The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Synaptic, transcriptional and chromatin genes disrupted in autism
Open accessAbstract
The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways. These include voltage-gated ion channels regulating the propagation of action potentials, pacemaking and excitability-transcription coupling, as well as histone-modifying enzymes and chromatin remodellers-most prominently those that mediate post-translational lysine methylation/demethylation modifications of histones.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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 [47]
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
“In ASD, a single de novo more risk than the cumulative effect of the top decile of polygenic risk for schizophrenia 47,50”
From Autism spectrum disorder (2020) · cites this paper as [47]
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
“we observe a 2-fold enrichment of de novo PTVs in highly constrained genes in affected females (n = 1,097) versus affected males (n = 5,333) (p = 3 3 10 6”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as De Rubeis et al., 2014
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
“ASD affects 1-1.5% of individuals and is highly heritable, with both common and rare variants contributing to its etiology 1-4 .”
From Identification of common genetic risk variants for autism spectrum disorder (2019) · cites this paper as [1]
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
“By contrast, de novo mutations, mostly copy number variants (CNVs) and gene disrupting point mutations, have larger individual effects, but collectively explain <5% of the overall liability 1-3 and far less of the heritability.”
From Identification of common genetic risk variants for autism spectrum disorder (2019) · cites this paper as [1]
Experimental — accuracy not yet measured
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Many ASD risk genes associated with transcriptional regulation and chromatin remodelling are crucial for cortical development21,22.”
From Single-cell brain organoid screening identifies developmental defects in autism (2023) · 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
“where variants in the underlying genes are associated with epilepsy, autism, schizophrenia, or intellectual disability (De Rubeis et al., 2014; Russell et al., 2014; Sadybekov et al., 2017; Shoubridge et al., 2010; Yang et al., 2014”
From Changes in the Synaptic Proteome in Tauopathy and Rescue of Tau-Induced Synapse Loss by C1q Antibodies (2018) · cites this paper as De Rubeis et al., 2014
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Rare inherited and de novo variants are major contributors to individual risk for autism spectrum disorder (ASD)”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as De Rubeis et al., 2014
The cited source says what the claim attributes to it.
In the citing paper
“Notably, 12 of the genes DAWN previously predicted as plausibly contributing to risk (De Rubeis et al., 2014) were identified as new TADA genes here (enrichment p = 8.4 3 10 11 ; OR = 16.4).”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as De Rubeis et al., 2014
The cited source says what the claim attributes to it.
In the citing paper
“Past analyses have identified two major functional groups of ASD genes: those involved in gene expression regulation (GER), including chromatin regulators and transcription factors, and those involved in neuronal communication (NC), including synaptic function (De Rubeis et al., 2014).”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as De Rubeis et al., 2014
The cited source says what the claim attributes to it.
In the citing paper
“Past analyses have identified two major groups of ASD-associated genes: those involved in gene expression regulation (GER) and those involved in neuronal communication (NC) (De Rubeis et al., 2014; Sanders et al., 2015).”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as De Rubeis et al., 2014
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“De novo missense variants occur more frequently than de novo PTVs. Collectively, they show only marginal enrichment over the rate expected by chance”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as De Rubeis et al., 2014
Experimental — accuracy not yet measuredIn the citing paper
“Large scale genetic screenings have revealed that many of the identified top-ranking autism risk factors are genes implicated in synaptic homeostasis, transcriptional regulation and chromatin remodeling pathways 140–142.”
From Mechanisms of synaptic transmission dysregulation in the prefrontal cortex: pathophysiological implications (2022) · cites this paper as [141]
In the citing paper
“Another identified high-risk factor for autism is the Cullin 3 (Cul3) gene 141”
From Mechanisms of synaptic transmission dysregulation in the prefrontal cortex: pathophysiological implications (2022) · cites this paper as [141]
In the citing paper
“In humans, mutations in MAPK3 [92] and TAOK2 [93, 94] but not in KCTD13 [85, 95] have been found in ASD cases.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [85]
In the citing paper
“Missense variants in MAPK3 are identified in ASD probands [85, 92], but no loss of function (LoF) MAPK3 mutations have been reported in ASD, leaving the direct link to ASD uncertain.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [85]
In the citing paper
“LoF variants in TAOK2 are identified in ASD probands [93, 94], however it is not a top-ranking ASD risk factor by large genetic screening [85].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [85]
In the citing paper
“This hypothesis is supported by previous studies showing that females with ASD have a greater burden of rare CNVs1,11,12 and gene mutations13,14.”
From A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex (2022) · cites this paper as [14]
In the citing paper
“We also demonstrated that the genetic architecture in this self-reported cohort is similar to published, clinically confirmed ASD cohorts.3,4,7”
From Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) · cites this paper as [7]
In the citing paper
“in ASC case-control samples,7 LGD variants in ITSN1 were also identified in the controls (three in 5397 ASC controls and comparable with the cumulative AF of 2.5e−4 in gnomAD v2.1), although they were still overrepresented in cases (two in 1601 cases).”
From Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) · cites this paper as [7]
In the citing paper
“individuals with ASD have a two- to three-fold increase in the number of rare copy number variations (CNVs) and de novo loss-of-function (nonsense, frameshift, and splice site) variants compared to their unaffected siblings11–14.”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [11]
In the citing paper
“Finally, exome sequencing of simplex libraries has repeatedly pointed to CACNA1D, the pore-forming subunit of another L-type channel, as another ASD-associated gene (De Rubeis et al., 2014).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as De Rubeis et al., 2014
In the citing paper
“Changes in the levels of DNA methylation, histone modifications and changes in non-coding RNA (ncRNA) function are common in disease, as are mutations in epigenetic components 57,125 .”
From Advances in epigenetics link genetics to the environment and disease (2019) · cites this paper as [125]
In the citing paper
“The application of this approach to exomes or whole genomes in large family samples has since become the most effective strategy for identifying ASD susceptibility genes (De Rubeis et al., 2014; Iossifov et al., 2014; Sanders et al., 2015; Satterstrom et al., 2018).”
From Getting to the cores of autism (2019) · cites this paper as De Rubeis et al., 2014
In the citing paper
“However, for the majority of large CNVs, studies have not found evidence for the existence of a single driver gene (De Rubeis et al., 2014; Iossifov et al., 2014).”
From Getting to the cores of autism (2019) · cites this paper as De Rubeis et al., 2014
In the citing paper
“There are 39 such targets (10,18), and we previously estimated that ∼90% of these targets are true causal targets.”
From Low load for disruptive mutations in autism genes and their biased transmission (2015) · cites this paper as [18]
In the citing paper
“Here, we found widespread enrichments across central nervous system neurons with limited to no signal in glial cells and peripheral nervous system neurons (Table S10, Figure S17).”
From Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) · cites this paper as [34]
In the citing paper
“These findings are consistent with a model whereby inherited variation, both common (11) and rare (26,28), defines a substrate of susceptibility, and additional high-risk genetic (including de novo, recessive and X-linked variation) and/or non-genetic factors then act on this substrate to surpass the liability threshold that results in ASD (Fig. 1).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [26]
In the citing paper
“Transmitted variants that disrupt protein function can also have a strong influence on risk when inherited and acting dominantly (odds ratios ∼3) (26) or if resulting in biallelic disruption and acting in a recessive (34,35) or X-linked (34) manner (odds ratio above 2).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [26]
In the citing paper
“Rare variants can be inherited from unaffected parents (26,28,34,35) or arise as de novo mutations during the meiotic divisions of gametogenesis (21)(22)(23)(24)(25)(26)(27)(30)(31)(32)36,37).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [26]
In the citing paper
“Autosomal de novo loss-of-function SNV has been identified that acts in a dominant manner and carries a large burden for individual risk, with odds ratios of 20 or above for genes identified to date (24,26).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [26]
In the citing paper
“ANK2 has been consistently associated with ASD (22,26,80) and also with cardiac arrhythmia (OMIM no.600919) (78).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [26]
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 [26]
In the citing paper
“In fact, recent discoveries indicate shared genes and pathways between ASD and congenital heart disease (CHD) (26,93,94).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [26]
In the citing paper
“such rare high-confidence mutations tend to be significantly enriched in genes involved in synaptic functions, transcriptional regulation, and chromatin remodeling functions, and/or are downstream targets of the fragile X syndrome protein (FMRP) complex.1, 3”
From Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder (2018) · cites this paper as [1]
In the citing paper
“We recently demonstrated that genes frequently found mutated in ASD1 may regulate the downstream expression of genes directly relevant to brain size as well as other regulatory genes with cell cycle functions, particularly those involved in the regulation of the G1–S phase transition.67”
From Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder (2018) · cites this paper as [1]
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 [83]
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 [83]
In the citing paper
“RBFOX targets are also frequently dysregulated in autism, highlighting the critical role of alternative splicing in brain development and function (De Rubeis et al., 2014; Voineagu et al., 2011; Weyn-Vanhentenryck et al., 2014).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as De Rubeis et al., 2014
In the citing paper
“Alterations in other genes implicated in E/T coupling have been observed before in ASD individuals and include Ca2+ signaling components such as the voltage-dependent channels Cav1.2 (CACNA1C), Cav1.3 (CACNA1D) and the α-δ auxiliary subunit of L-type voltage-gated Ca2+ channels (CACNA2D3) [102, 103].”
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
A 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
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 11,457
Self-citationStrong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Self-citationSporadic 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-citationFMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072
Functional 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×
“Three critical pathways for typical development are damaged by risk variation: (1) chromatin remodeling, (2) transcription and splicing, and, (3) synaptic function.”
