The DOI matches its Crossref record; 50 of the 50 references it cites were found in a registry or an index.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Open accessAbstract
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no previous history of ASD or related phenotypes--so-called sporadic or simplex families--we sequenced all coding regions of the genome (the exome) for parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported. Additionally, we also sequenced the exomes of 50 unaffected siblings corresponding to these new (n = 31) and previously reported trios (n = 19), for a total of 677 individual exomes from 209 families. Here we show that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD. Moreover, 39% (49 of 126) of the most severe or disruptive de novo mutations map to a highly interconnected β-catenin/chromatin remodelling protein network ranked significantly for autism candidate genes. In proband exomes, recurrent protein-altering mutations were observed in two genes: CHD8 and NTNG1. Mutation screening of six candidate genes in 1,703 ASD probands identified additional de novo, protein-altering mutations in GRIN2B, LAMC3 and SCN1A. Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.
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In the citing paper
“including that, prima facie , most proteins encoded by ASD risk genes are involved either in synaptic structure and function or chromatin modification and regulation of gene expression 38,46,47,58 (Fig. 3).”
From Autism spectrum disorder (2020) · cites this paper as [38]
Experimental — accuracy not yet 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 [39]
In the citing paper
“An analysis of publicly released whole exome sequence data (Iossifov et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) showed a modest trend towards an excess of biallelic, inherited, rare (MAF<1%), protein-altering variants in cases (8/612 ) compared to control siblings (2/419) (p=0.21, Fisher’s exact test, two-tailed) in at least one of the genes we screened (Table S5).”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Hypomorphic, biallelic mutations, combined with CNVs and heterozygous stop mutations (Neale et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) which completely inactivate one of two alleles, suggest that a common theme for ASD mutations in general might be partial loss of gene function and/or dosage sensitivity.”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Together, results from these papers demonstrate a significant role for rare SNVs in genetic liability for ASD”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [49]
In the citing paper
“Exome and whole-genome sequencing studies have estimated at least another ∼6% contribution to ASD7–10,15”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [10]
In the citing paper
“and three other recent studies by Sanders et al.8, O’Roak et al.7 and Neale et al.23 (65 genes combined from all three; referred to as ‘SON-exomes’);”
From Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism (2014) · cites this paper as [7]
In the citing paper
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“Genetic investigations in ASD have constructed seed-based networks with literature-curated PPIs to identify the convergence of ASD risk genes71,73.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“This approach was applied to identify a highly interconnected PPI subnetwork among rare de novo variants in ASD71.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“Many strong neurobiological candidates have emerged from the genes disrupted by de novo mutations in these studies, including mutations in previously identified ASD/ID genes.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“We note that the strongest effects are observed for de novo loss-of-function (or truncating) mutations”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“Exome sequencing of ASD/ID families has revealed a significant excess of de novo mutations in probands when compared to unaffected siblings and has identified novel candidate genes contributing to the neurological deficits.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“New exome sequencing technology has identified novel rare variants and has found that sporadic cases of ASD/ID are enriched for disruptive de novo mutations.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“Another striking candidate is DYRK1A (dual-specificity tyrosine phosphorylation-regulated kinase 1A), for which three truncating mutations have been discovered in autism probands [24,44] and de novo structural variants in ID probands [54,55].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“In summary, only three genes [CHD8, SCN2A, and synaptic Ras GTPase activating protein 1 (SYNGAP1)] had two independent truncating de novo mutations in any single study, and no gene had more than three mutations.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“one de novo frameshift of ARID1B was found in a sporadic ASD case [24]”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“In the case of paternal age, one mediating mechanism lies in the increased rate of de novo SNV and CNV with advancing paternal age (22,24,25,43,44).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [25]
In the citing paper
“TBR1 has been implicated in ASD (21,22,25,26) and ID (73).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [25]
In the citing paper
“Qualitatively, recent studies of rare variants also find it challenging to distinguish risk variation from the background stochastic noise (12–15).”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [13]
In the citing paper
“De novo loss of function mutations in this gene had previously been identified in two patients by WES2 and targeted resequencing16 of patients with ASD. In those studies however, causal relationship did not reach locus-specific significance.”
