The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Open accessAbstract
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified. To identify further genetic risk factors, here we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n = 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo variant, and the overall rate of mutation is only modestly higher than the expected rate. In contrast, the proteins encoded by genes that harboured de novo missense or nonsense mutations showed a higher degree of connectivity among themselves and to previous ASD genes as indexed by protein-protein interaction screens. The small increase in the rate of de novo events, when taken together with the protein interaction results, are consistent with an important but limited role for de novo point mutations in ASD, similar to that documented for de novo copy number variants. Genetic models incorporating these data indicate that most of the observed de novo events are unconnected to ASD; those that do confer risk are distributed across many genes and are incompletely penetrant (that is, not necessarily sufficient for disease). Our results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5- to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case–control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors.
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In the citing paper
“TADA requires a mutational model (Sanders et al., 2012; Neale et al., 2012; Samocha et al., 2014) which accounts for gene size and sequence composition to obtain an expectation for mutations per gene, given sample size.”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as Neale et al., 2012
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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 [25]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Simulations based on the observed number of recurrently disrupted genes have estimated that there are some 600-1200 ASD risk genes (21,24,26,51).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [21]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“mutations in chromatin complexes have been observed in schizophrenia where synaptic gene regulation is disrupted, and these mutations are also high-confidence genetic risk factors for ASD”
From The clinical use of epigenetics in psychiatry: a narrative review of epigenetic mechanisms, key candidate genes, and precision psychiatry (2025) · cites this paper as [42]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“These studies demonstrate the ability of new sequencing technologies to significantly advance our understanding of the genetic basis of ASD.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [8]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“One of the INH-M13 hub genes is CHD2, whose de novo variants have been identified in individuals with ASD.42,43”
From hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data (2023) · cites this paper as [43]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“One of the INH-M13 hub genes is CHD2, whose de novo variants have been identified in individuals with ASD.42,43”
From hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data (2023) · cites this paper as [43]
Experimental — accuracy not yet measuredIn 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 [38]
In the citing paper
“These estimates are similar to published results using somewhat different methods [1], [2].”
From Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes (2013) · cites this paper as [2]
In the citing paper
“Exome sequencing has uncovered de novo single nucleotide variations (SNVs) and insertion/deletion (indel) mutations that segregate with ASD.”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Neale 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 Neale et al., 2012
In the citing paper
“ASD is often due to newly arising gene copy number variants (CNVs) — such as a deletion or duplication of a region of a chromosome — or a rare mutation that arises in the germ cell, particularly in sperm of older fathers5–10.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [8]
In the citing paper
“In addition, very recent exome sequencing of parent-offspring trios has identified de novo exonic mutations in SCN2A, KATNAL2, CHD8, FOXP1, NTNG1, GRIN2B, LAMC3(refs 7–9), extending further the number of genes for which mutation may contribute to ASD.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [8]
In the citing paper
“References 7– 10 use exome and entire genome sequencing to demonstrate the importance of rare mutations in ASD and identify new genetic mutations associated with ASD.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [8]
In the citing paper
“and also that the loci hit by these SNVs are highly heterogeneous”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [48]
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 [48]
In the citing paper
“finding a handful of genes that are recurrently hit by these rare variants”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [48]
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 [8]
In the citing paper
“De novo SNVs in CHD2 have been reported in an ASD subject and in several individuals with a broad spectrum of neurodevelopmental disorders, including ID and epileptic encephalopathy8,49,50 (Figure S6).”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [8]
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 [23]
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 [73]
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 [25]
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 [25]
In the citing paper
“Notably, however, a follow-up case-control study by Neale and colleagues of 935 cases found three additional truncating CHD8 mutations and one splice-site mutation in SCN2A, further strengthening the initial disease associations of these genes [25].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [25]
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 [25]
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 [25]
In the citing paper
“To date, in addition to causal and highly penetrant genes and genomic loci identified before whole-exome sequencing (15,30), over 50 high-risk genes have emerged from the large-scale sequencing studies (21)(22)(23)(24)(25)(26), most under a model of autosomal dominant variation.”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [21]
In the citing paper
“Rare genetic risk variation identified to date, in contrast, has a very substantial effect on individual risk.Recent whole-exome sequencing analyses of large ASD cohorts (21)(22)(23)(24)(25)(26)(27)(28)(29) have expanded the repertoire of known genes harboring ASD-linked mutations”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [21]
In the citing paper
“At this point, it is clear that rare microscopically detectable chromosomal rearrangements (14,15), submicroscopic deletions or duplications (CNV or smaller structural variation) (27,(29)(30)(31)(32), single-nucleotide variation (SNV) and small deletions and duplications (indels) (21)(22)(23)(24)(25)(26)(33)(34)(35) all contribute to risk.”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [21]
In the citing paper
“Recent whole-exome sequencing analyses of large ASD cohorts (21)(22)(23)(24)(25)(26)(27)(28)(29) have expanded the repertoire of known genes harboring ASD-linked mutations that were previously identifiable only by traditional genetic approaches and targeted sequencing (14,15).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [21]
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 [21]
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 [14]
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 [254]
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 [37]
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 [37]
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 [84]
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 [84]
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 [84]
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 [84]
In the citing paper
“pathway analyses reported in two of the studies found that genes containing de novo exonic variation were more closely connected in reference to protein-protein interaction databases. 83,84”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [84]
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 [84]
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 [84]
In the citing paper
“Many studies of complex neuropsychiatric disorders have also concluded that disease-causing variants are often clustered in protein-interaction networks with a high degree of connectivity among themselves and that these clustered networks are often enriched with functional pathways relevant to brain functions [72–80].”
