Associated Papers
Paracentric inversion disrupting the SHANK2 gene.
Huyghebaert J et al.
European Journal of Medical Genetics, 2025
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
37475652 (PubMed )
Supplement: MGG3-11-e2248-s002.xlsx › SHANK2
Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing.
Wu Y et al.
Frontiers in Neuroscience, 2023
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
Doddato G et al.
Genes, 2022
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
Caumes R et al.
European Journal of Medical Genetics, 2020
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
30072871 (PubMed )
Supplement: Table_1.pdf
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
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