From A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (2014) · cites this paper as [2]
In the citing paper
“Albeit rare, de novo mutations have emerged as substantial contributors to ASD risk [83, 165, 166, 254, 261, 309].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [261]
In the citing paper
“Chromodomain helicase DNA-binding protein 8 (CHD8), encoding a chromatin modifying gene on chromosome 14q11.2, is one of the high-penetrance ASD risk genes recently identified by sequencing studies [83, 165, 261, 347].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [261]
In the citing paper
“no truncating coding-sequence variation within SHANK1 and SHANK3”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [36]
In the citing paper
“Recent exome sequencing studies only reported one de novo SHANK2 mutation out of 965 patients [32], [36], [37]”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [36]
In the citing paper
“estimates from de novo exonic mutations (similar to those from SV data) suggest that ASD is highly polygenic (estimates ranged from 400–1000 genes). 84,85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Three recent papers describe the results from exome sequencing of ~600 trios, and identify roles for de novo exonic mutations in SCN2A, KATNAL2, and CHD8 in the pathogenesis of ASD. 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Intriguingly, all three studies noted an increased rate of de novo exonic mutations in older parents (with the mutations generally being of paternal origin), 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“However, a central finding from these papers was that only a minority of cases had a de novo putatively functional variant”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Unexpectedly, simplex and multiplex ASD pedigrees show relatively similar de novo mutation rates for SV 80,81 and exonic variation. 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Projections for ASD and SCZ suggest that variation at hundreds of different genes will ultimately be shown to be involved. 58,80,85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“The published results for ASD 83–85 and unpublished data on SCZ suggest these issues will be important and underscore the need for sequencing studies to have the same emphasis on statistical rigor and large sample sizes that has enabled GWAS to realize success for multiple psychiatric disorders. 154”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
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“Control data for whole exome sequencing: We obtained a total of 1,184 quartets from the SSC, which were previously captured on the Nimblegen EZ v2 array and sequenced with the Illumina Hiseq 2000 platform (Iossifov et al., 2012, 2014; Krumm et al., 2015; O’Roak et al., 2012; Sanders et al., 2012, 2015).”
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“, 2015) have been linked to ASD, including GluN2B; Shank-1, -2, and -3; SAPAP-1, -2, -3, -4; and Homer-1 (Durand et al., 2007; Berkel et al., 2010; Pinto et al., 2010; O’Roak et al., 2012; Sato et al., 2012).”
BackgroundBowton, E., Saunders, C., Reddy, I. A., Campbell, N. G., Hamilton, P. J., Henry, L. K., Coon, H. H., Sakrikar, D. S., Veenstra-VanderWeele, J. M., Blakely, R., et al. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.90 · Cited by 119
The genetic variability and commonality of neurodevelopmental disease
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Regulation of neuronal migration, an emerging topic in autism spectrum disorders
Reiner, O., Karzbrun, E., Kshirsagar, A., & Kaibuchi, K. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13403 · Cited by 129
Channelopathy pathogenesis in autism spectrum disorders
Schmunk, G., & Gargus, J. J. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00222 · Cited by 126
Whole-genome and whole-exome sequencing in neurological diseases
Foo, J. N., Liu, J., & Tan, E. (2012) · Nature Reviews Neurology · doi:10.1038/nrneurol.2012.148 · Cited by 124
Edwards, S. M., Sørensen, I. F., Sarup, P. M., Mackay, T. F. C., & Sørensen, P. B. (2016) · Genetics · doi:10.1534/genetics.116.187161 · Cited by 126
Potential serum biomarkers from a metabolomics study of autism