From An integrated analysis of genes and functional pathways for aggression in human and rodent models (2019) · cites this paper as [72]
In the citing paper
“These three studies report de novo mutations with a twofold to fourfold increase in de novo nonsense variants among affected subjects over that expected by chance”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [36]
In the citing paper
“two of these studies report that spontaneous changes are correlated with paternal age”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [36]
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Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
Self-citationA method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
Self-citationFast and accurate long-read alignment with Burrows-Wheeler transform.
Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,508
Self-citationRare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.029 · Cited by 2,373
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
Self-citationFunctional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · cited 1×
“Copy number variants (CNVs), often de novo and covering multiple adjacent genes, have been identified as conferring risk 3,4 .”
BackgroundSelf-citationGenetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
Hallmayer, J. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.76 · Cited by 1,970
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Larsen, E., Menashe, I., Ziats, M. N., Pereanu, W., Packer, A. I., & Banerjee‐Basu, S. (2016) · Molecular Autism · doi:10.1186/s13229-016-0103-y · Cited by 50
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Sahu, R. K., Singh, S., & Tomar, R. S. (2020) · Biochemical Pharmacology · doi:10.1016/j.bcp.2020.114200 · Cited by 50
Thanh, L. N., Nguyen, H.-P., Ngo, M., Bui, V. A., Dam, P. T. M., Bui, H. T. P., Ngo, D. V., Kiên, T. T., Dang, T. T. T., Duong, B. D., et al. (2020) · Stem Cells Translational Medicine · doi:10.1002/sctm.20-0102 · Cited by 49
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Honti, F., Meader, S., & Webber, C. (2014) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1003815 · Cited by 46
McOmish, C. E., Burrows, E. L., & Hannan, A. J. (2014) · British Journal of Pharmacology · doi:10.1111/bph.12783 · Cited by 48
Lin, M., Zhao, D., Hrabovsky, A., Pedrosa, E., Zheng, D., & Lachman, H. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0094968 · Cited by 50
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
Fukai, R., Hiraki, Y., Yofune, H., Tsurusaki, Y., Nakashima, M., Saitsu, H., Tanaka, F., Miyake, N., & Matsumoto, N. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.13 · Cited by 48
Kim, Y. S., & State, M. W. (2014) · International Journal of Epidemiology · doi:10.1093/ije/dyu037 · Cited by 50
Wang, Q., Li, M., Yang, Z., Hu, X., Wu, H.-M., Ni, P., Ren, H., Deng, W., Li, M., Ma, X., et al. (2015) · Scientific Reports · doi:10.1038/srep18209 · Cited by 49
Pathwise coordinate optimization for sparse learning: Algorithm and theory
Zhao, T., Liu, H., & Zhang, T. (2018) · The Annals of Statistics · doi:10.1214/17-aos1547 · Cited by 50
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Kang, L., Liu, Y., Shen, M., Liu, Y., He, R., Song, J., Jin, Y. S., Li, M., Zhang, Y., Dong, H. F., et al. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12183 · Cited by 48
Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder
Frye, R. E., Rossignol, D. A., Scahill, L. D., McDougle, C. J., Huberman, H. S., & Quadros, E. V. (2020) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2020.100835 · Cited by 48
Dual-specificity phosphatases in mental and neurological disorders
