Associated Papers
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST4
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C et al.
Bmc Genomics, 2023
37501076 (PubMed )
Supplement: 12864_2023_9505_MOESM1_ESM.xlsx › Summary
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.
Abe-Hatano C et al.
Molecular Syndromology, 2023
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.
Patel PA et al.
Journal of Medical Genetics, 2022
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Dubbs H et al.
American Journal of Medical Genetics. Part A, 2022
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Zhang Y et al.
Italian Journal of Pediatrics, 2022
The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model.
Mukherjee K et al.
Cells, 2022
Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia.
Xie G et al.
Frontiers in Genetics, 2022
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Mukherjee K et al.
Molecular Genetics & Genomic Medicine, 2020
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S et al.
Plos One, 2017
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U et al.
Orphanet Journal of Rare Diseases, 2015
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L et al.
Orphanet Journal of Rare Diseases, 2012
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S et al.
Human Genetics, 2012
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