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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Open accessAbstract
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no previous history of ASD or related phenotypes--so-called sporadic or simplex families--we sequenced all coding regions of the genome (the exome) for parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported. Additionally, we also sequenced the exomes of 50 unaffected siblings corresponding to these new (n = 31) and previously reported trios (n = 19), for a total of 677 individual exomes from 209 families. Here we show that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD. Moreover, 39% (49 of 126) of the most severe or disruptive de novo mutations map to a highly interconnected β-catenin/chromatin remodelling protein network ranked significantly for autism candidate genes. In proband exomes, recurrent protein-altering mutations were observed in two genes: CHD8 and NTNG1. Mutation screening of six candidate genes in 1,703 ASD probands identified additional de novo, protein-altering mutations in GRIN2B, LAMC3 and SCN1A. Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.
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In the citing paper
“Exome sequencing of ASD/ID families has revealed a significant excess of de novo mutations in probands when compared to unaffected siblings and has identified novel candidate genes contributing to the neurological deficits.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
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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 cited source says what the claim attributes to it.
In the citing paper
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“CNVs and SNPs have both been reported to play a major role in autism incidence (36–41).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [39]
In the citing paper
“An analysis of publicly released whole exome sequence data (Iossifov et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) showed a modest trend towards an excess of biallelic, inherited, rare (MAF<1%), protein-altering variants in cases (8/612 ) compared to control siblings (2/419) (p=0.21, Fisher’s exact test, two-tailed) in at least one of the genes we screened (Table S5).”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Hypomorphic, biallelic mutations, combined with CNVs and heterozygous stop mutations (Neale et al., 2012; O’Roak et al., 2012; Sanders et al., 2012) which completely inactivate one of two alleles, suggest that a common theme for ASD mutations in general might be partial loss of gene function and/or dosage sensitivity.”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as O’Roak et al., 2012
In the citing paper
“Together, results from these papers demonstrate a significant role for rare SNVs in genetic liability for ASD”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [49]
In the citing paper
“Exome and whole-genome sequencing studies have estimated at least another ∼6% contribution to ASD7–10,15”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [10]
In the citing paper
“and three other recent studies by Sanders et al.8, O’Roak et al.7 and Neale et al.23 (65 genes combined from all three; referred to as ‘SON-exomes’);”
From Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism (2014) · cites this paper as [7]
In the citing paper
“Genetic investigations in ASD have constructed seed-based networks with literature-curated PPIs to identify the convergence of ASD risk genes71,73.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“This approach was applied to identify a highly interconnected PPI subnetwork among rare de novo variants in ASD71.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [71]
In the citing paper
“Many strong neurobiological candidates have emerged from the genes disrupted by de novo mutations in these studies, including mutations in previously identified ASD/ID genes.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“We note that the strongest effects are observed for de novo loss-of-function (or truncating) mutations”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“New exome sequencing technology has identified novel rare variants and has found that sporadic cases of ASD/ID are enriched for disruptive de novo mutations.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“Another striking candidate is DYRK1A (dual-specificity tyrosine phosphorylation-regulated kinase 1A), for which three truncating mutations have been discovered in autism probands [24,44] and de novo structural variants in ID probands [54,55].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“In summary, only three genes [CHD8, SCN2A, and synaptic Ras GTPase activating protein 1 (SYNGAP1)] had two independent truncating de novo mutations in any single study, and no gene had more than three mutations.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“one de novo frameshift of ARID1B was found in a sporadic ASD case [24]”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [24]
In the citing paper
“In the case of paternal age, one mediating mechanism lies in the increased rate of de novo SNV and CNV with advancing paternal age (22,24,25,43,44).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [25]
In the citing paper
“TBR1 has been implicated in ASD (21,22,25,26) and ID (73).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [25]
In the citing paper
“Qualitatively, recent studies of rare variants also find it challenging to distinguish risk variation from the background stochastic noise (12–15).”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [13]
In the citing paper
“De novo loss of function mutations in this gene had previously been identified in two patients by WES2 and targeted resequencing16 of patients with ASD. In those studies however, causal relationship did not reach locus-specific significance.”