Wang, H., Liang, S., Wang, M., Gao, J., Sun, C., Wang, J., Xia, W. T., Wu, S., Sumner, S., Zhang, F., et al. (2015) · Journal of Psychiatry and Neuroscience · doi:10.1503/jpn.140009 · Cited by 121
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The contributions of rare inherited and polygenic risk to ASD in multiplex families
Cirnigliaro, M., Chang, T. S., Arteaga, S. A., Pérez‐Cano, L., Ruzzo, E. K., Gordon, A., Bicks, L. K., Jung, J.-Y., Lowe, J. K., Wall, D. P., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2215632120 · Cited by 124
“2020), identifying over 100 genes whose risk is due primarily to rare de novo copy number variants or protein truncating variants (Yuen et al. 2017; Werling et al. 2018; Feliciano et al. 2019; Satterstrom et al. 2020; Sanders et al. 2015; Turner et al. 2017; Dong et al. 2014; Iossifov et al. 2014; O’Roak et al. 2012;…”
Protein–protein interactions and genetic diseases: The interactome
Lage, K. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.05.028 · Cited by 125
Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations
Gratten, J., Wray, N. R., Peyrot, W. J., McGrath, J. J., Visscher, P. M., & Goddard, M. E. (2016) · Nature Genetics · doi:10.1038/ng.3577 · Cited by 118
A twin study of heritable and shared environmental contributions to autism
Frazier, T. W., Thompson, L., Youngstrom, E. A., Law, P., Hardan, A. Y., Eng, C., & Morris, N. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2081-2 · Cited by 120
Mutations ofANK3identified by exome sequencing are associated with autism susceptibility
Bi, C., Wu, J., Jiang, T., Liu, Q., Cai, W., Yu, P., Cai, T., Zhao, M., Jiang, Y., & Sun, Z. S. (2012) · Human Mutation · doi:10.1002/humu.22174 · Cited by 120
“Our finding is in a general agreement with the several recent whole-exome studies of ASDs [Iossifov et al., 2012; Neale et al., 2012; O’Roak et al., 2012; Sanders et al., 2012], which support a conclusion that genetic etiology of ASDs are heterogeneous and”
BackgroundResultInfluentialHigh diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
Martı́nez, F., Caro‐Llopis, A., Rosello, M., Oltra, S., Mayo, S., Monfort, S., & Orellana, C. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103964 · Cited by 122
Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons
Marro, S. G., Chanda, S., Yang, N., Janas, J. A., Valperga, G., Trotter, J. H., Zhou, B., Merrill, S. A., Yousif, I., Shelby, H., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.05.043 · Cited by 120
“Although most ASD cases are nonsyndromic, they are still largely associated with genetic factors (Beaudet, 2007) that are characterized by extreme genetic heterogeneity, possibly involving hundreds of genes with individually low penetrance (Iossifov et al., 2014; Neale et al., 2012; O’Roak et al., 2012; Sanders et al.…”
BackgroundBlok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-06014-6 · Cited by 121
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
Brunet, T., Jech, R., Brügger, M., Kovacs, R., Alhaddad, B., Leszinski, G. S., Riedhammer, K. M., Westphal, D. S., Mahle, I., Mayerhanser, K., et al. (2021) · Clinical Genetics · doi:10.1111/cge.13946 · Cited by 119
Genome‐wide Association Study of Autism Spectrum Disorder in the East Asian Populations
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“Rare de novo mutations and CNV in the YTHDC2 gene have been identified in individuals with ASD [O’Roak et al., 2012].”
BackgroundGenetics of Primary Aldosteronism
Scholl, U. I. (2022) · Hypertension · doi:10.1161/hypertensionaha.121.16498 · Cited by 118
Transmission Disequilibrium of Small CNVs in Simplex Autism
Krumm, N., O’Roak, B. J., Karakoc, E., Mohajeri, K., Nelson, B., Vives, L., Jacquemont, S., Munson, J., Bernier, R., & Eichler, E. E. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.07.024 · Cited by 113
Self-citationIncreased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTor
Oguro-Ando, A., Rosensweig, C., Herman, E., Nishimura, Y., Werling, D., Bill, B. R., Berg, J. M., Gao, F., Coppola, G., Abrahams, B. S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.124 · Cited by 117
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“3 L-type calcium channels (LTCC) (7) identified in two patients with ASD (8,9).”
