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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Open accessAbstract
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no previous history of ASD or related phenotypes--so-called sporadic or simplex families--we sequenced all coding regions of the genome (the exome) for parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported. Additionally, we also sequenced the exomes of 50 unaffected siblings corresponding to these new (n = 31) and previously reported trios (n = 19), for a total of 677 individual exomes from 209 families. Here we show that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD. Moreover, 39% (49 of 126) of the most severe or disruptive de novo mutations map to a highly interconnected β-catenin/chromatin remodelling protein network ranked significantly for autism candidate genes. In proband exomes, recurrent protein-altering mutations were observed in two genes: CHD8 and NTNG1. Mutation screening of six candidate genes in 1,703 ASD probands identified additional de novo, protein-altering mutations in GRIN2B, LAMC3 and SCN1A. Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.
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In the citing paper
“Exome sequencing of ASD/ID families has revealed a significant excess of de novo mutations in probands when compared to unaffected siblings and has identified novel candidate genes contributing to the neurological deficits.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
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In the citing paper
“including that, prima facie , most proteins encoded by ASD risk genes are involved either in synaptic structure and function or chromatin modification and regulation of gene expression 38,46,47,58 (Fig. 3).”
From Autism spectrum disorder (2020) · cites this paper as [38]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“CNVs and SNPs have both been reported to play a major role in autism incidence (36–41).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [39]
In the citing paper
“An analysis of publicly released whole exome sequence data (Iossifov et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) showed a modest trend towards an excess of biallelic, inherited, rare (MAF<1%), protein-altering variants in cases (8/612 ) compared to control siblings (2/419) (p=0.21, Fisher’s exact test, two-tailed) in at least one of the genes we screened (Table S5).”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Hypomorphic, biallelic mutations, combined with CNVs and heterozygous stop mutations (Neale et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) which completely inactivate one of two alleles, suggest that a common theme for ASD mutations in general might be partial loss of gene function and/or dosage sensitivity.”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Together, results from these papers demonstrate a significant role for rare SNVs in genetic liability for ASD”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [49]
In the citing paper
“Exome and whole-genome sequencing studies have estimated at least another ∼6% contribution to ASD7–10,15”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [10]
In the citing paper
“and three other recent studies by Sanders et al.8, O’Roak et al.7 and Neale et al.23 (65 genes combined from all three; referred to as ‘SON-exomes’);”
From Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism (2014) · cites this paper as [7]
In the citing paper
“Genetic investigations in ASD have constructed seed-based networks with literature-curated PPIs to identify the convergence of ASD risk genes71,73.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“This approach was applied to identify a highly interconnected PPI subnetwork among rare de novo variants in ASD71.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“Many strong neurobiological candidates have emerged from the genes disrupted by de novo mutations in these studies, including mutations in previously identified ASD/ID genes.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“We note that the strongest effects are observed for de novo loss-of-function (or truncating) mutations”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“New exome sequencing technology has identified novel rare variants and has found that sporadic cases of ASD/ID are enriched for disruptive de novo mutations.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“Another striking candidate is DYRK1A (dual-specificity tyrosine phosphorylation-regulated kinase 1A), for which three truncating mutations have been discovered in autism probands [24,44] and de novo structural variants in ID probands [54,55].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“In summary, only three genes [CHD8, SCN2A, and synaptic Ras GTPase activating protein 1 (SYNGAP1)] had two independent truncating de novo mutations in any single study, and no gene had more than three mutations.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“one de novo frameshift of ARID1B was found in a sporadic ASD case [24]”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“In the case of paternal age, one mediating mechanism lies in the increased rate of de novo SNV and CNV with advancing paternal age (22,24,25,43,44).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [25]
In the citing paper
“TBR1 has been implicated in ASD (21,22,25,26) and ID (73).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [25]
In the citing paper
“Qualitatively, recent studies of rare variants also find it challenging to distinguish risk variation from the background stochastic noise (12–15).”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [13]
In the citing paper
“De novo loss of function mutations in this gene had previously been identified in two patients by WES2 and targeted resequencing16 of patients with ASD. In those studies however, causal relationship did not reach locus-specific significance.”
