New Simons VIP Phase 2 data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, and mutations in the following single genes: SCN2A, GRIN2B, PACS1, PPP2R5D, ADNP, MED13L, STXBP1, HIVEP2 and SYNGAP1.
Presentations that will be given by SFARI Investigators at the 2017 International Meeting for Autism Research (IMFAR) in San Francisco (May 10-13) are highlighted.
Kevin Bender and Stephan Sanders show that ASD-associated SCN2A variants lead to impaired NaV1.2 channel activity and reduced neuronal excitability.
New Simons VIP Phase 2 data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, and mutations in the following single genes: SCN2A, GRIN2B, ADNP and HIVEP2.
By assessing a Chinese autism cohort, Evan Eicher establishes the importance of de novo mutations for conferring autism risk in both European and Chinese populations.
New Simons VIP data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, GRIN2B mutations and SCN2A mutations (all enrolled in the Phase 2 study). New genetic data (single nucleotide polymorphism microarray data and molecular inversion probe sequencing data) are available for many of the 16p11.2 CNV families enrolled in Phase 1.