Self-citationTranscriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874
Patterns and rates of exonic de novo mutations in autism spectrum disorders
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., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734
Self-citationDe novo mutations in schizophrenia implicate synaptic networks
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature · doi:10.1038/nature12929 · Cited by 1,617
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Items 401–500 of 1,020
A Chromatin Accessibility Atlas of the Developing Human Telencephalon
Markenscoff-Papadimitriou, E., Whalen, S., Przytycki, P. F., Thomas, R., Binyameen, F., Nowakowski, T. J., Kriegstein, A. R., Sanders, S., State, M. W., Pollard, K. S., et al. (2020) · Cell · doi:10.1016/j.cell.2020.06.002 · Cited by 91
Self-citationModafferi, S., Zhong, X., Kleensang, A., Murata, Y., Fagiani, F., Pamies, D., Högberg, H. T., Calabrese, V., Lachman, H. M., Härtung, T., et al. (2021) · Environmental Health Perspectives · doi:10.1289/ehp8580 · Cited by 91
Fyn Tyrosine Kinase as Harmonizing Factor in Neuronal Functions and Dysfunctions
Matrone, C., Petrillo, F., Nasso, R., & Ferretti, G. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21124444 · Cited by 87
Mordaunt, C. E., Jianu, J. M., Laufer, B. I., Zhu, Y., Hwang, H., Dunaway, K. W., Bakulski, K. M., Feinberg, J. I., Volk, H. E., Lyall, K., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00785-8 · Cited by 90
Bayesian estimation of cell type–specific gene expression with prior derived from single-cell dataPreprint
Wang, J., Roeder, K., & Devlin, B. (2021) · Genome Research · doi:10.1101/gr.268722.120 · Cited by 89
Self-citationGoes, F. S. (2016) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2015.10.004 · Cited by 87
Cederquist, G., Tchieu, J. H., Callahan, S. J., Ramnarine, K., Ryan, S. D., Zhang, C., Rittenhouse, C. A., Zeltner, N., Chung, S. Y., Zhou, T., et al. (2020) · Cell stem cell · doi:10.1016/j.stem.2020.06.004 · Cited by 89
Harris, H. K., Nakayama, T., Lai, J. F., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01114-z · Cited by 87
Self-citationCochoy, D. M., Kolevzon, A. L., Kajiwara, Y., Schoen, M., Pascual‐Lucas, M., Lurie, S., Buxbaum, J. D., Boeckers, T. M., & Schmeißer, M. J. (2015) · Molecular Autism · doi:10.1186/s13229-015-0020-5 · Cited by 89
Self-citationNguyen, H. T., Bryois, J., Kim, A., Dobbyn, A. L., Huckins, L. M., Muñoz‐Manchado, A. B., Ruderfer, D. M., Genovese, G., Fromer, M., Xu, X., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0497-y · Cited by 87
Self-citationFirst glimpses of the neurobiology of autism spectrum disorder
Sanders, S. J. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.10.002 · Cited by 84
Self-citationUnderstanding autism spectrum disorders with animal models: applications, insights, and perspectives
Zhu, L., 昆明650500，中国, 云., Zhu, Y., Gu, L., & Cheng, Y. (2021) · 动物学研究 · doi:10.24272/j.issn.2095-8137.2021.251 · Cited by 91
Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
Caracci, M. O., Ávila, M. E., Espinoza-Cavieres, F. A., López, H. R., Ugarte, G. D., & Ferrari, G. V. D. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.764756 · Cited by 86
Shashi, V., Pena, L. D. M., Kim, K. K., Burton, B. K., Hempel, M., Schoch, K., Walkiewicz, M. A., McLaughlin, H. M., Cho, M., Stong, N., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.08.017 · Cited by 84
Self-citationSynaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS
Ross, P. J., Zhang, W., Mok, R. S. F., Zaslavsky, K., Deneault, É., D’Abate, L., Rodrigues, D. C., Yuen, R. K. C., Faheem, M., Mufteev, M., et al. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.07.014 · Cited by 92
Self-citationGuan, J., Cai, J. J., Ji, G., & Sham, P. C. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0488-4 · Cited by 86
Self-citationWarrier, V., & Baron‐Cohen, S. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0550-x · Cited by 89
Broad domains of histone H3 lysine 4 trimethylation in transcriptional regulation and disease
Park, S., Kim, G. W., Kwon, S. H., & Lee, J. (2020) · FEBS Journal · doi:10.1111/febs.15219 · Cited by 88
Ka, M., Chopra, D. A., Dravid, S. M., & Kim, W.-Y. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2321-15.2016 · Cited by 84
Both rare and common genetic variants contribute to autism in the Faroe Islands
Leblond, C. S., Cliquet, F., Carton-Buonafine, C., Huguet, G., Mathieu, A., Kergrohen, T., Buratti, J., Lemière, N., Cuisset, L., Bienvenu, T., et al. (2019) · npj Genomic Medicine · doi:10.1038/s41525-018-0075-2 · Cited by 86