From A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (2014) · cites this paper as [2]
In the citing paper
“Albeit rare, de novo mutations have emerged as substantial contributors to ASD risk [83, 165, 166, 254, 261, 309].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [261]
In the citing paper
“Chromodomain helicase DNA-binding protein 8 (CHD8), encoding a chromatin modifying gene on chromosome 14q11.2, is one of the high-penetrance ASD risk genes recently identified by sequencing studies [83, 165, 261, 347].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [261]
In the citing paper
“no truncating coding-sequence variation within SHANK1 and SHANK3”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [36]
In the citing paper
“Recent exome sequencing studies only reported one de novo SHANK2 mutation out of 965 patients [32], [36], [37]”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [36]
In the citing paper
“estimates from de novo exonic mutations (similar to those from SV data) suggest that ASD is highly polygenic (estimates ranged from 400–1000 genes). 84,85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Three recent papers describe the results from exome sequencing of ~600 trios, and identify roles for de novo exonic mutations in SCN2A, KATNAL2, and CHD8 in the pathogenesis of ASD. 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Intriguingly, all three studies noted an increased rate of de novo exonic mutations in older parents (with the mutations generally being of paternal origin), 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“However, a central finding from these papers was that only a minority of cases had a de novo putatively functional variant”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Unexpectedly, simplex and multiplex ASD pedigrees show relatively similar de novo mutation rates for SV 80,81 and exonic variation. 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Projections for ASD and SCZ suggest that variation at hundreds of different genes will ultimately be shown to be involved. 58,80,85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“The published results for ASD 83–85 and unpublished data on SCZ suggest these issues will be important and underscore the need for sequencing studies to have the same emphasis on statistical rigor and large sample sizes that has enabled GWAS to realize success for multiple psychiatric disorders. 154”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
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BackgroundInfluentialThe discovery of integrated gene networks for autism and related disorders
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Self-citationProperties and rates of germline mutations in humans
Campbell, C. D., & Eichler, E. E. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.04.005 · Cited by 292
“The higher mutation rates reported in or near protein-coding regions may be explained in part by the higher GCcontent of these regions[13, 15, 16] in combination with the effects of transcription associated mutations[67].”
BackgroundInfluentialSelf-citationMethylomic trajectories across human fetal brain development
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“De novo variants showed evidence of nonrandom clustering (Figure S5), and the number of new mutations significantly correlated with paternal age (Figure 3A) as described previously.(18,55) Application of a second caller, TrioDeNovo, discovered an additional 2,341 variants (missed by DNMFilter), albeit with a lower VR.”
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The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology
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Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
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“De novo mutations in the autism-related chromatin modifier CHD8 are well studied,(88,270) with multiple de novo, truncating, or missense mutations observed in ASD patients.(81,82,88,130) CHD8 is located at active transcription sites with the histone modification H3K4me3 or H3K27ac and recruits histone H1 to target gen…”
BackgroundWang, P., Mokhtari, R., Pedrosa, E., Kirschenbaum, M. A., Bayrak, C., Zheng, D., & Lachman, H. M. (2017) · Molecular Autism · doi:10.1186/s13229-017-0124-1 · Cited by 260
“This is notable because loss of function CHD8 mutations are associated with large head circumference, a finding that has been experimentally validated in a zebrafish model [2, 3].”
BackgroundChd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits
Platt, R. J., Zhou, Y., Slaymaker, I. M., Shetty, A. S., Weisbach, N. R., Kim, J.-A., Sharma, J., Desai, M., Sood, S., Kempton, H. R., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.03.052 · Cited by 240
“Sequencing-based studies have identified over 800 risk alleles, highlighting the genetic complexity of ASD (Abrahams and Geschwind, 2008; Iossifov et al., 2012; O’Roak et al., 2011, 2012a, 2012b; Parikshak et al., 2013).”
