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.
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 cited source doesn’t support the claim as written.
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]
Checked by a reasoning model — may be wrong.
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
“including that, prima facie , most proteins encoded by ASD risk genes are involved either in synaptic structure and function or chromatin modification and regulation of gene expression 38,46,47,58 (Fig. 3).”
From Autism spectrum disorder (2020) · cites this paper as [38]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“CNVs and SNPs have both been reported to play a major role in autism incidence (36–41).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [39]
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 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]
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
“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]
Experimental — accuracy not yet measured
The cited source says what the claim attributes to it.
In the citing paper
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
The cited source says what the claim attributes to it.
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
“An analysis of publicly released whole exome sequence data (Iossifov et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) showed a modest trend towards an excess of biallelic, inherited, rare (MAF<1%), protein-altering variants in cases (8/612 ) compared to control siblings (2/419) (p=0.21, Fisher’s exact test, two-tailed) in at least one of the genes we screened (Table S5).”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Hypomorphic, biallelic mutations, combined with CNVs and heterozygous stop mutations (Neale et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) which completely inactivate one of two alleles, suggest that a common theme for ASD mutations in general might be partial loss of gene function and/or dosage sensitivity.”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Together, results from these papers demonstrate a significant role for rare SNVs in genetic liability for ASD”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [49]
In the citing paper
“Exome and whole-genome sequencing studies have estimated at least another ∼6% contribution to ASD7–10,15”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [10]
In the citing paper
“and three other recent studies by Sanders et al.8, O’Roak et al.7 and Neale et al.23 (65 genes combined from all three; referred to as ‘SON-exomes’);”
From Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism (2014) · cites this paper as [7]
In the citing paper
“Genetic investigations in ASD have constructed seed-based networks with literature-curated PPIs to identify the convergence of ASD risk genes71,73.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“This approach was applied to identify a highly interconnected PPI subnetwork among rare de novo variants in ASD71.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“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
“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]
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
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
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., & Wold, B. (2008) · Nature Methods · doi:10.1038/nmeth.1226 · Cited by 13,696
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
Warde-Farley, D., Donaldson, S. L., Comes, O., Zuberi, K., Badrawi, R., Chao, P., Franz, M., Grouios, C., Kazi, F., Lopes, C. T., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq537 · Cited by 4,835
Kessler, R. C., & Üstün, T. B. (2004) · International Journal of Methods in Psychiatric Research · doi:10.1002/mpr.168 · Cited by 4,771
Cytoscape 2.8: new features for data integration and network visualization
Smoot, M. E., Ono, K., Ruscheinski, J., Wang, P., & Ideker, T. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq675 · Cited by 4,770
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
Transcriptomic 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
Computing topological parameters of biological networks
Assenov, Y., Ramírez, F., Schelhorn, S.-E., Lengauer, T., & Albrecht, M. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm554 · Cited by 1,805
Estimating the Number of Classes via Sample Coverage
Chao, A., & Lee, S. (1992) · Journal of the American Statistical Association · doi:10.1080/01621459.1992.10475194 · Cited by 1,472
Cited by
Sorted by citations
Items 901–1,000 of 1,011
Moreno-Ramos, O. A., Olivares, A. M., Haider, N. B., de Autismo, L. C., & Lattig, M. C. (2015) · PLoS ONE · doi:10.1371/journal.pone.0135927 · Cited by 39
Voltage-gated Calcium Channels and Autism Spectrum Disorders
Breitenkamp, A. F., Matthes, J., & Herzig, S. (2015) · Current Molecular Pharmacology · doi:10.2174/1874467208666150507105235 · Cited by 36
Ulk4 Regulates Neural Stem Cell Pool
Liu, M., Guan, Z., Shen, Q., Flinter, F. A., Domínguez, L., Ahn, J. W., Collier, D. A., O’Brien, T., & Shen, S. (2016) · Stem Cells · doi:10.1002/stem.2423 · Cited by 34
Lee, Y., Kang, H., Lee, B., Zhang, Y., Kim, Y., Kim, S., Kim, W.-K., & Han, K. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00110 · Cited by 37
“This result is consistent with the results from recent studies showing that groups of genes mutated in ASD or SCZ could generate highly interconnected PPI networks (O’Roak et al., 2012; De Rubeis et al., 2014; Fromer et al., 2014).”
