Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Simons Searchlight
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: An expanded series with functional characterisation and genotype-phenotype analysis.
Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms.
16p11.2 deletion syndrome.
Subcortical brain alterations in carriers of genomic copy number variants.
Paving the way toward treatment solutions for CTNNB1 syndrome: A patient organization perspective.
Comparison of autism domains across thirty rare variant genotypes.
Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.
Multi-site normative modeling of diffusion tensor imaging metrics using hierarchical Bayesian regression.
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
- Previous Page
- Viewing
- Next Page