BackgroundNapoli, E., Ross‐Inta, C., Wong, S., Hung, C., Fujisawa, Y., Sakaguchi, D., Angelastro, J. M., Omanska-Klusek, A., Schoenfeld, R. A., & Giulivi, C. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042504 · Cited by 116
Toma, C., Torrico, B., Hervás, A., Valdés-Mas, R., Tristán-Noguero, A., Padillo, V, Maristany, M., Salgado, M., Arenas, C., Puente, X. S., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.106 · Cited by 114
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De novo TBR1 mutations in sporadic autism disrupt protein functions
Deriziotis, P., O’Roak, B. J., Graham, S. A., Estruch, S. B., Dimitropoulou, D., Bernier, R., Gerdts, J. A., Shendure, J., Eichler, E. E., & Fisher, S. E. (2014) · Nature Communications · doi:10.1038/ncomms5954 · Cited by 115
Self-citationPoot, M., & Haaf, T. (2015) · Molecular Syndromology · doi:10.1159/000438812 · Cited by 116
“If this were true, the risk for chromothripsis increases with the age of the father, as has been found for SNVs and CNVs [Hehir-Kwa et al., 2011; O’Roak et al., 2012; Buizer-Voskamp et al., 2013].”
BackgroundUsing biological networks to integrate, visualize and analyze genomics data
Charitou, T., Bryan, K. R., & Lynn, D. J. (2016) · Genetics Selection Evolution · doi:10.1186/s12711-016-0205-1 · Cited by 121
“For example, 39 % of de novo severe or disruptive mutations that were associated with autism through exome sequencing, were found to map to a highly interconnected β-catenin/chromatin remodelling module [56].”
BackgroundMcManus, K. F., Oill, A. M. T., Henn, B. M., Bustamante, C. D., Sikora, M., & Cornejo, O. E. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006560 · Cited by 119
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How to overcome male infertility after 40: Influence of paternal age on fertility
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“[88] O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, et al.”
BackgroundAn autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
Sadybekov, A., Tian, C., Arnesano, C., Katritch, V., & Herring, B. E. (2017) · Nature Communications · doi:10.1038/s41467-017-00472-0 · Cited by 112
Frequency and complexity of de novo structural mutation in autism
Brandler, W. M., Antaki, D., Gujral, M., Noor, A., Rosanio, G., Chapman, T. R., Barrera, D. J., Lin, G. N., Malhotra, D., Watts, A. C., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.018 · Cited by 104
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“main cause of CHARGE syndrome, an autosomal-dominant syndrome that often impairs normal brain development, leading to cognitive disabilities (24), CHD8 is one of the nine highconfidence autism spectrum disorder (ASD)-risk genes (25, 26) and autism features are found in some CHARGE syndrome patients (27).”
BackgroundThe role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders
Mosconi, M. W., Wang, Z., Schmitt, L. M., Tsai, P., & Sweeney, J. A. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00296 · Cited by 112
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“Notably, mutations of Chd4-related ATP-dependent chromatin remodeling enzymes have been implicated in syndromic and nonsyndromic autism spectrum disorders (Jiang et al., 2013; O’Roak et al., 2012a, 2012b; Vissers et al., 2004).”
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“Within a complex cellular or tissue signaling pathway, capturing the genetic variation in one or more interacting proteins has yielded novel candidate genes in cancer and neurodevelopmental disorders [22,38].”
BackgroundSelf-citationRare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J. A., Liu, P., Guo, H., Kim, C. N., Vries, B. B. A. D., Vissers, L. E. L. M., Nordenskjöld, M., et al. (2021) · Genome Medicine · doi:10.1186/s13073-021-00870-6 · Cited by 113
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“An added difficulty arises in autism spectrum disorder (ASD) due to the enormous variety of genetic factors, with an estimated 230–400 autism susceptibility genes (even more, depending on the method of assessment [2–4]), in addition to environmental risk factors that are hypothesized to contribute to the behavioral ph…”
BackgroundThe FMRP regulon: from targets to disease convergence
Fernández, E., Rajan, N., & Bagni, C. (2013) · Frontiers in Neuroscience · doi:10.3389/fnins.2013.00191 · Cited by 117
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders
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“Whole-exome sequencing studies of over 1,000 ASD families revealed a de novo rate of potentially relevant SNVs in the order of 1–2 × 10 –8 per nucleotide and per generation [O’Roak et al., 2011, 2012; Iossifov et al., 2012; Neale et al., 2012; Sanders et al., 2012].”