Wang, Z.-J., Zhong, P., Ma, K., Seo, J.-S., Yang, F., Hu, Z., Zhang, F., Lin, L., Wang, J., Liu, T., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-019-0351-2 · Cited by 82
Gregorio, E. D., Riberi, E., Belligni, E. F., Biamino, E., Spielmann, M., Ala, U., Calcia, A., Bagnasco, I., Carli, D., Gai, G., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13009 · Cited by 83
Self-citationChromatin Remodeling Complex NuRD in Neurodevelopment and Neurodevelopmental Disorders
Hoffmann, A., & Spengler, D. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00682 · Cited by 92
The Role of PTEN in Neurodevelopment
Skelton, P. D., Stan, R. V., & Luikart, B. W. (2019) · Complex Psychiatry · doi:10.1159/000504782 · Cited by 82
DNA methylation and brain structure and function across the life course: A systematic review
Wheater, E., Stoye, D. Q., Cox, S. R., Wardlaw, J. M., Drake, A. J., Bastin, M. E., & Boardman, J. P. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.03.007 · Cited by 85
The neuroligins and the synaptic pathway in Autism Spectrum Disorder
Trobiani, L., Meringolo, M., Diamanti, T., Bourne, Y., Marchot, P., Martella, G., Dini, L., Pisani, A., Jaco, A. D., & Bonsi, P. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.09.017 · Cited by 86
Complement and microglia dependent synapse elimination in brain development
Soteros, B. M., & Sia, G.-M. (2021) · WIREs Mechanisms of Disease · doi:10.1002/wsbm.1545 · Cited by 88
A multi-scale map of cell structure fusing protein images and interactions
Qin, Y., Huttlin, E. L., Winsnes, C. F., Gosztyla, M. L., Wacheul, L., Kelly, M. R., Blue, S. M., Zheng, F., Chen, M., Schaffer, L. V., et al. (2021) · Nature · doi:10.1038/s41586-021-04115-9 · Cited by 82
Mendes, H. W., Neelakantan, U., Liu, Y., Fitzpatrick, S. E., Chen, T., Wu, W., Pruitt, A., Jin, D. S., Jamadagni, P., Carlson, M., et al. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112243 · Cited by 82
Ishizuka, K., Fujita, Y., Kawabata, T., Kimura, H., Iwayama, Y., Inada, T., Okahisa, Y., Egawa, J., Usami, M., Kushima, I., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.173 · Cited by 87
Self-citationDai, Y., Zhang, H., Schön, M., Böckers, T. M., Han, S., Han, J., & Zhang, R. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00355 · Cited by 84
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
Lumish, H. S., Wynn, J., Devinsky, O., & Chung, W. K. (2015) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-015-2484-8 · Cited by 82
Reim, D., Distler, U., Halbedl, S., Verpelli, C., Sala, C., Bockmann, J., Tenzer, S., Boeckers, T. M., & Schmeißer, M. J. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00026 · Cited by 86
Invited Review: Epigenetics in neurodevelopment
Salinas, R. D., Connolly, D. R., & Song, H. (2020) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12608 · Cited by 90
Cav1.3 (CACNA1D) L‐type Ca2+ channel dysfunction in CNS disorders
Pinggera, A., & Striessnig, J. (2016) · The Journal of Physiology · doi:10.1113/jp270672 · Cited by 81
Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv499 · Cited by 85
Berto, S., Usui, N., Konopka, G., & Fogel, B. L. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw110 · Cited by 80
Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies
Choi, L., & An, J. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.06.028 · Cited by 81
Harony‐Nicolas, H., Rubeis, S. D., Kolevzon, A. L., & Buxbaum, J. D. (2015) · Journal of Child Neurology · doi:10.1177/0883073815600872 · Cited by 83
Self-citationPorter, R. S., Jaamour, F., & Iwase, S. (2017) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2017.10.006 · Cited by 82
Pagel, K. A., Antaki, D., Lian, A., Mort, M. E., Cooper, D. N., Sebat, J. L., Iakoucheva, L. M., Mooney, S. D., & Predrag Radivojac, A. (2019) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1007112 · Cited by 82
Mattheisen, M., Grove, J., Als, T. D., Martin, J., Voloudakis, G., Meier, S. M., Demontis, D., Bendl, J. M., Walters, R. K., Carey, C. E., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01171-3 · Cited by 80
Self-citationEpigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder
LaSalle, J. M. (2023) · Molecular Psychiatry · doi:10.1038/s41380-022-01917-9 · Cited by 83
Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons
Habela, C. W., Song, H., & Ming, G. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.12.002 · Cited by 80
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Guella, I., McKenzie, M. B., Evans, D. M., Buerki, S. E., Toyota, E. B., Allen, M. I. V., Suri, M., Elmslie, F., Simon, M., van Gassen, K. L. I., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.07.004 · Cited by 79