An, N., Bassil, K. C., Jowf, G. I. A., Steinbusch, H. W. M., Rothermel, M., de Nijs, L., & Rutten, B. P. F. (2020) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2020.101906 · Cited by 47
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Torrico, B., Chiocchetti, A. G., Bacchelli, E., Trabetti, E., Hervás, A., Franke, B., Buitelaar, J. K., Rommelse, N., Yousaf, A., Duketis, E., et al. (2017) · Autism Research · doi:10.1002/aur.1662 · Cited by 47
Nelson, A. D., Catalfio, A. M., Gupta, J. P., Min, L. Y., Caballero-Florán, R. N., Dean, K. P., Elvira, C. C., Derderian, K. D., Kyoung, H., Sahagun, A., et al. (2024) · Neuron · doi:10.1016/j.neuron.2024.01.003 · Cited by 52
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Chakravorty, S., & Hegde, M. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022545 · Cited by 47
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Chen, C., & Horn, J. D. V. (2016) · Brain Imaging and Behavior · doi:10.1007/s11682-015-9504-3 · Cited by 55
Oberman, L. M., Ifert‐Miller, F., Najib, U., Bashir, S., Gonzalez–Heydrich, J., Picker, J. D., Rotenberg, A., & Pascual‐Leone, Á. (2016) · Journal of Child and Adolescent Psychopharmacology · doi:10.1089/cap.2015.0166 · Cited by 50
Girard, S., Bourassa, C. V., Perreault, L. L., Legault, M., Barhdadi, A., Ambalavanan, A., Brendgen, M. R., Vitaro, F., Noreau, A., Dionne, G., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0164212 · Cited by 49
Jin, Z., Li, Z., Liu, Z., Jiang, Y. W., Cai, X., & Wu, J. (2017) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/brv.12383 · Cited by 51
Kalsner, L., Twachtman‐Bassett, J., Tokarski, K., Stanley, C. M., Dumont-Mathieu, T. M., Cotney, J. L., & Chamberlain, S. J. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.354 · Cited by 48
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Ellis, S. E., Panitch, R., West, A. B., & Arking, D. E. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.87 · Cited by 48
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Mouse population genetics phenocopies heterogeneity of human Chd8 haploinsufficiency
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Voineagu, I., & Yoo, H. J. (2013) · Disease Markers · doi:10.1155/2013/476276 · Cited by 50
RareRELNvariants affect Reelin-DAB1 signal transduction in autism spectrum disorder
Sánchez-Sánchez, S. M., Magdalon, J., Griesi‐Oliveira, K., Yamamoto, G. L., Santacruz-Pérez, C., Fogo, M. S., Passos‐Bueno, M. R., & Sertie, A. L. (2018) · Human Mutation · doi:10.1002/humu.23584 · Cited by 45
Regulatory genes and pathways disrupted in autism spectrum disorders
Ayhan, F., & Konopka, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.08.017 · Cited by 46
Heterogeneity and convergence: the synaptic pathophysiology of autism
Baudouin, S. J. (2014) · European Journal of Neuroscience · doi:10.1111/ejn.12498 · Cited by 45
A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation
Martin, P.-M., Yang, X., Robin, N. C., Lam, E. T., Rabinowitz, J. S., Erdman, C. A., Quinn, J. F., Weiss, L. A., Hamilton, S. P., Kwok, P.-Y., et al. (2013) · Translational Psychiatry · doi:10.1038/tp.2013.75 · Cited by 44
Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era
Jiang, Y., Wang, Y., Xu, X., Choy, K. W., Pursley, A. N., & Cheung, S. W. (2014) · Critical Reviews in Clinical Laboratory Sciences · doi:10.3109/10408363.2014.910747 · Cited by 47
Robinson, E., Kirby, A. W., Ruparel, K., Yang, J., McGrath, L. M., Anttila, V., Neale, B. M., Merikangas, K. R., Lehner, T., Abou‐Sleiman, P. M., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.65 · Cited by 43
Self-citationWhole-exome sequencing of a pedigree segregating asthma
