Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
Simons Searchlight
Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.
Availability of services and caregiver burden: Supporting individuals with neurogenetic conditions during the COVID-19 pandemic.
Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder.
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids.
SCN2A-developmental and epileptic encephalopathies: Challenges to trial-readiness for non-seizure outcomes.
16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development.
Exons as units of phenotypic impact for truncating mutations in autism.
A genetics-first approach to dissecting the heterogeneity of autism: Phenotypic comparison of autism risk copy number variants.
- Previous Page
- Viewing
- Next Page