Structural variation of chromosomes in autism spectrum disorder.
By C. Marshall, A. Noor, J. Vincent, A. Lionel, L. Feuk, J. Skaug, M. Shago, R. Moessner, D. Pinto, Yan Ren and 25 more. American Journal of Human Genetics, 2008
1,849 citations recorded by the source corpus.
Subfields: Cognitive Neuroscience, Genetics, Plant Science
View Paper: https://www.semanticscholar.org/paper/4a34c5fac74d7e50422b19373f0d65d73ef1887e
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
- Simon Baron-Cohen
- Daniel H. Geschwind
- Michael V. Lombardo
- Catherine Lord
- Bhismadev Chakrabarti
- Bonnie Auyeung
- Marion Leboyer
- Pauline Chaste
In Genetics
- Michael V. Lombardo
- Catherine Lord
- Bhismadev Chakrabarti
- Bonnie Auyeung
- Simon Baron-Cohen
- Eric Fombonne
- C. Betancur
- Marc Woodbury-Smith
In Plant Science
- Mark J. Daly
- Brendan J. Frey
- Stephen W. Scherer
- Michael C. Schatz
- Edwin H. Cook Jr.
- Elaine R. Mardis
Citations in the corpus
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011, background): “This overrepresentation of large de novo CNVs in ASD has been replicated in three subsequent studies involving cohorts ranging in size from 60 to 393 simplex trios (Itsara et al., 2010; Marshall et al., 2008; Pinto et al., 2010).”
- Why Are Autism Spectrum Conditions More Prevalent in Males? (2011, background): “Reduced Autosomal Penetrance in Females? A Final Theory For completeness we briefly mention a final theory, arising from studies of rare CNVs with ASC [67,74,100,101].”
- AutDB: a gene reference resource for autism research (2008, background): “Recently, submicroscopic copy number variations (CNVs) were strongly associated with ASD (8,14,15).”
- Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. (2011, background): “…revealed submicroscopic deletions and duplications, called copy number variation (CNV), affecting many loci and including de novo events in 5%–10% of ASD cases (Christian et al., 2008; Glessner et al., 2009; Marshall et al., 2008; Pinto et al., 2010; Sebat et al., 2007; Szatmari et al., 2007).”