DeWan, A. T., Egan, K. B., HELLENBRAND, K. G., Sorrentino, K. M., Pizzoferrato, N., Walsh, K. M., & Bracken, M. B. (2012) · BMC Medical Genetics · doi:10.1186/1471-2350-13-95 · Cited by 44
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders
Campistol, J., Díez‐Juan, M., Póo, L. C., Miguel, A. F., Casado, M., Cazorla, À. G., Lozano, R., & Artuch, R. (2016) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13114 · Cited by 44
Novel bioinformatic developments for exome sequencing
Lelieveld, S. H., Veltman, J. A., & Gilissen, C. (2016) · Human Genetics · doi:10.1007/s00439-016-1658-6 · Cited by 46
Roussos, P., Guennewig, B., Kaczorowski, D. C., Barry, G., & Brennand, K. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.2575 · Cited by 46
Montenegro, E. M. D. S., Costa, C. S., Campos, G. D. S., Scliar, M. O., de Almeida, T. F., Zachi, E. C., Silva, I. M. W., Chan, A. J. S., Zarrei, M., Lourenço, N. C. V., et al. (2019) · Autism Research · doi:10.1002/aur.2238 · Cited by 44
Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment
Eyring, K. W., & Geschwind, D. H. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab176 · Cited by 46
Mondal, K., Ramachandran, D., Patel, V. C., Hagen, K. R., Bose, P., Cutler, D. J., & Zwick, M. E. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds267 · Cited by 46
Buizer‐Voskamp, J. E., Blauw, H. M., Boks, M. P., van Eijk, K. R., Veldink, J. H., Hennekam, E. A. M., Vorstman, J. A. S., Mulder, F., Tiemeier, H. W., Uitterlinden, A. G., et al. (2013) · Human Genetics · doi:10.1007/s00439-012-1261-4 · Cited by 44
Babbs, C., Lloyd, D., Pagnamenta, A. T., Twigg, S. R. F., Green, J., McGowan, S. J., Mirza, G. K., Naples, R., Sharma, V., Volpi, E. V., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102582 · Cited by 45
Kroon, T., Sierksma, M. C., & Meredith, R. M. (2013) · Frontiers in Systems Neuroscience · doi:10.3389/fnsys.2013.00075 · Cited by 45
Making sense of deep sequencing
Goldman, D. A., & Domschke, K. (2014) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145714000789 · Cited by 46
Krol, A., Henle, S. J., & Goodrich, L. (2016) · Development · doi:10.1242/dev.133678 · Cited by 38
The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder
Ziats, M. N., & Rennert, O. M. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00065 · Cited by 48
Kim, D. S., Burt, A., Ranchalis, J., Wilmot, B., Smith, J. D., Patterson, K., Coe, B. P., Li, Y. K., Bamshad, M. J., Nikolas, M. A., et al. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32527 · Cited by 45
Zhou, W., Zhang, J., Li, Z., Lin, X., Li, J., Wang, S., Yang, C., Wu, Q., Ye, A. Y., Wang, M., et al. (2019) · Human Mutation · doi:10.1002/humu.23724 · Cited by 44
Self-citationEndophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms
Greenwood, T. A., Shutes‐David, A., & Tsuang, D. W. (2019) · Journal of Psychiatry and Brain Science · doi:10.20900/jpbs.20190005 · Cited by 46
Rates of contributory de novo mutation in high and low-risk autism families
Yoon, S. C., Muñoz, A., Yamrom, B., Lee, Y.-H., Andrews, P., Marks, S., Wang, Z., Reeves, C., Winterkorn, L. H., Krieger, A. Μ., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02533-z · Cited by 44
Self-citationBanerjee, A., Luong, J. A., Ho, A., Saib, A., & Ploski, J. E. (2016) · Molecular Autism · doi:10.1186/s13229-016-0077-9 · Cited by 45
Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis
Tibshirani, M., Zhao, B., Gentil, B. J., Minotti, S., Marques, C., Keith, J., Rogaeva, E., Zinman, L., Rouaux, C., Robertson, J., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx301 · Cited by 42
Histone methylation during neural development