Cheng, H., Dharmadhikari, A. V., Varland, S., Ma, N., Domingo, D., Kleyner, R. S., Rope, A. F., Yoon, M. S., Stray‐Pedersen, A., Posey, J. E., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.004 · Cited by 80
Genomics in neurodevelopmental disorders: an avenue to personalized medicine
Tărlungeanu, D. C., & Novarino, G. (2018) · Experimental & Molecular Medicine · doi:10.1038/s12276-018-0129-7 · Cited by 86
Shin, W., Kweon, H., Kang, R., Kim, D., Kim, K., Kang, M., Kim, S. Y., Hwang, S. N., Kim, J. Y., Yang, E., et al. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00145 · Cited by 83
Sensory over-responsivity is related to GABAergic inhibition in thalamocortical circuits
Wood, E. T., Cummings, K. K., Jung, J., Patterson, G., Okada, N. J., Guo, J., O’Neill, J., Dapretto, M., Bookheimer, S. Y., & Green, S. A. (2021) · Translational Psychiatry · doi:10.1038/s41398-020-01154-0 · Cited by 84
Electroencephalography in Assessment of Autism Spectrum Disorders: A Review
Milovanović, M., & Grujičić, R. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.686021 · Cited by 84
Pleiotropic Mechanisms Indicated for Sex Differences in Autism
Mitra, I., Tsang, K. M., Ladd‐Acosta, C., Croen, L., Aldinger, K. A., Hendren, R. L., Traglia, M., Lavillaureix, A., Zaitlen, N., Oldham, M. C., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006425 · Cited by 82
Self-citationAssociation Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders
Chalkia, D., Singh, L. N., Leipzig, J. N., Lvova, M., Derbeneva, O. A., Lakatos, A., Hadley, D., Hakonarson, H. H., & Wallace, D. C. (2017) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2017.2604 · Cited by 78
Parellada, M., Llorente, C., Calvo, R., Gutierrez, S., Lázaro, L., Graell, M., Guisasola, M., Dorado, M. L., Boada, L., Romo, J., et al. (2017) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2017.08.426 · Cited by 77
Self-citationSiu, M., Butcher, D. T., Turinsky, A. L., Cytrynbaum, C. S., Stavropoulos, D. J., Walker, S., Caluseriu, O., Carter, M., Lou, Y., Nicolson, R., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0684-3 · Cited by 82
Self-citationGenome-wide analysis of differential RNA editing in epilepsyPreprint
Srivastava, P. K., Bagnati, M., Delahaye‐Duriez, A., Ko, J., Rotival, M., Langley, S. R., Shkura, K., Mazzuferi, M., Danis, B., van Eyll, J. M., et al. (2017) · Genome Research · doi:10.1101/gr.210740.116 · Cited by 79
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
Brand, H., Collins, R. L., Hanscom, C., Rosenfeld, J. A., Pillalamarri, V., Stone, M. R., Kelley, F., Mason, T., Margolin, L., Eggert, S., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.05.012 · Cited by 76
Self-citationGriesi‐Oliveira, K., Fogo, M. S., Pinto, B. G. G., Alves, A. Y., Suzuki, Â. M., Morales, A. G., Ezquina, S., Sosa, J., Sutton, G. J., Sunaga, D. Y., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0669-9 · Cited by 80
Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics
Nguyen, T., Lehr, A. W., & Roche, K. W. (2020) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2020.00033 · Cited by 79
Lalli, M. A., Jang, J., Park, J.-H. C., Wang, Y., Guzman, E., Zhou, H., Audouard, M., Bridges, D. C., Tovar, K. R., Papuc, S. M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw010 · Cited by 79
Vahdatpour, C., Dyer, A. H., & Tropea, D. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00450 · Cited by 77
Dang, T., Duan, W. Y., Yu, B., Tong, D. L., Cheng, C., Zhang, Y. F., Wu, W., Ye, K., Zhang, W. X., Wu, M., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.253 · Cited by 80
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory
Kim, Y. J., Khoshkhoo, S., Frankowski, J. C., Zhu, B., Abbasi, S., Lee, S., Wu, Y. E., & Hunt, R. F. (2018) · Neuron · doi:10.1016/j.neuron.2018.09.049 · Cited by 81
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
Durán, D., Zeng, X. Q., Jin, S. C., Choi, J., Nelson-Williams, C. J., Yatsula, B. A., Gaillard, J. R., Furey, C. G., Lu, Q., Timberlake, A. T., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.11.041 · Cited by 78
Recent Advances in the Genetics of Autism Spectrum Disorder
Rubeis, S. D., & Buxbaum, J. D. (2015) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0553-1 · Cited by 77
Self-citationKummeling, J., Stremmelaar, D. E., Raun, N., Reijnders, M. R. F., Willemsen, M. H., Ruiterkamp‐Versteeg, M., Schepens, M. T., Man, C., Gilissen, C., Cho, M. T., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0725-5 · Cited by 79
Gąssowska-Dobrowolska, M., Cieślik, M., Czapski, G. A., Jęśko, H. M., Frontczak‐Baniewicz, M., Gewartowska, M., Dominiak, A., Polowy, R., Filipkowski, R. K., Babiec, L., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103576 · Cited by 78
