De novo mutations revealed by whole-exome sequencing are strongly associated with autism

By Stephan J Sanders, M. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Willsey, A. Ercan-Sencicek, Nicholas M. DiLullo, Neelroop Parikshak, Jason L. Stein and 20 more. Nature, 2012

2,079 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/122b231f10c7693d8adb51eacd8b5106edc50278

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Citations in the corpus

Disentangling the heterogeneity of autism spectrum disorder through genetic findings (2014, neutral): “8,9,13 Exome or genome sequencing moves genetic analysis of patients to the level of the single base pair, expanding testing beyond individual or small groups of related genes, such as those usually detected by CMA.”
The Next-Generation Sequencing Revolution and Its Impact on Genomics (2013, neutral): “Four large-scale studies (Iossifov et al., 2012; Neale et al., 2012; O'Roak et al., 2012; Sanders et al., 2012) evaluated the impact of DNMs in autism spectrum disorder (ASD) via exome sequencing of family quartets (patient, parents, and an unaffected sibling).”
De novo mutations in human genetic disease (2012, background): “Patients with an ASD, Sanders et al.(13) 200 154 0.”
A SPECTRAL APPROACH INTEGRATING FUNCTIONAL GENOMIC ANNOTATIONS FOR CODING AND NONCODING VARIANTS (2016, background): “In total for ASD, we have n = 2,027 such mutations among which 1, 753 are missense [22, 23, 24, 25, 26].”
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism (2013, positive): “…sequencing technology has recently led to the systematic discovery of de novo loss of function (LoF) mutations carrying comparatively large biological effects in ASD (Iossifov et al., 2012; Kong et al., 2012; Neale et al., 2012; O’Roak et al., 2011, 2012a, 2012b; Sanders et al., 2012).”
Most genetic risk for autism resides with common variation (2014, background): “of heritability: (4) Swedish family study (95% confidence interval = 44–64%)21;”
A polygenic burden of rare disruptive mutations in schizophrenia (2014, positive): “, 2012) and autism (Iossifov et al., 2012; Neale et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) have made significant progress in identifying large-effect alleles and the underlying gene networks, however.”