BackgroundResultAssociation of genes with phenotype in autism spectrum disorder
Nisar, S., Hashem, S., Bhat, A. A., Syed, N., Yadav, S. K., Azeem, M. W., Shahab Uddin, M. S., Bagga, P., Reddy, R. D., & Haris, M. (2019) · Aging · doi:10.18632/aging.102473 · Cited by 39
“In addition, they encode for ion channels [32].”
BackgroundThe Ubiquitin System: a Regulatory Hub for Intellectual Disability and Autism Spectrum Disorder
Kasherman, M. A., Premarathne, S., Burne, T. H. J., Wood, S. A., & Piper, M. (2020) · Molecular Neurobiology · doi:10.1007/s12035-020-01881-x · Cited by 41
Precision medicine — networks to the rescue
Yadav, A., Vidal, M., & Luck, K. (2020) · Current Opinion in Biotechnology · doi:10.1016/j.copbio.2020.02.005 · Cited by 37
“Indeed, using this approach various studies have identified novel diseaseassociated mechanisms [42,43].”
BackgroundFan, C.-X., Gao, Y., Liang, G., Huang, L., Wang, J., Yang, X., Shi, Y., Dräger, U. C., Zhong, M., Gao, T., et al. (2020) · Molecular Autism · doi:10.1186/s13229-020-0318-9 · Cited by 38
“A general explanation for the high genetic heterogeneity despite similar phenotypic features is the hypothesis that the risk genes share a common molecular network [20, 22].”
BackgroundChd8 haploinsufficiency impairs early brain development and protein homeostasis later in life
Jiménez, J. A., Ptacek, T., Tuttle, A. H., Schmid, R. S., Moy, S. S., Simon, J. M., & Zylka, M. J. (2020) · Molecular Autism · doi:10.1186/s13229-020-00369-8 · Cited by 37
“Likewise, macrocephaly is commonly observed in humans carrying disruptive CHD8 mutations [10, 14, 21].”
BackgroundSun, X., Wang, L., Wei, C., Sun, M., Li, Q., Meng, H., Yue, W., Zhang, D., & Li, J. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01109-x · Cited by 34
Marques, P., & Korbonits, M. (2018) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2018.11.001 · Cited by 36
Nagalski, A., Irimia, M., Szewczyk, Ł. M., Ferrán, J. L., Misztal, K., Kuźnicki, J., & Wisniewska, M. B. (2012) · Brain Structure and Function · doi:10.1007/s00429-012-0474-6 · Cited by 35
“2011), and many proteins mutated in sporadic autism are part of the b-catenin signaling network (O’Roak et al. 2012).”
BackgroundA gradient-boosting approach for filtering de novo mutations in parent–offspring trios
Liu, Y., Li, B., Tan, R., Zhu, X., & Wang, Y. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu141 · Cited by 35
Presynaptic NMDA receptors: dynamics and distribution in developing axons in vitro and in vivo
Gill, I., Droubi, S., Giovedı̀, S., Fedder-Semmes, K. N., Bury, L. A. D., Bosco, F., Sceniak, M. P., Benfenati, F., & Sabo, S. L. (2014) · Journal of Cell Science · doi:10.1242/jcs.162362 · Cited by 36
“…in NMDAR subunits are associated with autism, intellectual disability and epilepsy (Endele et al., 2010; Hamdan et al., 2011; O’Roak et al., 2011; O’Roak et al., 2012a; O’Roak et al., 2012b; Tarabeux et al., 2010; Yoo et al., 2012), and it will be interesting to determine whether presynaptic…”
BackgroundLong genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domainsPreprint
Zhao, Y.-T., Kwon, D. Y., Johnson, B. S., Fasolino, M., Lamonica, J. M., Kim, Y. J., Zhao, B. S., He, C., Vahedi, G., Kim, T. H., et al. (2018) · Genome Research · doi:10.1101/gr.233775.117 · Cited by 36
“of ASD risk genes that are involved in chromatin regulation (Neale et al. 2012; O’Roak et al. 2012; Sanders et al. 2012; Talkowski et al. 2012; De Rubeis et al. 2014; Iossifov et al. 2014; Iwase et al. 2017; Redin et al. 2017).”
