Associated Papers
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R et al.
American Journal of Human Genetics, 2024
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.
Lu X et al.
European Journal of Human Genetics : Ejhg, 2024
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
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