Roidl, D., & Hacker, C. (2014) · Cell and Tissue Research · doi:10.1007/s00441-014-1842-8 · Cited by 46
Soueid, J., Kourtian, S., Makhoul, N. J., Makoukji, J., El-Haddad, S., Ghanem, S. S., Kobeissy, F. H., & Boustany, R. (2016) · Scientific Reports · doi:10.1038/srep19088 · Cited by 44
Williams, M. R., Fricano-Kugler, C. J., Getz, S. A., Skelton, P. D., Lee, J., Rizzuto, C. P., Geller, J. S., Li, M., & Luikart, B. W. (2016) · Scientific Reports · doi:10.1038/srep25611 · Cited by 46
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies
Banks, G. T., Lassi, G., Hoerder‐Suabedissen, A., Tinarelli, F., Simon, M. M., Wilcox, A. J., Lau, P., Lawson, T. N., Johnson, S., Rutman, A., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.54 · Cited by 43
Cheon, S., Kaur, K. J., Nijem, N., Tuncay, İ. O., Kumar, P., Dean, M., Juusola, J., Sacoto, M. J. G., Bedoukian, E. C., Ierardi-Curto, L. A., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1818751116 · Cited by 42
Lossi, L., Castagna, C., Granato, A., & Merighi, A. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8122088 · Cited by 43
Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia
Frost, J., Frost, M. G., Batie, M., Jiang, H., & Rocha, S. (2021) · Cancers · doi:10.3390/cancers13020350 · Cited by 44
Hurley, S., Mohan, C., Suetterlin, P., Ellingford, R. A., Riegman, K. L. H., Ellegood, J., Caruso, A., Michetti, C., Brock, O., Evans, R., et al. (2021) · Molecular Autism · doi:10.1186/s13229-020-00409-3 · Cited by 42
Young, D. J., Meydan, S., & Guydosh, N. R. (2021) · Nature Communications · doi:10.1038/s41467-021-23223-8 · Cited by 42
Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
Kamphans, T., Sabri, P., Zhu, N., Heinrich, V., Mundlos, S., Robinson, P. N., Parkhomchuk, D., & Krawitz, P. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0070151 · Cited by 42
Bonnet-Brilhault, F., Alirol, S., Blanc, R., Bazaud, S., Marouillat, S., Thépault, R.-A., Andres, C. R., Lemonnier, É., Barthélémy, C., Raynaud, M., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.75 · Cited by 41
From De Novo Mutations to Personalized Therapeutic Interventions in Autism
Brandler, W. M., & Sebat, J. L. (2015) · Annual Review of Medicine · doi:10.1146/annurev-med-091113-024550 · Cited by 43
Reading and Language Disorders: The Importance of Both Quantity and Quality
Newbury, D. F., Monaco, A. P., & Paracchini, S. (2014) · Genes · doi:10.3390/genes5020285 · Cited by 43
A pilot proteomic study of protein markers in autism spectrum disorder
Wetie, A. G. N., Wormwood, K. L., Thome, J., Dudley, E., Taurines, R., Gerlach, M., Woods, A. G., & Darie, C. C. (2014) · Electrophoresis · doi:10.1002/elps.201300370 · Cited by 40
Sudarov, A., Gooden, F., Tseng, D., Gan, W., & Ross, M. E. (2013) · EMBO Molecular Medicine · doi:10.1002/emmm.201202106 · Cited by 42
BRG1 in the Nucleus Accumbens Regulates Cocaine-Seeking Behavior
Wang, Z.-J., Martin, J. A., Mueller, L. E., Caccamise, A. J., Werner, C. T., Neve, R. L., Gancarz, A. M., Li, J., & Dietz, D. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.04.020 · Cited by 41
HIPred: an integrative approach to predicting haploinsufficient genes
Shihab, H. A., Rogers, M. F., Campbell, C., & Gaunt, T. R. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx028 · Cited by 41
Oeri, H. E. (2020) · Journal of Psychopharmacology · doi:10.1177/0269881120920420 · Cited by 43
DeSpenza, T., Carlson, M., Panchagnula, S., Robert, S. M., Duy, P. Q., Mermin‐Bunnell, K., Reeves, B. C., Kundishora, A. J., Elsamadicy, A. A., Smith, H. L., et al. (2021) · Trends in Neurosciences · doi:10.1016/j.tins.2021.08.007 · Cited by 42
Reducing age of autism diagnosis: developmental social neuroscience meets public health challenge.