BackgroundInfluentialCadherins and neuropsychiatric disorders
Redies, C., Hertel, N., & Hübner, C. A. (2012) · Brain Research · doi:10.1016/j.brainres.2012.06.020 · Cited by 265
Dopamine Secretion Is Mediated by Sparse Active Zone-like Release Sites
Liu, C., Kershberg, L., Wang, J., Schneeberger, S., & Kaeser, P. S. (2018) · Cell · doi:10.1016/j.cell.2018.01.008 · Cited by 256
Sequencing studies in human genetics: design and interpretation
Goldstein, D. B., Allen, A. S., Keebler, J., Margulies, E. H., Petrou, S., Petrovski, S., & Sunyaev, S. R. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3455 · Cited by 262
A Comprehensive Assessment of Parental Age and Psychiatric Disorders
McGrath, J. J., Petersen, L., Agerbo, E., Mors, O., Mortensen, P. B., & Pedersen, C. B. (2014) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2013.4081 · Cited by 253
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Griesi-Oliveira, K., Acab, A., Gupta, A. R., Sunaga, D. Y., Chailangkarn, T., Nicol, X., Nunez, Y., Walker, M. F., Murdoch, J. D., Sanders, S. J., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.141 · Cited by 236
Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms
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“P A A uthor M anuscript 2008; Glessner et al., 2009; Jiang et al., 2013; Morrow et al., 2008; Noor et al., 2010; O'Roak et al., 2012; Pagnamenta et al., 2011; Pinto et al., 2010; Sanders et al., 2011; Vincent et al., 2012; Wang et al., 2009).”
The Role of Epigenetic Change in Autism Spectrum Disorders
Loke, Y. J., Hannan, A. J., & Craig, J. M. (2015) · Frontiers in Neurology · doi:10.3389/fneur.2015.00107 · Cited by 266
The BAF complex in development and disease
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
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Advancing epilepsy genetics in the genomic era
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“Mutations in SCN1A have been found in patients from autism cohorts [73], and mutations in SCN2A cause a range of neurodevelopmental conditions with and without seizures [74].”
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Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling
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Somatic mosaicism and neurodevelopmental disease
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Estimating the human mutation rate using autozygosity in a founder population.
Campbell, C. D., Chong, J. X., Malig, M., Ko, A., Dumont, B. L., Han, L., Vives, L., O'Roak, B. J., Sudmant, P. H., Shendure, J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2418 · Cited by 215
Self-citationPersico, A. M., & Napolioni, V. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2013.06.012 · Cited by 258
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders
Heyes, S., Pratt, W. S., Rees, E., Dahimène, S., Ferron, L., Owen, M. J., & DOLPHIN, A. C. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.09.002 · Cited by 241
“It is interesting that two of the mutations described above to be associated with autism spectrum disorder (G407R and A749G) (Iossifov et al., 2012; O’Roak et al., 2012; De Rubeis et al., 2014) were located near to the residues mutated in patients with primary aldosteronism and neurological…”
BackgroundInfluentialThe road to precision psychiatry: translating genetics into disease mechanisms
Gandal, M. J., Leppa, V., Won, H., Parikshak, N. N., & Geschwind, D. H. (2016) · Nature Neuroscience · doi:10.1038/nn.4409 · Cited by 223
Boycott, K. M., Hartley, T., Adam, S., Bernier, F. P., Chong, K., Fernandez, B. A., Friedman, J. M., Geraghty, M. T., Hume, S. L., Knoppers, B. M., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103144 · Cited by 238
Human GRIN2B variants in neurodevelopmental disorders
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Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
Willsey, H. R., Willsey, A. J., Wang, B., & State, M. W. (2022) · Nature reviews. Neuroscience · doi:10.1038/s41583-022-00576-7 · Cited by 239
Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system
Cristino, A. S., Williams, S. M., Hawi, Z., An, J., Bellgrove, M. A., Schwartz, C. E., Costa, L. D. F., & Claudianos, C. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.16 · Cited by 229
Genetics and epigenetics of autism spectrum disorder—current evidence in the field
Wiśniowiecka‐Kowalnik, B., & Nowakowska, B. (2019) · Journal of Applied Genetics · doi:10.1007/s13353-018-00480-w · Cited by 249
Age thresholds for changes in semen parameters in men
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“This finding is also of interest considering the recent report that the incidence of paternally derived de novo point mutations in offspring increases steeply when paternal age exceeds 35 years (40).”