Rea, V., & Raay, T. J. V. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.575575 · Cited by 77
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
Valencia, A. M., Sankar, A., van der Sluijs, P. J., Satterstrom, F. K., Fu, J. M., Talkowski, M. E., Vergano, S. A. S., Santen, G. W. E., & Kadoch, C. (2023) · Nature Genetics · doi:10.1038/s41588-023-01451-6 · Cited by 81
CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex
Shen, T., Ji, F., Yuan, Z., & Jiao, J. (2015) · Stem Cells · doi:10.1002/stem.2001 · Cited by 78
Rapanelli, M., Tan, T., Wang, W., Wang, X., Wang, Z.-J., Zhong, P., Frick, L., Qin, L., Ma, K., Qu, J., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-019-0498-x · Cited by 74
Beversdorf, D. Q., & MISSOURI AUTISM SUMMIT CONSORTIUM* (2016) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0000000000000351 · Cited by 74
Cartier, E., Hamilton, P. J., Belovich, A. N., Shekar, A., Campbell, N. G., Saunders, C., Andreassen, T. F., Gether, U., Veenstra-Vanderweele, J., Sutcliffe, J. S., et al. (2015) · EBioMedicine · doi:10.1016/j.ebiom.2015.01.007 · Cited by 74
Self-citationTBR1 regulates autism risk genes in the developing neocortex
Notwell, J. H., Heavner, W. E., Darbandi, S. F., Katzman, S., McKenna, W. L., Ortiz-Londono, C. F., Tastad, D., Eckler, M. J., Rubenstein, J. L. R., McConnell, S. K., et al. (2016) · Genome Research · doi:10.1101/gr.203612.115 · Cited by 74
Synaptic Wnt/GSK3βSignaling Hub in Autism
Caracci, M. O., Ávila, M. E., & Ferrari, G. V. D. (2016) · Neural Plasticity · doi:10.1155/2016/9603751 · Cited by 78
Brain Transcriptome Databases: A User's Guide
Keil, J. M., Qalieh, A., & Kwan, K. Y. (2018) · Journal of Neuroscience · doi:10.1523/jneurosci.1930-17.2018 · Cited by 79
Liu, Z., Mao, X., Zhou, D., Pei, Y., Xu, R., Guo, M., Liu, K., Zhang, F., Chen, J., Su, C., et al. (2021) · Gut Microbes · doi:10.1080/19490976.2020.1854967 · Cited by 77
Tylee, D. S., Hess, J., Quinn, T. P., Barve, R., Huang, H., Zhang‐James, Y., Chang, J., Stamova, B. S., Sharp, F. R., Hertz‐Picciotto, I., et al. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32511 · Cited by 74
The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders
Ang, C. E., Ma, Q., Wapinski, O. L., Fan, S., Flynn, R. A., Lee, Q. Y., Coe, B. P., Onoguchi, M., Olmos, V. H., Do, B. T., et al. (2019) · eLife · doi:10.7554/elife.41770 · Cited by 76
Self-citationCieślik, M., Gąssowska-Dobrowolska, M., Jęśko, H. M., Czapski, G. A., Wilkaniec, A., Zawadzka, A., Dominiak, A., Polowy, R., Filipkowski, R. K., Boguszewski, P. M., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21114097 · Cited by 77
Butler, M. G., Rafi, S. K., & Manzardo, A. M. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16036464 · Cited by 78
Dou, Y., Yang, X., Li, Z., Wang, S., Zhang, Z., Ye, A. Y., Yan, L., Yang, C., Wu, Q., Li, J., et al. (2017) · Human Mutation · doi:10.1002/humu.23255 · Cited by 75
Manning, B. J., & Yusufzai, T. M. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.779470 · Cited by 75
Guo, D., Yang, X., & Shi, L. (2020) · Cells · doi:10.3390/cells9040835 · Cited by 73
WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation
Kulkarni, S. S., Griffin, J. N., Date, P., Liem, K. F., & Khokha, M. K. (2018) · Developmental Cell · doi:10.1016/j.devcel.2018.08.009 · Cited by 74
Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes
Markenscoff-Papadimitriou, E., Binyameen, F., Whalen, S., Price, J., Lim, K. J., Ypsilanti, A. R., Catta-Preta, R., Pai, E. L.-L., Mu, X. N., Xu, D., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.110089 · Cited by 76
Self-citationArid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice
Shibutani, M., Horii, T., Shoji, H., Morita, S., Kimura, M., Terawaki, N., Miyakawa, T., & Hatada, I. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18091872 · Cited by 72
Mutations in ASH1L confer susceptibility to Tourette syndrome
Liu, S., Tian, M., He, F., Li, J., Xie, H. B., Liu, W., Zhang, Y., Zhang, R., Yi, M., Che, F., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0560-8 · Cited by 73
Mutations in HECW2 are associated with intellectual disability and epilepsy
Halvardson, J., Zhao, J. J., Zaghlool, A., Wentzel, C., Georgii-Hemming, P., Månsson, E., Ederth Sävmarker, H., Brandberg, G., Soussi Zander, C., Thuresson, A.-C., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103814 · Cited by 71
Ma, K., Qin, L., Matas, E., Duffney, L. J., Liu, A., & Yan, Z. (2018) · Neuropsychopharmacology · doi:10.1038/s41386-018-0073-1 · Cited by 71