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“Family 1 1233 (54) 108 (45) 109 828 1 (0) 122 (3) 137 (3) 568 (23) 77 5 (1) 72 (30) Family 2 1039 (40) 82 (37) 37 369 1 (0) 59 (3) 48 (1) 261 (8) 19 0 19 (6) Family 3 871 (16) 56 (22) 33 251 1 (0) 36 (0) 40 (1) 174 (2) 15 0 15 (9) Family 4 861 (27) 67 (23) 57 340 1 (0) 72 (4) 58 (1) 209 (2) 21 2 (1) 19 (8) Family 5 89…”
The developmental transcriptome of the human brain: implications for neurodevelopmental disorders
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“An initial assessment of the genes identified by whole-exome sequencing of simplex ASD families [10,12,14,15] using the BrainSpan exon array transcriptome dataset [5] and WGCNA highlighted the potential role in ASD pathobiology of chromatin regulation during early brain development [33 && ].”
MethodGORDON, A. S., Fulton, R. S., Qin, X., Mardis, E. R., Nickerson, D. A., & Scherer, S. (2016) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0000000000000202 · Cited by 111
Self-citationWang, C., Chung, B. C., Yan, H., Wang, H., Lee, S., & Pitt, G. S. (2014) · Nature Communications · doi:10.1038/ncomms5896 · Cited by 107
NMDA RECEPTOR DYSFUNCTION IN AUTISM SPECTRUM DISORDERS
Kim, E. (2023) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2023.08.2041 · Cited by 110
Kosillo, P., & Bateup, H. S. (2021) · Frontiers in Neural Circuits · doi:10.3389/fncir.2021.700968 · Cited by 112
Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology
Barnard, R., Pomaville, M. B., & O’Roak, B. J. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00477 · Cited by 111
Self-citationEvolution of GluN2A/B cytoplasmic domains diversified vertebrate synaptic plasticity and behavior
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Werling, D. M., & Geschwind, D. H. (2015) · Molecular Autism · doi:10.1186/s13229-015-0004-5 · Cited by 116
“The identification of these rare, de novo copy number and single nucleotide variants (CNV, SNV) in ASD cases from simplex families has proven especially fruitful for risk gene discovery in recent years [7-14].”
BackgroundOTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
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“, 2012), autism (Neale et al., 2012; O’Roak et al., 2012), and schizophrenia (Loe-Mie et al.”
Metadata
- Authors
- O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J. M., Borenstein, E., Rieder, M. J., Nickerson, D. A., Bernier, R., Shendure, J., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- Santa Fe Institute (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Shendure, Jay
- Eichler, Evan E.
- ORCID
- Venue
- Nature
- Published
- 2012-04-04
- Volume
- 485
- Issue
- 7397
- Pages
- 246-250
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3350576
- OpenAlex
- W1964444099
- Cited by
- 2,165
- References
- 50
- Citations by year
- 2026: 42 · 2025: 68 · 2024: 85 · 2023: 101 · 2022: 104 · 2021: 137 · 2020: 151 · 2019: 147 · 2018: 143 · 2017: 173 · 2016: 198 · 2015: 219 · 2014: 262 · 2013: 212 · 2012: 118
- FWCI
- 131.12
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Simons Foundation
- University of Washington
- Simons Foundation Autism Research Initiative (137578)
- National Institutes of Health
- National Heart, Lung, and Blood Institute (HL-102924, RC2HL102926, RC2HL102923, UC2HL102924, HL 1029230, R01HL094976, HL094976, RC2HL102924, UC2HL102926, HL-102926)
- National Human Genome Research Institute
- National Institute of Environmental Health Sciences (HHSN273200800010C)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD065285, R01HD065285)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- de novo mutations, paternal age, protein-protein interaction network, β-catenin signaling, chromatin remodeling, CHD8, SCN2A, NTNG1, locus heterogeneity, simplex families, autism risk genes, parent-child trios, unaffected siblings, recurrent mutations, p53 pathway, copy number variation
- MeSH terms
- Netrins, Autistic Disorder, DNA-Binding Proteins, Exons, Humans, Laminin, Nerve Tissue Proteins, Parents, Stochastic Processes, Transcription Factors, Reproducibility of Results, Sodium Channels, Signal Transduction, Tumor Suppressor Protein p53, Receptors, N-Methyl-D-Aspartate, Point Mutation, Genetic Predisposition to Disease, Siblings, beta Catenin, GPI-Linked Proteins, Exome, Protein Interaction Maps, NAV1.1 Voltage-Gated Sodium Channel
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