Paul Sternberg and colleagues establish an initial pipeline in C. elegans to screen autism-associated missense mutations for functional effects.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs and variants in 21 single genes associated with autism and related neurodevelopmental disorders.
SFARI is now curating a set of zebrafish lines to study autism spectrum disorder. This includes mutant lines for 12 ASD risk genes, four of which are currently available to researchers and eight that will be available later this year.
A new collaboration between SFARI and the Nancy Lurie Marks Family Foundation will generate hundreds of induced pluripotent stem cells from individuals with autism and related neurodevelopmental conditions. These cell lines will become available to researchers starting next year.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 29 single genes associated with autism and related neurodevelopmental conditions.
Kurt Haas and colleagues used multiple models and bioassays to assess the functional impact of more than 100 missense and nonsense mutations in PTEN, allowing for high-confidence predictions of pathogenicity.
SFARI is pleased to announce that it intends to fund 19 grants in response to the Summer 2020 Pilot Award request for applications.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 32 single genes associated with autism and related neurodevelopmental conditions.
Zebrafish lines for autism risk genes DYNC1H1 and MEF2C have been recently added to SFARI resources to study autism spectrum disorder.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 32 single genes associated with autism and related neurodevelopmental conditions.