Associated Papers
A hyper-activatable CAMK2A variant associated with intellectual disability causes exaggerated long-term potentiation and learning impairments.
Pan M et al.
Translational Psychiatry, 2025
CAMK2; four genes, one syndrome? Delineation of genotype-phenotype correlations.
Cheung JS et al.
Current Opinion in Neurobiology, 2025
The genetic evolution of acral melanoma.
Wang M et al.
Nature Communications, 2024
39034322 (PubMed )
Supplement: 41467_2024_50233_MOESM5_ESM.xlsx › Supplementary_Data_2
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
The genetic evolution of acral melanoma.
Wang M et al.
Biorxiv : the Preprint Server for Biology, 2023
37904969 (PubMed )
Supplement: media-2.xlsx › Sheet1
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.
Lintas C et al.
Genes, 2023
Förster resonance energy transfer-based kinase mutation phenotyping reveals an aberrant facilitation of Ca2+/calmodulin-dependent CaMKIIα activity in de novo mutations related to intellectual disability.
Fujii H et al.
Frontiers in Molecular Neuroscience, 2022
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Loureiro LO et al.
Npj Genomic Medicine, 2021
34737294 (PubMed )
Supplement: 41525_2021_254_MOESM1_ESM.pdf
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S et al.
American Journal of Human Genetics, 2017
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