BackgroundHowell, B. W., & Smith, K. M. (2019) · Pharmacological Research · doi:10.1016/j.phrs.2018.11.019 · Cited by 35
The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders
Jolly, L. A., Kumar, R., Penzes, P., Piper, M., & Gécz, J. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.03.022 · Cited by 35
Defining the Contribution of CNTNAP2 to Autism Susceptibility
Sampath, S., Bhat, S., Gupta, S., O’Connor, A., West, A. B., Arking, D. E., & Chakravarti, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0077906 · Cited by 39
“First, it is generally believed that different types of sequence variants impart quantitatively different genetic risks and are, therefore, enriched in different types of families: for example, multiplex families are enriched for rare variants of large effect [62,63] whereas simplex families harbor common variants of…”
BackgroundBalan, S., Iwayama, Y., Maekawa, M., Toyota, T., Ohnishi, T., Toyoshima, M., Shimamoto, C., Esaki, K., Yamada, K., Iwata, Y., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-49 · Cited by 36
“In addition, a de novo deletion and rare inherited loss of function mutation in EHMT1 were observed in a sporadic ASD trio sample [24] and in ASD families [25], respectively.”
BackgroundWang, Q., Amato, S., Rubitski, D. M., Hayward, M., Kormos, B. L., Verhoest, P., Xu, L., Brandon, N., & Ehlers, M. (2016) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.115.229880 · Cited by 34
Courchet, V., Roberts, A. J., Meyer-Dilhet, G., del Carmine, P., Lewis, T. L., Polleux, F., & Courchet, J. (2018) · Nature Communications · doi:10.1038/s41467-018-06584-5 · Cited by 39
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
Marzin, P., Rondeau, S., Aldinger, K. A., Alessandri, J., Isidor, B., Héron, D., Keren, B., Dobyns, W. B., & Cormier‐Daire, V. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31746 · Cited by 37
Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders
Mossa, A., & Manzini, M. C. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24577 · Cited by 37
Evgrafov, O. V., Armoskus, C., Wrobel, B., Spitsyna, V. N., Souaiaia, T., Herstein, J. S., Walker, C., Nguyen, J. D. K., Camarena, A., Weitz, J., et al. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.01.005 · Cited by 34
Study, C., Nambot, S., Faivre, L. O., Mirzaa, G., Thévenon, J., Bruel, A., Mosca‐Boidron, A., Masurel, A., Goldenberg, A., Meur, N. L., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0571-6 · Cited by 35
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Sadler, B. E., Wilborn, J., Antunes, L., Kuensting, T., Hale, A. T., Gannon, S. R., McCall, K., Cruchaga, C., Harms, M. B., Voisin, N., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.12.001 · Cited by 37
Developmental disabilities across the world: A scientometric review from 1936 to 2020
Carollo, A., Bonassi, A., Lim, M., Gabrieli, G., Setoh, P., Dimitriou, D., Aryadoust, V., & Esposito, G. (2021) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2021.104031 · Cited by 35
Pescosolido, M. F., Uzun, E. D. G., Nagpal, S., & Morrow, E. M. (2013) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2013.01.003 · Cited by 35
A Genome Scan for Loci Shared by Autism Spectrum Disorder and Language Impairment
Bartlett, C. W., Hou, L., Flax, J. F., Hare, A., Cheong, S. Y., Fermano, Z., Zimmerman-Bier, B., Cartwright, C., Azaro, M. A., Buyske, S. G., et al. (2013) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2013.12081103 · Cited by 35
“Rare variant studies indicate widespread heterogeneity (44-47), though it remains unclear what proportions of genetic mechanisms for ASD involve”
BackgroundZemet, R., den Veyver, I. B. V., & Stankiewicz, P. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6144 · Cited by 35
Thongkorn, S., Kanlayaprasit, S., Kasitipradit, K., Lertpeerapan, P., Panjabud, P., Hu, V. W., Jindatip, D., & Sarachana, T. (2023) · Biology of Sex Differences · doi:10.1186/s13293-023-00496-w · Cited by 33
“Notably, AUTS2, SMARCC2, and KMT2C are known to be ASD-candidate genes [101, 111, 112].”
