers in Neurology, 2022
Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.
Zhang W et al.
Frontiers in Neuroscience, 2022
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Unni P et al.
Frontiers in Molecular Biosciences, 2022
Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.
Bonanni P et al.
Seizure, 2021
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S et al.
Neurogenetics, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME et al.
Epilepsia, 2021
Germline de novo variants in CSNK2B in Chinese patients with epilepsy.
Li J et al.
Scientific Reports, 2019
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