Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

By C. Betancur. Brain Research, 2011

916 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/c6426e1256c51bc2640db3fe8c4921427ef6bb7a

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Citations in the corpus

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) (2013, neutral): “Letter to the Editor Previous work has crafted curated lists of genes implicated in autism spectrum disorders (ASDs) [1-5], and in some cases developed loosely defined “evidence scores” for entries [6-8].”
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, background): “…mutations in ASD with ID are associated with fragile X syndrome ( FMR1 ), tuberous sclerosis ( TSC1 , TSC2 ), neurofibromatosis ( NF1 ), Angelman syndrome ( UBE3A ), Rett syndrome ( MECP2 ), the PTEN hamartoma tumor syndrome, and Phelan-McDermid syndrome ( SHANK3 ) (for review, see Betancur 2011).”
An Evolutionary Life History Framework for Psychopathology (2014, background): “Although ASDs are substantially heritable, they are also highly heterogeneous in their genetic substrate (Betancur, 2011; Sanders et al., 2012).”
Patterns and rates of exonic de novo mutations in autism spectrum disorders (2012, background): “There are also documented instances of rare single nucleotide variants (SNVs) that are highly penetrant for ASD 6 .”
The human splicing code reveals new insights into the genetic determinants of disease (2014, background): “The analysis reveals interesting candidates, and only CTNND2 and PTEN have been previously implicated or suggested to play a role in ASD (35, 43).”
Disruptive CHD8 mutations define a subtype of autism early in development (2014, background): “More than 100 genes and genomic regions have been associated with ASD (Betancur, 2011), and >800 genes have been suggested to play a role in Cell 158, 263–276, July 17, 2014 ª2014 Elsevier Inc. 263 9873678 CNV-dup mild ID unknown aPatient mutation was previously reported (O’Roak et al., 2012b).…”
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder (2017, positive): “Among these, 43 were found to be ASD-risk genes in a previous meta-analysis of exome sequencing 24 or in other CNV studies 10,15,17 .”
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders (2014, methodology): “For the DAPPLE analysis, we compiled the following lists of genes: (1) 113 genes identified from our de novo CNVs by NETBAG; (2) 122 genes with de novo LoF SNVs from four published exome sequencing studies; (3) 31 genes with hemizygous LoF SNVs on the X chromosome of male ASD subjects and not observ”