BackgroundShi, X., Lu, C., Corman, A., Nikish, A., Zhou, Y., Platt, R. J., Iossifov, I. H., Zhang, F., Pan, J. Q., & Sanjana, N. E. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.09.004 · Cited by 35
“10,11,52 We co-transfected an EFS-Cas9-2A-EGFP plasmid and a U6-driven guide-RNA plasmid into HUES66 hESCs.”
BackgroundMethodHelsmoortel, C., Vandeweyer, G., Ordoukhanian, P. T., Nieuwerburgh, F. V., der Aa, N. V., & Kooy, R. F. (2014) · Clinical Genetics · doi:10.1111/cge.12470 · Cited by 34
“However, at the time of the initial finding, only two other patients, both affected with ASD/ID had been reported to carry de novo truncating variants in ADNP (26, 35).”
BackgroundInfluentialSequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism
Wang, L., Li, J., Ruan, Y., Lu, T., Liu, C., Jia, M., Yue, W., Liu, J., Bourgeron, T., & Zhang, D. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053727 · Cited by 36
“These variants were not reported by recent exome sequencing researches in ASD [42–44].”
BackgroundThe Pleiotropic MET Receptor Network: Circuit Development and the Neural-Medical Interface of Autism
Eagleson, K. L., Xie, Z., & Levitt, P. R. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.08.035 · Cited by 33
Zhu, X., Padmanabhan, R., Copeland, B. R., Bridgers, J., Ren, Z., Kamalakaran, S., O’Driscoll-Collins, A., Berkovic, S. F., Scheffer, I. E., Poduri, A., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1007104 · Cited by 35
The ubiquitin proteasome pathway in neuropsychiatric disorders
Cheon, S., Dean, M., & Chahrour, M. H. (2018) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2018.01.012 · Cited by 34
Burket, J. A., & Deutsch, S. I. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.11.017 · Cited by 34
New developmental syndromes: Understanding the family experience
Inglese, C. N., Elliott, A. M., Study, C., & Lehman, A. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1121 · Cited by 34
Torrico, B., Shaw, A. D., Mosca, R., Vivó-Luque, N., Hervás, A., Fernàndez-Castillo, N., Aloy, P., Bayés, M., Fullerton, J. M., Cormand, B., et al. (2019) · Journal of Psychiatry and Neuroscience · doi:10.1503/jpn.180184 · Cited by 34
Network Diffusion Promotes the Integrative Analysis of Multiple Omics
Nanni, N. D., Bersanelli, M., Milanesi, L., & Mosca, E. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00106 · Cited by 35
Genomic approaches for studying craniofacial disorders
Khandelwal, K. D., van Bokhoven, H., Roscioli, T., Carels, C. E. L., & Zhou, H. (2013) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31379 · Cited by 35
The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome
Heinzen, E. L., Neale, B. M., Traynelis, S. F., Allen, A. S., & Goldstein, D. B. (2015) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-071714-034136 · Cited by 33
“Using these exome-wide approaches, studies have shown increased rates of de novo loss-of-function mutations in the exomes of individuals with autism or intellectual disability (Neale et al. 2012, O’Roak et al. 2012).”
BackgroundClinical causes and treatment of the thrombotic storm
Ortel, T. L., Kitchens, C. S., Erkan, D., Brandão, L. R., Hahn, S. E., James, A., Kulkarni, R., Manco‐Johnson, M. J., Pericak‐Vance, M. A., & Vance, J. M. (2012) · Expert Review of Hematology · doi:10.1586/ehm.12.56 · Cited by 34
Transcriptional Regulation of Olfactory Bulb Neurogenesis
Díaz‐Guerra, E., Pignatelli, J., Nieto‐Estévez, V., & Vicario‐Abejón, C. (2013) · The Anatomical Record · doi:10.1002/ar.22733 · Cited by 33
“In humans, alterations and mutations in the CASKTBR1-RELN signaling pathway have been involved in the development of an X-linked microcephaly syndrome and autism spectrum disorders (Bailey and Aldinger, 2009; Neale et al., 2012; O’Roak et al., 2012; Traylor et al., 2012).”
