Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Nuclear CaMKII Isoforms as Regulators of Transcription: From Developmental to Pathological Persistence.
Gaytán-Gómez AM et al.
Medical Sciences (basel, Switzerland), 2025
CAMK2; four genes, one syndrome? Delineation of genotype-phenotype correlations.
Cheung JS et al.
Current Opinion in Neurobiology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR et al.
Cell Genomics, 2023
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Neuronal L-Type Calcium Channel Signaling to the Nucleus Requires a Novel CaMKIIα-Shank3 Interaction.
Perfitt TL et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
CAMK2-Dependent Signaling in Neurons Is Essential for Survival.
Kool MJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.
Proietti Onori M et al.
Human Mutation, 2018
Calmodulin shuttling mediates cytonuclear signaling to trigger experience-dependent transcription and memory.
Cohen SM et al.
Nature Communications, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018