Strong Association of De Novo Copy Number Mutations with Autism
By Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra, J. Troge, Christa Lese-Martin, T. Walsh, B. Yamrom, Seungtai Yoon, A. Krasnitz, J. Kendall and 22 more. Science, 2007
2,845 citations recorded by the source corpus.
Subfields: Cognitive Neuroscience, Genetics, Pediatrics, Perinatology and Child Health
View Paper: https://www.semanticscholar.org/paper/39990d887387b14f6d8e6918b37c6f8ea93bf8ff
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
- C. Betancur
- Donna M. Werling
In Genetics
- Greg Gibson
- Michael V. Lombardo
- Mark J. Daly
- Catherine Lord
- Simon Baron-Cohen
- David Altshuler
- Bhismadev Chakrabarti
- Bonnie Auyeung
In Pediatrics, Perinatology and Child Health
- Catherine Lord
- Mark J. Daly
- David Altshuler
- Geraldine Dawson
- Stephen W. Scherer
- Stefan Schreiber
- Edwin H. Cook Jr.
- Eric Fombonne
Citations in the corpus
- A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay (2010, neutral): “0, or Representational Oligonucleotide Microarray Analysis (ROMA”
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011, neutral): “Several observations support the hypothesis that the genetic basis for ASD in sporadic cases may differ from that of families with multiple affected individuals, with the former more likely to result from de novo mutation events rather than inherited variants 1,5–7 .”
- De Novo Gene Disruptions in Children on the Autistic Spectrum (2012, background): “Analysis of the de novomutations has demonstrated a large number of potential autism target genes (Gilman et al., 2011; Levy et al., 2011; Marshall et al., 2008; Pinto et al., 2010; Sanders et al., 2011; Sebat et al., 2007).”
- The Simons Simplex Collection: a resource for identification of autism genetic risk factors. (2010, background): “But there may be many relevant CNVs, and all together, they may account for a significant fraction of idiopathic autism (Christian et al., 2008; Sebat et al., 2007; Weiss et al., 2008).”