BackgroundBuxbaum, J. D., Bolshakova, N., Brownfeld, J. M., Anney, R., Bender, P. K., Bernier, R., Cook, E. H., Coon, H. H., Cuccaro, M. L., Freitag, C. M., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-34 · Cited by 32
“A substantial portion of the risk for ASD traces to genetic variation, either inherited [1,3,4] or arising de novo [5-11].”
BackgroundSelf-citationHECT‐type E3 ubiquitin ligases in nerve cell development and synapse physiology
Ambrozkiewicz, M. C., & Kawabe, H. (2015) · FEBS Letters · doi:10.1016/j.febslet.2015.05.009 · Cited by 31
Monteiro, R. A. C., de Freitas, M. L., Vianna, G. S., de Oliveira, V. T., Pietra, R. X., Ferreira, L. C. D. A., Rocha, P. P. O., Gonçalves, M. D. S., César, G. D. C., Lima, J. D. S., et al. (2017) · Molecular Syndromology · doi:10.1159/000477226 · Cited by 33
“…the role of TOP3B in cardiac development still needs to be further studied because, even though TOP3B is also expressed in the heart, deletions or mutations of this gene are more frequently described in patients with neurological developmental delay [O’Roak et al., 2012; Stoll et al., 2013].”
BackgroundIncorporating Functional Information in Tests of Excess De Novo Mutational Load
Jiang, Y., Han, Y., Petrovski, S., Owzar, K., Goldstein, D. B., & Allen, A. S. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.013 · Cited by 30
“We applied fitDNM, TADA-denovo, and the Poisson test to trios affected by four neurodevelopmental diseases: 264 by EE,7 151 by severe ID,12,21 354 by SZ,22–24 and 948 by ASD.8–10,25 These datasets have been previously analyzed The Amer in a number of ways.”
BackgroundMethodInfluentialSekido, R. (2014) · Advances in genetics · doi:10.1016/b978-0-12-800222-3.00007-3 · Cited by 34
Wu, Z., Li, D., Huang, Y., Chen, X., Huang, W., Liu, C., Zhao, H., Xu, R., Cheng, M., Schachner, M., et al. (2016) · Cerebral Cortex · doi:10.1093/cercor/bhv318 · Cited by 34
“Novel functions of the Caspr family members have been identified recently in brain development, with Caspr2, Caspr4, and Caspr5 being risk factors in autism spectrum disorders (ASDs) (Mitchell 2011; Penagarikano et al. 2011; Anderson et al. 2012; O’Roak et al. 2012; Karayannis et al. 2014).”
BackgroundHuang, Y.-F., & Siepel, A. C. (2019) · Genome Research · doi:10.1101/gr.245522.118 · Cited by 34
“…with a reported enrichment for likely gene-disrupting de novo mutations in ASD-affected probands relative to unaffected siblings, suggesting the existence of ∼ 400 ASD-associated genes under particularly strong selection (Iossifov et al. 2012, 2014; O ’ Roak et al. 2012; Sanders et al. 2012).”
BackgroundCHD8 intragenic deletion associated with autism spectrum disorder
Stolerman, E. S., Smith, B. T., Chaubey, A., & Jones, J. R. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.02.010 · Cited by 30
Bock, I., Németh, K., Pentelényi, K., Balicza, P., Balázs, A., Molnár, M. J., Román, V., Nagy, J., Lévay, G. I., Kobolák, J., et al. (2016) · Gene · doi:10.1016/j.gene.2016.09.027 · Cited by 34
Fricano-Kugler, C. J., Getz, S. A., Williams, M. R., Zurawel, A. A., DeSpenza, T., Frazel, P. W., Li, M., O’Malley, A. J., Moen, E. L., & Luikart, B. W. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.11.025 · Cited by 32
Autism throughout genetics: Perusal of the implication of ion channels
Daghsni, M., Rima, M., Fajloun, Z., Ronjat, M., Brusés, J. L., Mrad, R., & WAARD, M. M. D. (2018) · Brain and Behavior · doi:10.1002/brb3.978 · Cited by 35
Malvaez, M. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24552 · Cited by 37
Mental health dished up—the use of iPSC models in neuropsychiatric research
McNeill, R. V., Ziegler, G. C., Radtke, F., Nieberler, M., Lesch, K., & Kittel‐Schneider, S. (2020) · Journal of Neural Transmission · doi:10.1007/s00702-020-02197-9 · Cited by 32
Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations
Hansmann, P., Brückner, A., Kiontke, S., Berkenfeld, B., Seebohm, G., Brouillard, P., Vikkula, M., Jansen, F. E., Nellist, M. D., Oeckinghaus, A., et al. (2020) · Structure · doi:10.1016/j.str.2020.05.008 · Cited by 33
Wang, H. B., Tahara, Y., Luk, S. H. C., Kim, Y.-S., Hitchcock, O. N., Kaswan, Z. A. M., Kim, Y. I., Block, G. D., Ghiani, C. A., Loh, D. H., et al. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105064 · Cited by 33
Linking Autism Risk Genes to Disruption of Cortical Development
García-Forn, M., Boitnott, A., Akpinar, Z., & Rubeis, S. D. (2020) · Cells · doi:10.3390/cells9112500 · Cited by 35
Design and synthesis of a potent inhibitor of class 1 DYRK kinases as a suppressor of adipogenesis
Masaki, S., Kii, I., Sumida, Y., Kato‐Sumida, T., Ogawa, Y., Ito, N., Nakamura, M., Sonamoto, R., Kataoka, N., Hosoya, T., et al. (2015) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2015.06.018 · Cited by 32
A Candidate Gene Association Study Further Corroborates Involvement of Contactin Genes in Autism
Poot, M. (2014) · Molecular Syndromology · doi:10.1159/000362891 · Cited by 36
Sex-biased gene expression in the developing brain: implications for autism spectrum disorders
Ziats, M. N., & Rennert, O. M. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-10 · Cited by 35
“Moreover, recent large DNA sequencing studies repeatedly identified a chromatin-remodeling gene as one of only a few reaching genome-wide significance [11,12].”
BackgroundTranslating human genetics into mouse: The impact of ultra‐rapid in vivo genome editing
Aida, T., Imahashi, R., & Tanaka, K. (2013) · Development Growth & Differentiation · doi:10.1111/dgd.12101 · Cited by 33
Koshimizu, E., Miyatake, S., Okamoto, N., Nakashima, M., Tsurusaki, Y., Miyake, N., Saitsu, H., & Matsumoto, N. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074167 · Cited by 33
“Conversely, rare variants occurring de novo or inherited are assumed to affect ASD risk as well [1,10–13].”
BackgroundLack of support for the time‐dependent molecular evolution hypothesis
Emerson, B. C., & Hickerson, M. J. (2015) · Molecular Ecology · doi:10.1111/mec.13070 · Cited by 31
“…genome pedigree and population analyses, all of which converge on a human generational rate estimate that is actually less than the phylogenetic estimate (Altshuler et al. 2010; Awadalla et al. 2010; Lynch 2010; Roach et al. 2010; Nelson et al. 2012; O’Roak et al. 2012; Sanders et al. 2012).”
BackgroundResultInfluentialGenetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism
Yu, L., Wu, Y., & Wu, B.-L. (2015) · Science China Life Sciences · doi:10.1007/s11427-015-4941-1 · Cited by 31
Beta-catenin in schizophrenia: Possibly deleterious novel mutation
Levchenko, А., Davtian, S. E., Freylichman, O., Zagrivnaya, M., Kostareva, A. A., & Malashichev, Y. B. (2015) · Psychiatry Research · doi:10.1016/j.psychres.2015.05.014 · Cited by 32
“Numerous, protein-disrupting mutations were found in this gene in patients with autism and mental retardation (de Ligt et al., 2012; O’Roak et al., 2012; Tucci et al., 2014).”
BackgroundSomatic mutations in disorders with disrupted brain connectivity
Lee, J. H. (2016) · Experimental & Molecular Medicine · doi:10.1038/emm.2016.53 · Cited by 29
Merker, S., Reif, A., Ziegler, G. C., Weber, H., Mayer, U., Ehlis, A., Conzelmann, A., Johansson, S., Müller‐Reible, C., Nanda, I., et al. (2017) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12702 · Cited by 31
Oron, O., & Elliott, E. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18040828 · Cited by 32
“sequenced the exome of 209 families with sporadic cases of ASD, revealing 126 genes which had truncation or missense mutations, followed by PPI analysis, to determine if these genes form a biologically-relevant network [23].”