Klin, A., Klaiman, C., & Jones, W. (2015) · PubMed · Cited by 39
Copy number variation and autism: New insights and clinical implications
Chung, B. H., Tao, V. Q., & Tso, W. W. Y. (2013) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2013.01.005 · Cited by 42
The potential of biomarkers in psychiatry: focus on proteomics
Sokolowska, I., Wetie, A. G. N., Wormwood, K. L., Thome, J., Darie, C. C., & Woods, A. (2015) · Journal of neural transmission · doi:10.1007/s00702-013-1134-6 · Cited by 37
Regulation of the neuronal transcription factor NPAS4 by REST and microRNAs
Bersten, D. C., Wright, J. A., McCarthy, P., & Whitelaw, M. L. (2013) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2013.11.004 · Cited by 42
Haas, M., Ngo, L., Li, S., Schleich, S., Qu, Z., Vanyai, H. K., Cullen, H. D., Cardona‐Alberich, A., Gladwyn-Ng, I. E., Pagnamenta, A. T., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.04.090 · Cited by 38
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
Şener, E. F., Canatan, H., & Özkul, Y. (2016) · Psychiatry Investigation · doi:10.4306/pi.2016.13.3.255 · Cited by 42
Connolly, S., Anney, R., Gallagher, L., & Heron, E. A. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.153 · Cited by 41
Epigenetic Mistakes in Neurodevelopmental Disorders
Mastrototaro, G., Zaghi, M., & Sessa, A. (2017) · Journal of Molecular Neuroscience · doi:10.1007/s12031-017-0900-6 · Cited by 38
Potential Role of Microtubule Stabilizing Agents in Neurodevelopmental Disorders
Bonini, S. A., Mastinu, A., Ferrari‐Toninelli, G., & Memo, M. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18081627 · Cited by 41
STXBP1 as a therapeutic target for epileptic encephalopathy
Stamberger, H., Weckhuysen, S., & Jonghe, P. D. (2017) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2017.1386175 · Cited by 40
Stem Cell Proliferation Is Kept in Check by the Chromatin Regulators Kismet/CHD7/CHD8 and Trr/MLL3/4
Gervais, L., van den Beek, M., Josserand, M., Sallé, J., Stefanutti, M., Perdigoto, C. N., Skorski, P., Mazouni, K., Marshall, O. J., Brand, A. H., et al. (2019) · Developmental Cell · doi:10.1016/j.devcel.2019.04.033 · Cited by 41
Chromatin Remodeler CHD8 in Autism and Brain Development
Hoffmann, A., & Spengler, D. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10020366 · Cited by 41
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects
AlAbdi, L., Desbois, M., Rusnac, D.-V., Sulaiman, R. A., Rosenfeld, J. A., Lalani, S. R., Murdock, D. R., Burrage, L. C., Undiagnosed Diseases Network, Au, P. Y. B., et al. (2022) · Brain · doi:10.1093/brain/awac364 · Cited by 38
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
Khalil, R., Kenny, C., Hill, R. S., Mochida, G. H., Nasir, R., Partlow, J. N., Barry, B. J., Al‐Saffar, M., Egan, C., Stevens, C. R., et al. (2018) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32688 · Cited by 39
Self-citationModeling dopamine dysfunction in autism spectrum disorder: from invertebrates to vertebrates
DiCarlo, G. E., & Wallace, M. T. (2022) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.12.017 · Cited by 39
Genetic architecture of quantitative traits and complex diseases
Fu, W., O’Connor, T. D., & Akey, J. M. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.10.008 · Cited by 40
Brett, M., McPherson, J. R., Zang, Z. J., Lai, A., Tan, E. S., Ng, I., Ong, L.-C., Cham, B., Tan, P., Rozen, S., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0093409 · Cited by 43
Kong, S. W., Shimizu‐Motohashi, Y., Campbell, M. G., Lee, I., Collins, C. D., Brewster, S. J., Holm, I. A., Rappaport, L., Kohane, I. S., & Kunkel, L. M. (2013) · Neurogenetics · doi:10.1007/s10048-013-0363-z · Cited by 37
Yu, H., Geiger, E. A., Medne, L., Zackai, E. H., & Shaikh, T. H. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36379 · Cited by 39
Metadata
- Authors
- Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., Polak, P., Yoon, S., Maguire, J., Crawford, E. L., Campbell, N. G., Geller, E. T., Valladares, O., Schafer, C., Liu, H., Zhao, T., Cai, G., Lihm, J., Dannenfelser, R., Jabado, O., Peralta, Z., Nagaswamy, U., Muzny, D., Reid, J. G., Newsham, I., Wu, Y., Lewis, L., Han, Y., Voight, B. F., Lim, E., Rossin, E., Kirby, A., Flannick, J., Fromer, M., Shakir, K., Fennell, T., Garimella, K., Banks, E., Poplin, R., Gabriel, S., DePristo, M., Wimbish, J. R., Boone, B. E., Levy, S. E., Betancur, C., Sunyaev, S., Boerwinkle, E., Buxbaum, J. D., Cook Jr, E. H., Devlin, B., Gibbs, R. A., Roeder, K., Schellenberg, G. D., Sutcliffe, J. S., & Daly, M. J.
