Progress in understanding and treating SCN2A-mediated disorders.
Simons Searchlight
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Abnormal speech motor control in individuals with 16p11.2 deletions.
Cellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder.
Incorporating social media into your support tool box: Points to consider from genetics-based communities.
Brain MR imaging findings and associated outcomes in carriers of the reciprocal copy number variation at 16p11.2.
Behavior and sensory interests questionnaire: Validation in a sample of children with autism spectrum disorder and other developmental disability.
Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
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