BackgroundA comparative study of the genetic components of three subcategories of autism spectrum disorder
Li, J., Hu, S., Zhang, K., Shi, L., Zhang, Y., Zhao, T., Wang, L., He, X., Xia, K., Liu, C., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0081-x · Cited by 30
Histone modifications, DNA methylation, and the epigenetic code of alcohol use disorder
Bohnsack, J. P., & Pandey, S. C. (2020) · International review of neurobiology · doi:10.1016/bs.irn.2020.08.005 · Cited by 32
“CHD8 was identified in large-scale exome sequencing as being an autism candidate gene (O’Roak et al., 2012), suggesting that chromo-domain proteins play a role in regulating brain activity and may be involved in critical periods of brain development.”
BackgroundRhine, C. L., Neil, C. R., Wang, J., Maguire, S., Buerer, L., Salomon, M., Meremikwu, I. C., Kim, J. E., Strande, N. T., & Fairbrother, W. G. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1009884 · Cited by 30
Smith, R. M., Banks, W., Hansen‐Kiss, E., Sadée, W., & Herman, G. E. (2014) · Autism Research · doi:10.1002/aur.1383 · Cited by 31
“However, the rarity of these putative causative variants, often arising de novo [O’Roak et al., 2011, 2012] or demonstrating incomplete penetrance [Morrow et al., 2008; Yu et al., 2013], requires additional sources of genetic risk to account for ASD etiology.”
BackgroundTabet, A., Leroy, C., Dupont, C., Serrano, E., Hernandez, K., Gallard, J., Pouvreau, N., Gadisseux, J., Benzacken, B., & Verloès, A. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36619 · Cited by 31
“Among these, they found a de novo p.Leu282Pro mutation in TBL1XR1 in a child with ASD and ID, not otherwise described [O’Roak et al., 2012b].”
BackgroundAutism Linked to Increased Oncogene Mutations but Decreased Cancer Rate
Darbro, B. W., Singh, R., Zimmerman, M. B., Mahajan, V. B., & Bassuk, A. G. (2016) · PLoS ONE · doi:10.1371/journal.pone.0149041 · Cited by 31
Chen, L., Zhou, A. S., & West, A. E. (2017) · Journal of Neurophysiology · doi:10.1152/jn.00067.2017 · Cited by 35
“…hit in two large GWAS studies, focused rescreening of additional patient samples led to the estimation that CHD8 is one of a set of just six genes (CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1) that contribute to as many as 1% of sporadic ASDs (Iossifov et al. 2014; O’Roak et al. 2012a).”
BackgroundGenetics of Autism Spectrum Disorders
Rutter, M., & Thapar, A. (2014) · Handbook of Autism and Pervasive Developmental Disorders, Fourth Edition · doi:10.1002/9781118911389.hautc17 · Cited by 31
Gao, Y., Shonai, D., Trn, M., Zhao, J., Soderblom, E. J., Garcia-Moreno, S. A., Gersbach, C. A., Wetsel, W. C., Dawson, G., Velmeshev, D., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-51037-x · Cited by 33
Glutamatergic candidate genes in autism spectrum disorder: an overview
Chiocchetti, A. G., Bour, H. S., & Freitag, C. M. (2014) · Journal of Neural Transmission · doi:10.1007/s00702-014-1161-y · Cited by 31
Li, J., You, Y., Yue, W., Jia, M., Yu, H., Lu, T., Wu, Z., Ruan, Y., Wang, L., & Zhang, D. (2015) · PLoS ONE · doi:10.1371/journal.pone.0142887 · Cited by 30
“Moreover, a whole exome resequencing study identified rare de novo alleles of CACNA1D and CACNA1E as "top de novo risk mutations" for autism [40].”