- Affiliations
- Harvard University (US)
- Icahn School of Medicine at Mount Sinai (US)
- Carnegie Mellon University (US)
- Broad Institute (US)
- Baylor College of Medicine (US)
- University of Pennsylvania (US)
- Vanderbilt University (US)
- Johns Hopkins University (US)
- HudsonAlpha Institute for Biotechnology (US)
- Centre National de la Recherche Scientifique (FR)
- University of Pittsburgh (US)
- Corresponding author
- Buxbaum, Joseph D.
- Roeder, Kathryn
- Daly, Mark J.
- ORCID
- Neale, Benjamin M.
- Liu, Li
- Ma’ayan, Avi
- Samocha, Kaitlin E.
- Sabo, Aniko
- Lin, Chiao-Feng
- Stevens, Christine
- Makarov, Vladimir
- Polak, Paz
- Geller, Evan T.
- Valladares, Otto
- Liu, Han
- Zhao, Tuo
- Lihm, Jayon
- Dannenfelser, Ruth
- Muzny, Donna
- Reid, Jeffrey G.
- Newsham, Irene
- Wu, Yuanqing
- Han, Yi
- Voight, Benjamin F.
- Lim, Elaine
- Rossin, Elizabeth
- Flannick, Jason
- Fromer, Menachem
- Fennell, Tim
- Garimella, Kiran
- Banks, Eric
- Gabriel, Stacey
- Levy, Shawn E.
- Betancur, Catalina
- Sunyaev, Shamil
- Boerwinkle, Eric
- Buxbaum, Joseph D.
- Devlin, Bernie
- Gibbs, Richard A.
- Roeder, Kathryn
- Schellenberg, Gerard D.
- Sutcliffe, James S.
- Daly, Mark J.
- Venue
- Nature
- Published
- 2012-04-04
- Volume
- 485
- Issue
- 7397
- Pages
- 242-245
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3613847
- OpenAlex
- W2024663595
- Semantic Scholar
- 7597cd398ad2874b3c231d70f97956fb53b1be57
- Cited by
- 1,734
- References
- 27
- Citations by year
- 2026: 32 · 2025: 44 · 2024: 56 · 2023: 56 · 2022: 75 · 2021: 99 · 2020: 110 · 2019: 121 · 2018: 125 · 2017: 144 · 2016: 158 · 2015: 180 · 2014: 245 · 2013: 194 · 2012: 92
- FWCI
- 116.56
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Vanderbilt University (UL1 RR024975)
- National Institutes of Health (MH057881, HD015052, HD055751, RR024975)
- Vanderbilt Kennedy Center, Vanderbilt University Medical Center
- National Institute of Mental Health (R01MH061009, R01MH089025, R01MH089175, R01MH089004, R01MH089208, R01MH057881, MH057881, R01MH089482, R01MH084676)
- National Human Genome Research Institute (U54HG003067, HG003273, U54HG003273)
- National Institute of General Medical Sciences (T32GM007753, P50GM071558)
- National Center for Research Resources (RR024975, KL2RR024977, TL1RR024978, UL1RR024975)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD015052, P50HD055751)
- 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
- autism spectrum disorder, genetic heterogeneity, locus heterogeneity, polygenic risk, parent-child trios, exome sequencing, protein-protein interaction network, SCN2A, CHD8, β-catenin signaling, p53 pathway, mutation rate, penetrance, copy number variation, genetic risk
- MeSH terms
- Autistic Disorder, DNA-Binding Proteins, Exons, Family Health, Humans, Models, Genetic, Mutation, Phenotype, Transcription Factors, Poisson Distribution, Case-Control Studies, Genetic Predisposition to Disease, Multifactorial Inheritance, Exome, Protein Interaction Maps
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