Kim, Y. S., & LEVENTHAL, B. L. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.11.001 · Cited by 244
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A Quantitative Framework to Evaluate Modeling of Cortical Development by Neural Stem Cells
Stein, J. L., de la Torre-Ubieta, L., Tian, Y., Parikshak, N. N., Hernández, I. A., Marchetto, M. C., Baker, D. K., Lu, D., Hinman, C. R., Lowe, J. K., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.05.035 · Cited by 201
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders
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Patterns of de novo tandem repeat mutations and their role in autism
Mitra, I., Huang, B., Mousavi, N., Ma, N., Lamkin, M., Yanicky, R., Shleizer-Burko, S., Lohmueller, K. E., & Gymrek, M. (2021) · Nature · doi:10.1038/s41586-020-03078-7 · Cited by 194
Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.09.017 · Cited by 219
Doorenweerd, N., Mahfouz, A. E., van Putten, M., Kaliyaperumal, R., Hoen, P. A. C. ’., Hendriksen, J. G. M., Aartsma-Rus, A. M., Verschuuren, J. J. G. M., Niks, E. H., Reinders, M. J. T., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-12981-5 · Cited by 235
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
Leppä, V., Kravitz, S. N., Martin, C. L., Andrieux, J., Caignec, C. L., Martin‐Coignard, D., DyBuncio, C. T., Sanders, S., Lowe, J. K., Cantor, R. M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.06.036 · Cited by 229
“CNVs in ASD-Associated Genes and Candidate Genes Recent exome sequencing studies in simplex families have identified several genes in which children with ASD carry disruptive de novo point mutations that are associated with the disorder.(5,6,8,15,52,53) We scrutinized all CNVs in 71 regions and genes with ASD-associat…”
Backgrounddenovo-db: a compendium of humande novovariants
Turner, T. N., Qian, Y., Krumm, N., Huddleston, J., Hoekzema, K., Stessman, H. A. F., Doebley, A.-L., Bernier, R., Nickerson, D. A., & Eichler, E. E. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw865 · Cited by 221
Self-citationA Genotype-First Approach to Defining the Subtypes of a Complex Disease
Stessman, H. A. F., Bernier, R., & Eichler, E. E. (2014) · Cell · doi:10.1016/j.cell.2014.02.002 · Cited by 227
Self-citationGenetics and genomics of autism spectrum disorder: embracing complexity
De Rubeis, S., & Buxbaum, J. D. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv273 · Cited by 208
“TBR1 has been implicated in ASD (21,22,25,26) and ID (73).”
BackgroundClinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.
Viscidi, E. W., Triche, E. W., Pescosolido, M. F., McLean, R. L., Joseph, R. M., Spence, S. J., & Morrow, E. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0067797 · Cited by 235
“Recent sequencing studies in autism have identified de novo variants in a variety of epilepsy-related genes [60,61,62,63].”
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“It is puzzling that many independent gene mutations were detected in schizophrenia and ASDs; nearly all of these mutations are so rare that their significance is difficult to evaluate (O’Roak et al., 2012; Sanders et al., 2012; Purcell et al., 2014; Fromer et al., 2014).”
BackgroundGenotype to phenotype relationships in autism spectrum disorders
Chang, J., Gilman, S. R., Chiang, A. H., Sanders, S. J., & Vitkup, D. (2015) · Nature Neuroscience · doi:10.1038/nn.3907 · Cited by 197
“Although previous studies primarily emphasized the role of truncating de novo mutations in ASD 3, 7, 8 , our analysis suggests that a substantial fraction of non-truncating de novo missense mutations observed in probands also contributes to the disorder.”
Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene
Takata, A., Xu, B., Ionita-Laza, I., Roos, J. L., Gogos, J. A., & Karayiorgou, M. (2014) · Neuron · doi:10.1016/j.neuron.2014.04.043 · Cited by 204
“…by de novo LOF or damaging missense variants in controls from various cohorts (number of genes = 77) (Gulsuner et al., 2013; Iossifov et al., 2012; O'Roak et al., 2012b; Rauch et al., 2012; Sanders et al., 2012; Xu et al., 2012), or among intolerant genes hit by less damaging missense (PolyPhen…”
Accurate de novo and transmitted indel detection in exome-capture data using microassembly
Narzisi, G., O'Rawe, J., Iossifov, I. H., Fang, H., Lee, Y.-H., Wang, Z., Wu, Y., Lyon, G. J., Wigler, M. H., & Schatz, M. C. (2014) · Nature Methods · doi:10.1038/nmeth.3069 · Cited by 216
Genetics of autism spectrum disorder
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“Although the genes identified so far are functionally heterogeneous, many of them are significantly involved in synaptic formation, transcriptional regulation, and chromatin remodeling (De Rubeis et al., 2014; O’Roak et al., 2012a, 2014).”
BackgroundExonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
Krupp, D. R., Barnard, R. A., Duffourd, Y., Evans, S. A., Mulqueen, R. M., Bernier, R., Rivière, J.-B., Fombonne, E., & O’Roak, B. J. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.07.016 · Cited by 204
Self-citationHamilton, P. J., Campbell, N. G., Sharma, S., Erreger, K., Herborg, F., Saunders, C., Belovich, A. N., Daly, M. J., Gibbs, R. A., Boerwinkle, E., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.102 · Cited by 209
Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia
Pocklington, A. J., Rees, E., Walters, J. T. R., Han, J., Kavanagh, D. H., Chambert, K. D., Holmans, P., Moran, J. L., McCarroll, S. A., Kirov, G., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.04.022 · Cited by 193
“These consisted of healthy controls and unaffected siblings collated from six separate studies (Gulsuner et al., 2013; Iossifov et al., 2012; O’Roak et al., 2012; Rauch et al., 2012; Sanders et al., 2012; Xu et al., 2012).”
BackgroundLi, J., Cai, T., Jiang, Y. W., Chen, H., He, X., Chen, C., Li, X., Shao, Q., Xia, R., Li, Z., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.40 · Cited by 212
A Short Review on the Current Understanding of Autism Spectrum Disorders
Park, H. R., Lee, J. M., Moon, H. E., Lee, D. S., Kim, B.-N., Kim, J., Kim, D. G., & Paek, S. H. (2016) · Experimental Neurobiology · doi:10.5607/en.2016.25.1.1 · Cited by 243
“GRIN2B [131] 12p13.”
Suwinski, P., Ong, C. K., Ling, M. H., Poh, Y. M., Khan, A. M., & Ong, H. S. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00049 · Cited by 218
A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder
Prasad, A., Merico, D., Thiruvahindrapuram, B., Wei, J., Lionel, A. C., Sato, D., Rickaby, J., Lu, C., Szatmari, P., Roberts, W., et al. (2012) · G3 Genes|Genomes|Genetics · doi:10.1534/g3.112.004689 · Cited by 206
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Won, H., Mah, W., & Kim, E. (2013) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00019 · Cited by 217
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
Nakamura, K., Kato, M., Osaka, H., Yamashita, S., Nakagawa, E., Haginoya, K., Tohyama, J., Okuda, M., Wada, T., Shimakawa, S., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a43e57 · Cited by 201
Metadata
- Authors
- O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J. M., Borenstein, E., Rieder, M. J., Nickerson, D. A., Bernier, R., Shendure, J., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- Santa Fe Institute (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Shendure, Jay
- Eichler, Evan E.
- ORCID
- Venue
- Nature
- Published
- 2012-04-04
- Volume
- 485
- Issue
- 7397
- Pages
- 246-250
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3350576
- OpenAlex
- W1964444099
- Cited by
- 2,165
- References
- 50
- Citations by year
- 2026: 42 · 2025: 68 · 2024: 85 · 2023: 101 · 2022: 104 · 2021: 137 · 2020: 151 · 2019: 147 · 2018: 143 · 2017: 173 · 2016: 198 · 2015: 219 · 2014: 262 · 2013: 212 · 2012: 118
- FWCI
- 131.12
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Simons Foundation
- University of Washington
- Simons Foundation Autism Research Initiative (137578)
- National Institutes of Health
- National Heart, Lung, and Blood Institute (HL-102924, RC2HL102926, RC2HL102923, UC2HL102924, HL 1029230, R01HL094976, HL094976, RC2HL102924, UC2HL102926, HL-102926)
- National Human Genome Research Institute
- National Institute of Environmental Health Sciences (HHSN273200800010C)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD065285, R01HD065285)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- de novo mutations, paternal age, protein-protein interaction network, β-catenin signaling, chromatin remodeling, CHD8, SCN2A, NTNG1, locus heterogeneity, simplex families, autism risk genes, parent-child trios, unaffected siblings, recurrent mutations, p53 pathway, copy number variation
- MeSH terms
- Netrins, Autistic Disorder, DNA-Binding Proteins, Exons, Humans, Laminin, Nerve Tissue Proteins, Parents, Stochastic Processes, Transcription Factors, Reproducibility of Results, Sodium Channels, Signal Transduction, Tumor Suppressor Protein p53, Receptors, N-Methyl-D-Aspartate, Point Mutation, Genetic Predisposition to Disease, Siblings, beta Catenin, GPI-Linked Proteins, Exome, Protein Interaction Maps, NAV1.1 Voltage-Gated Sodium Channel
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