SFARI | SFARI Funded Publications

Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin.

Stanton B.Z., Hodges C., Calarco J.P., Braun S.M., Ku W.L., Kadoch C., Zhao K., Crabtree G.

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties.

St Pourcain B., Robinson E., Anttila V., Sullivan B.B., Maller J., Golding J., Skuse D., Ring S., Evans D.M., Zammit S., Fisher S., Neale B.M., Anney R.J., Ripke S., Hollegaard M.V., Werge T., iPSYCH-SSI-Broad Autism Group, Ronald A., Grove J., Hougaard D.M., Borglum A.D., Mortensen P.B., Daly M., Davey Smith G.

A cell type-specific expression signature predicts haploinsufficient autism-susceptibility genes.

Zhang C., Shen Y.

Subcellular organization of UBE3A in neurons.

Burette A.C., Judson M.C., Burette S., Phend K.D., Philpot B., Weinberg R.J.

MECP2 regulates cortical plasticity underlying a learned behavior in adult female mice.

Krishnan K., Lau B.Y., Ewall G., Huang Z. J., Shea S.

Excessive ERK-dependent synaptic clustering with enhanced motor learning in the MeCP2 duplication syndrome mouse model of autism.

Ash R.T., Buffington S.A., Park J., Costa-Mattioli M., Zoghbi H., Smirnakis S.

Reverse pathway genetic approach identifies epistasis in autism spectrum disorders.

Mitra I., Lavillaureix A., Yeh E., Traglia M., Tsang K., Bearden C., Rauen K.A., Weiss L.

Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia and facial dysmorphism.

Harms F.L., Girisha K.M., Hardigan A.A., Kortum F., Shukla A., Alawi M., Dalal A., Brady L., Tarnopolsky M., Bird L.M., Ceulemans S., Bebin M., Bowling K.M., Hiatt S.M., Lose E.J., Primiano M., Chung W., Juusola J., Akdemir Z.C., Bainbridge M., Charng W.L., Drummond-Borg M., Eldomery M.K., El-Hattab A.W., Saleh M.A., Bezieau S., Cogne B., Isidor B., Kury S., Lupski J.R., Myers R.M., Cooper G.M., Kutsche K.

Denovo-db: A compendium of human de novo variants.

Turner T., Yi Q., Krumm N., Huddleston J., Hoekzema K., Stessman H., Doebley A.L., Bernier R., Nickerson D.A., Eichler E.

Experience-dependent and differential regulation of local and long-range excitatory neocortical circuits by postsynaptic Mef2c.

Rajkovich K.E., Loerwald K.W., Hale C.F., Hess C.T., Gibson J., Huber K.