SHANK2

Publications

Berkel S et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010;42(6):489–491. PMID: 20473310.

De Sena Cortabitarte A et al. A direct regulatory link between microRNA-137 and SHANK2: Implications for neuropsychiatric disorders. J Neurodev Disord. 2018;10(1):15. PMID: 29665782.

Leblond C S et al. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet. 2012;8(2). PMID: 22346768.

Leblond C S et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments. PLoS Genet. 2014;10(9). PMID: 25188300.

Peykov S et al. Identification and functional characterization of rare SHANK2 variants in schizophrenia. Mol Psychiatry, 2015;20(12) :1489–1498. PMID: 25560758.

Rolland T et al. Towards a gene-level map of resilience to genetic variants associated with autism. medRxiv. 2021. https://doi.org/10.1101/2021.02.12.21251621

Zaslavsky K et al. SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons. Nat Neurosci. 2019;22(4):556–564. PMID: 30911184.