BackgroundA common molecular signature in ASD gene expression: following Root 66 to autism
Díaz-Beltrán, L., Esteban, F. J., & Wall, D. P. (2016) · Translational Psychiatry · doi:10.1038/tp.2015.112 · Cited by 30
Genetic susceptibility in obsessive-compulsive disorder
Fernandez, T. V., Leckman, J. F., & Pittenger, C. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00049-1 · Cited by 34
SENP1 in the Retrosplenial Agranular Cortex Regulates Core Autistic-Like Symptoms in Mice
Yang, K., Shi, Y., Du, X., Wang, J., Zhang, Y., Shan, S., Yuan, Y., Wang, R., Zhou, C., Liu, Y., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109939 · Cited by 32
Sanders, B., D’Andrea, D., Collins, M. O., Rees, E., Steward, T. G. J., Zhu, Y., Chapman, G., Legge, S. E., Pardiñas, A. F., Harwood, A. J., et al. (2022) · Nature Communications · doi:10.1038/s41467-021-27601-0 · Cited by 34
Calcium signaling in neurodevelopment and pathophysiology of autism spectrum disorders
Pourtavakoli, A., & Ghafouri‐Fard, S. (2022) · Molecular Biology Reports · doi:10.1007/s11033-022-07775-6 · Cited by 32
“Moreover, a whole exome resequencing study has reported de novo rare alleles in α subunit loci CACNA1D and CACNA1E as the most important de novo risk mutations for ASD [54].”
BackgroundWang, S., Wu, C., Hsu, L., Lin, M., Chen, P., Thompson, W. K., & Fan, C. C. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01753-x · Cited by 30
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
Wang, J., Yu, J., Wang, M., Zhang, L., Yang, K., Du, X., Wu, J., Wang, X., Li, F. R., & Qiu, Z. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.06.025 · Cited by 30
Kukharsky, M. S., Quintiero, A., Matsumoto, T., Matsukawa, K., An, H., Hashimoto, T., Iwatsubo, T., Buchman, V. L., & Shelkovnikova, T. A. (2015) · Molecular Neurodegeneration · doi:10.1186/s13024-015-0014-y · Cited by 29
“Mutations in components of the BAF complex have been identified in autism, schizophrenia and other neurodevelopmental disorders, arguing that its function is crucial for normal development of the nervous system [10,11].”
BackgroundFedder-Semmes, K. N., & Sabo, S. L. (2015) · Biomolecules · doi:10.3390/biom5043448 · Cited by 31
“Analysis of human genetics, postmortem brain histopathology, and mouse models have all pointed to a role for synapse formation in ASD pathogenesis [114,116–123].”
BackgroundWalker, R. M., Christoforou, A., McCartney, D. L., Morris, S. W., Kennedy, N. A., Morten, P., Anderson, S. M., Torrance, H. S., Macdonald, A., Sussmann, J. E., et al. (2016) · Clinical Epigenetics · doi:10.1186/s13148-016-0171-z · Cited by 33
“3, a region affected by multiple microdeletions that predispose to a number of clinical phenotypes, including schizophrenia [37, 38], autism spectrum disorder (ASD), attention deficit hyperactivity disorder, epilepsy and intellectual disability [39].”
InfluentialWidowati, E. W., Ernst, S., Hausmann, R., Müller‐Newen, G., & Becker, W. B. (2018) · Biology Open · doi:10.1242/bio.032862 · Cited by 30
Hui, K. K., Katayama, Y., Nakayama, K. I., Nomura, J., & Sakurai, T. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.08.001 · Cited by 31
自閉症関連タンパク質CHD8はC/EBPβと協調して脂肪分化を制御する
Kita, Y. (2018) · Institutional Repositories DataBase (IRDB) · Cited by 30
Chromatin regulators, phenotypic robustness, and autism risk
Suliman, R., Ben-David, E., & Shifman, S. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00081 · Cited by 28
CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate
Li, B., Zhao, H., Tu, Z., Yang, W., Han, R., Wang, L., Luo, X., Pan, M., Chen, X., Zhang, J., et al. (2023) · Cell Discovery · doi:10.1038/s41421-023-00525-3 · Cited by 31
Amyotrophic Lateral Sclerosis Genetic Studies
He, J., Mangelsdorf, M., Fan, D., Bartlett, P. F., & Brown, M. A. (2014) · The Neuroscientist · doi:10.1177/1073858414555404 · Cited by 30
Evers, J. M. G., Laskowski, R. A., Bértoli, M., Clayton‐Smith, J., Deshpande, C., Eason, J., Elmslie, F., Flinter, F. A., Gardiner, C. A., Hurst, J. A., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw409 · Cited by 33
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
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
