Associated Papers
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
Kurganov E et al.
Science Translational Medicine, 2025
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S5.xlsx › Driver
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.
Lee S et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP et al.
Journal of Neurology, 2022
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