Perenthaler, E., Yousefi, S., Niggl, E., & Barakat, T. S. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00352 · Cited by 75
SYNGAP1 mutations: Clinical, genetic, and pathophysiological features
Agarwal, M., Johnston, M. V., & Stafstrom, C. E. (2019) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2019.08.003 · Cited by 79
Epigenetics of Autism Spectrum Disorder: Histone Deacetylases
Tseng, C.-E. J., McDougle, C. J., Hooker, J. M., & Zürcher, N. R. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.11.021 · Cited by 72
Characterizing autism spectrum disorders by key biochemical pathways
Subramanian, M. P., Timmerman, C., Schwartz, J. L., Pham, D. L., & Meffert, M. K. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00313 · Cited by 71
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
Guo, H., Peng, Y., Hu, Z., Li, Y., Xun, G., Ou, J., Sun, L., Xiong, Z., Liu, Y., Wang, T., et al. (2017) · Scientific Reports · doi:10.1038/srep44155 · Cited by 71
Yi, J. J., Paranjape, S. R., Walker, M. P., Choudhury, R., Wolter, J. M., Fragola, G., Emanuele, M. J., Major, M. B., & Zylka, M. J. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.788448 · Cited by 73
Dunleavy, J. E. M., Okuda, H., O’Connor, A. E., Merriner, D. J., O’Donnell, L., Jamsai, D., Bergmann, M., & O’Bryan, M. K. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1007078 · Cited by 71
Tbr1 instructs laminar patterning of retinal ganglion cell dendrites
Liu, J., Reggiani, J. D. S., Laboulaye, M. A., Pandey, S., Chen, B., Rubenstein, J. L. R., Krishnaswamy, A., & Sanes, J. R. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0127-z · Cited by 71
Chen, S., Fragoza, R., Klei, L., Liu, Y., Wang, J., Roeder, K., Devlin, B., & Yu, H. (2018) · Nature Genetics · doi:10.1038/s41588-018-0130-z · Cited by 75
Self-citationUBE3A: An E3 Ubiquitin Ligase With Genome-Wide Impact in Neurodevelopmental Disease
Lopez, S. J., Segal, D. J., & LaSalle, J. M. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00476 · Cited by 76
Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice
Xing, X., Zhang, J., Wu, K., Cao, B., Li, X., Jiang, F., Hu, Z., Xia, K., & Li, J. (2019) · Scientific Reports · doi:10.1038/s41598-019-39434-5 · Cited by 77
Metadata
- Authors
- Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., Kou, Y., Liu, L., Fromer, M., Walker, S., Singh, T., Klei, L., Kosmicki, J., Fu, S.-C., Aleksic, B., Biscaldi, M., Bolton, P. F., Brownfeld, J. M., Cai, J., Campbell, N. G., Carracedo, A., Chahrour, M. H., Chiocchetti, A. G., Coon, H., Crawford, E. L., Crooks, L., Curran, S. R., Dawson, G., Duketis, E., Fernandez, B. A., Gallagher, L., Geller, E., Guter, S. J., Sean Hill, R., Ionita-Laza, I., Jimenez Gonzalez, P., Kilpinen, H., Klauck, S. M., Kolevzon, A., Lee, I., Lei, J., Lehtimäki, T., Lin, C.-F., Ma’ayan, A., Marshall, C. R., McInnes, A. L., Neale, B., Owen, M. J., Ozaki, N., Parellada, M., Parr, J. R., Purcell, S., Puura, K., Rajagopalan, D., Rehnström, K., Reichenberg, A., Sabo, A., Sachse, M., Sanders, S. J., Schafer, C., Schulte-Rüther, M., Skuse, D., Stevens, C., Szatmari, P., Tammimies, K., Valladares, O., Voran, A., Wang, L.-S., Weiss, L. A., Jeremy Willsey, A., Yu, T. W., Yuen, R. K. C., Cook, E. H., Freitag, C. M., Gill, M., Hultman, C. M., Lehner, T., Palotie, A., Schellenberg, G. D., Sklar, P., State, M. W., Sutcliffe, J. S., Walsh, C. A., Scherer, S. W., Zwick, M. E., Barrett, J. C., Cutler, D. J., Roeder, K., Devlin, B., Daly, M. J., & Buxbaum, J. D.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- Carnegie Mellon University (US)
- Massachusetts General Hospital (US)
- Hospital for Sick Children (CA)
- Wellcome Sanger Institute (GB)
- University of Pittsburgh (US)
- University of Freiburg (DE)
- King's College London (GB)
- Vanderbilt University (US)
- Universidade de Santiago de Compostela (ES)
- Harvard University (US)
- Boston Children's Hospital (US)
- Goethe University Frankfurt (DE)
- University of Utah (US)
- Duke University (US)
- Memorial University of Newfoundland (CA)
- Trinity College Dublin (IE)
- University of Illinois Chicago (US)
- European Bioinformatics Institute (GB)
- German Cancer Research Center (DE)
- Fimlab (Finland) (FI)
- Kaiser Permanente (US)
- Broad Institute (US)
- Universidad Complutense de Madrid (ES)
- Nagoya University (JP)
- Tampere University Hospital (FI)
- Baylor College of Medicine (US)
- University of California, San Francisco (US)
- University College London (GB)
- National Health Service (GB)
- University of Pennsylvania (US)
- National Institutes of Health (US)
- University of Toronto (CA)
- Emory University (US)
- Corresponding author
- Daly, Mark J.
