Associated Papers
Paracentric inversion disrupting the SHANK2 gene.
Huyghebaert J et al.
European Journal of Medical Genetics, 2025
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.
Selvanayagam T et al.
Journal of Medical Genetics, 2025
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.
Silver H et al.
Journal of Neurodevelopmental Disorders, 2025
Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.
Muhtaseb AW et al.
Schizophrenia Research, 2024
Autism patient-derived SHANK2BY29X mutation affects the development of ALDH1A1 negative dopamine neuron.
Lai W et al.
Molecular Psychiatry, 2024
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.
Zhang Q et al.
Molecular Genetics & Genomic Medicine, 2023
The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders - Evidence from human neuronal cell models.
Réthelyi JM et al.
Neuroscience and Biobehavioral Reviews, 2023
Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing.
Wu Y et al.
Frontiers in Neuroscience, 2023
Protein synthesis as a modifiable target for autism-related dendritic spine pathophysiologies.
Lu MH et al.
The Febs Journal, 2022
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.
Vilela J et al.
Frontiers in Molecular Neuroscience, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Gene Therapies for Monogenic Autism Spectrum Disorders.
Weuring W et al.
Genes, 2021
SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.
Unsicker C et al.
Scientific Reports, 2021
SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.
Zaslavsky K et al.
Nature Neuroscience, 2019
Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants.
Eltokhi A et al.
Frontiers in Molecular Neuroscience, 2018
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Leblond CS et al.
Plos Genetics, 2014
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS et al.
Plos Genetics, 2012