Associated Papers
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder.
Sudnawa KK et al.
Clinical Genetics, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646824 (PubMed )
Supplement: media-2.xlsx › Table_S3
A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles.
Zhang W et al.
Jci Insight, 2025
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Kárteszi J et al.
American Journal of Medical Genetics. Part A, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S et al.
Annals of Neurology, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K et al.
American Journal of Human Genetics, 2019
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