- Buxbaum, Joseph D.
- ORCID
- He, Xin
- Goldberg, Arthur P.
- Samocha, Kaitlin
- Kou, Yan
- Liu, Li
- Fromer, Menachem
- Singh, Tarjinder
- Klei, Lambertus
- Kosmicki, Jack
- Fu, Shih-Chen
- Bolton, Patrick F.
- Chahrour, Maria H.
- Chiocchetti, Andreas G.
- Coon, Hilary
- Crooks, Lucy
- Curran, Sarah R.
- Fernandez, Bridget A.
- Gallagher, Louise
- Geller, Evan
- Guter, Stephen J.
- Kilpinen, Helena
- Kolevzon, Alexander
- Lee, Irene
- Lei, Jing
- Lehtimäki, Terho
- Lin, Chiao-Feng
- Ma’ayan, Avi
- Marshall, Christian R.
- Neale, Benjamin
- Owen, Michael J.
- Ozaki, Norio
- Parellada, Mara
- Parr, Jeremy R.
- Purcell, Shaun
- Puura, Kaija
- Reichenberg, Abraham
- Sabo, Aniko
- Sanders, Stephan J.
- Skuse, David
- Stevens, Christine
- Tammimies, Kristiina
- Valladares, Otto
- Wang, Li-San
- Weiss, Lauren A.
- Yu, Timothy W.
- Yuen, Ryan K. C.
- Cook, Edwin H.
- Freitag, Christine M.
- Gill, Michael
- Hultman, Christina M.
- Lehner, Thomas
- Palotie, Aarno
- Schellenberg, Gerard D.
- Sklar, Pamela
- State, Matthew W.
- Sutcliffe, James S.
- Walsh, Christopher A.
- Scherer, Stephen W.
- Zwick, Michael E.
- Barrett, Jeffrey C.
- Cutler, David J.
- Roeder, Kathryn
- Devlin, Bernie
- Daly, Mark J.
- Buxbaum, Joseph D.
- Venue
- Nature
- Published
- 2014-10-29
- Volume
- 515
- Issue
- 7526
- Pages
- 209-215
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4402723
- OpenAlex
- W2108994842
- Cited by
- 2,746
- References
- 47
- Citations by year
- 2026: 151 · 2025: 198 · 2024: 224 · 2023: 215 · 2022: 234 · 2021: 273 · 2020: 290 · 2019: 258 · 2018: 213 · 2017: 264 · 2016: 229 · 2015: 183 · 2014: 10
- FWCI
- 127.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UNSWorks (University of New South Wales, Sydney, Australia) (submittedVersion, cc-by-nc-nd)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- UNSWorks (UNSW Sydney) (submittedVersion, cc-by-nc-nd)
- RePEc: Research Papers in Economics (submittedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- RWTH Publications (RWTH Aachen) (submittedVersion)
- RUNA. Repositorio Institucional del Sergas (Servicio Gallego de Salud (SERGAS)) (submittedVersion, other-oa)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Howard Hughes Medical Institute
- Autism Speaks
- Wellcome Trust (091986, WT 098051, WT091310)
- Health Research Board
- Vanderbilt University Medical Center (UL1TR000445, HD15052)
- Broad Institute
- National Institute for Health and Care Research (NF-SI-0510-10268, HICF-1009-003, PI13/01136, WT098051)
- Meath Foundation
- National Institutes of Health (5rc2mh089952-02, PI13/01136, UL1TR000445, MH057881, HG003067, HD-15052, HD055751, RR024975)
- Medical Research Council (MR/L010305/1)
- National Institute of Mental Health (U01MH100209, R01MH061009, R01MH083565, R01MH077139, U01MH100229, R01MH097849, MH095034, RC2-MH089952, R01MH094400, R37MH057881, R01MH089208, U01MH100239, MH089482, MH057881, R01MH095034, R01MH089482, MH077139, MH061009, R01MH095797, U01MH100233)
- National Human Genome Research Institute (U54HG003067, T32HG002295)
- National Institute of Neurological Disorders and Stroke (R01NS073601)
- National Center for Research Resources (UL1RR024975)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD015052, P50HD055751, P30 HD-15052)
- 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, rare coding variants, synaptic genes, transcriptional regulation, chromatin remodeling, histone lysine methylation, voltage-gated ion channels, evolutionary constraints, autism risk genes, exome sequencing, missense mutations, copy number variation, histone-modifying enzymes
- MeSH terms
- Amino Acid Sequence, Child Development Disorders, Pervasive, Chromatin, Female, Humans, Male, Molecular Sequence Data, Mutation, Nerve Net, Synapses, Transcription, Genetic, Odds Ratio, Germ-Line Mutation, Genetic Predisposition to Disease, Mutation, Missense, Chromatin Assembly and Disassembly, Exome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
