Single-molecule fluorescence in-situ hybridization reveals that human SHANK3 mRNA expression varies during development and in autism-associated SHANK3 heterozygosity

Betancur C(2013)SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders Mol Autism 4 17-27

Buxbaum JD(2011)Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome PLoS Genet 7 e1002173-316

Bonaglia MC(2011)Protein interactome reveals converging molecular pathways among autism disorders Sci Transl Med 3 86ra49-27

Giorda R(2013)Modeling autism by SHANK gene mutations in mice Neuron 78 8-1856

Beri S(2012)High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism PLoS One 7 e35003-271

De Agostini C(2012)Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders Eur J Hum Genet 21 310-466

Novara F(2007)Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders Nat Genet 39 25-419

Fichera M(2000)The Shank family of scaffold proteins J Cell Sci 113 1851-114

Grillo L(2013)SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients Nature 503 267-123

Galesi O(2012)The local transcriptome in the synaptic neuropil revealed by deep sequencing and high-resolution imaging Neuron 74 453-1088

Betancur C(2013)SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders Mol Autism 4 17-27

Buxbaum JD(2011)Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome PLoS Genet 7 e1002173-316

Bonaglia MC(2011)Protein interactome reveals converging molecular pathways among autism disorders Sci Transl Med 3 86ra49-27

Giorda R(2013)Modeling autism by SHANK gene mutations in mice Neuron 78 8-1856

Beri S(2012)High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism PLoS One 7 e35003-271

De Agostini C(2012)Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders Eur J Hum Genet 21 310-466

Novara F(2007)Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders Nat Genet 39 25-419

Fichera M(2000)The Shank family of scaffold proteins J Cell Sci 113 1851-114

Grillo L(2013)SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients Nature 503 267-123

Galesi O(2012)The local transcriptome in the synaptic neuropil revealed by deep sequencing and high-resolution imaging Neuron 74 453-1088