Contribution of SHANK3 mutations to autism spectrum disorder.

By R. Moessner, C. Marshall, J. Sutcliffe, J. Skaug, D. Pinto, J. Vincent, Lonnie Zwaigenbaum, B. Fernandez, W. Roberts, Peter Szatmari and 1 more. American Journal of Human Genetics, 2007

655 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/5994e61e9dc5069bdcded62a93f74659f0617389

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cognitive Neuroscience

1. Thomas Bourgeron
2. Mark F. Bear
3. O. Marín
4. Roberto Toro
5. H. Zoghbi
6. Philippe Faure
7. Peter Szatmari
8. S. Webb

In Genetics

1. Thomas Bourgeron
2. Mark F. Bear
3. H. Zoghbi
4. O. Marín
5. Stephen W. Scherer
6. Stefan Schreiber
7. Dennis Vitkup
8. P. Ashwood

Citations in the corpus

• Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2 (2012, background): “(6) Complex: addition of one or more frequency component (not”
• Interneuron dysfunction in psychiatric disorders (2012, background): “Shank3 encodes a scaffolding protein that interacts with neuroligins and has been linked to ASD”
• The role of immune dysfunction in the pathophysiology of autism (2011, neutral): “Associations with ASD have been demonstrated for genes involved in a diverse range of functions including RELN (Skaar et al., 2005), SHANK3 (Moessner et al., 2007), NLGN3, NLGN4X (Jamain et al., 2003), MET (Campbell et al., 2006), GABRB3 (Buxbaum et al., 2002), OXTR (Wu et al., 2005), and SLC6A4…”
• Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, background): “Deletions spanning SHANK3 as well as protein-truncating mutations were discovered in patients with autism and ID (Durand et al. 2007; Moessner et al. 2007).”
• Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses (2011, background): “Importantly, there isgrowingevidence that rare sequencemutationsand de novo copy number variations (CNVs) (Marshall et al., 2008; Moessner et al., 2007; Pinto et al., 2010; Sebat et al., 2007) significantly contribute to autism etiology (Zhao et al., 2007).”
• Advances in autism genetics: on the threshold of a new neurobiology (2008, neutral): “Similarly, deletions involving 22q13 have been recognized for some time, but the important role of SH3 and multiple ankyrin repeat domains 3 ( SHANK3 ; a synaptic adaptor protein) was appreciated only after resequencing and CNV analysi”
• Structural variation of chromosomes in autism spectrum disorder. (2008, methodology): “Human Mapping Commercial or Early Access Arrays according to standard protocols.(9,18) Data have been submitted to the Gene”
• Consensus Paper: Pathological Role of the Cerebellum in Autism (2012, background): “Cerebellar vermis hypoplasia has been noted in seven patients with 22q13DS, suggesting that SHANK3 may be involved in cerebellar development [61, 62].”