From A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (2014) · cites this paper as [2]
In the citing paper
“Albeit rare, de novo mutations have emerged as substantial contributors to ASD risk [83, 165, 166, 254, 261, 309].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [261]
In the citing paper
“Chromodomain helicase DNA-binding protein 8 (CHD8), encoding a chromatin modifying gene on chromosome 14q11.2, is one of the high-penetrance ASD risk genes recently identified by sequencing studies [83, 165, 261, 347].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [261]
In the citing paper
“no truncating coding-sequence variation within SHANK1 and SHANK3”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [36]
In the citing paper
“Recent exome sequencing studies only reported one de novo SHANK2 mutation out of 965 patients [32], [36], [37]”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [36]
In the citing paper
“estimates from de novo exonic mutations (similar to those from SV data) suggest that ASD is highly polygenic (estimates ranged from 400–1000 genes). 84,85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Three recent papers describe the results from exome sequencing of ~600 trios, and identify roles for de novo exonic mutations in SCN2A, KATNAL2, and CHD8 in the pathogenesis of ASD. 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Intriguingly, all three studies noted an increased rate of de novo exonic mutations in older parents (with the mutations generally being of paternal origin), 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“However, a central finding from these papers was that only a minority of cases had a de novo putatively functional variant”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Unexpectedly, simplex and multiplex ASD pedigrees show relatively similar de novo mutation rates for SV 80,81 and exonic variation. 83–85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“Projections for ASD and SCZ suggest that variation at hundreds of different genes will ultimately be shown to be involved. 58,80,85”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
In the citing paper
“The published results for ASD 83–85 and unpublished data on SCZ suggest these issues will be important and underscore the need for sequencing studies to have the same emphasis on statistical rigor and large sample sizes that has enabled GWAS to realize success for multiple psychiatric disorders. 154”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [85]
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A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
Pons, L., Cordier, M. P., Labalme, A., Till, M., Louvrier, C., Schluth‐Bolard, C., Lesca, G., Edery, P., & Sanlaville, D. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36759 · Cited by 44
“The authors identified a de novo TBL1XR1mutation (p.Leu282Pro) in a patient with ASD and severe ID (performance IQ 47), by the exome screening of 209 parent-child trios displaying sporadic autism[O’Roak et al., 2012b].”
BackgroundReducing age of autism diagnosis: developmental social neuroscience meets public health challenge.
Klin, A., Klaiman, C., & Jones, W. (2015) · PubMed · Cited by 39
Song, Y. S., Lee, H., Prosselkov, P., Itohara, S., & Kim, E. (2013) · Journal of Cell Science · doi:10.1242/jcs.129718 · Cited by 40
“Netrin-G1 has been associated with Rett syndrome, autism spectrum disorders, schizophrenia, and bipolar disorder (Borg et al., 2005; Eastwood and Harrison, 2008; O’Roak et al., 2012).”
BackgroundCopy number variation and autism: New insights and clinical implications
Chung, B. H., Tao, V. Q., & Tso, W. W. Y. (2013) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2013.01.005 · Cited by 42
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
Şener, E. F., Canatan, H., & Özkul, Y. (2016) · Psychiatry Investigation · doi:10.4306/pi.2016.13.3.255 · Cited by 42
Donaldson, C. K., Stauder, J. E. A., & Donkers, F. C. L. (2016) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-2888-0 · Cited by 44
“, SPX) (O’Roak et al. 2012; Sebat et al. 2007), others might be due to the inheritance of ASD-related genes producing familial cases of ASD (i.”
BackgroundPten loss results in inappropriate excitatory connectivity
Skelton, P. D., Frazel, P. W., Lee, D., Suh, H., & Luikart, B. W. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0412-6 · Cited by 43
Stem Cell Proliferation Is Kept in Check by the Chromatin Regulators Kismet/CHD7/CHD8 and Trr/MLL3/4
Gervais, L., van den Beek, M., Josserand, M., Sallé, J., Stefanutti, M., Perdigoto, C. N., Skorski, P., Mazouni, K., Marshall, O. J., Brand, A. H., et al. (2019) · Developmental Cell · doi:10.1016/j.devcel.2019.04.033 · Cited by 41
“CHD8mutations are associated with neurodevelopmental defects in autism spectrum disorders (Neale et al., 2012; O’Roak et al., 2012; Talkowski et al., 2012).”
BackgroundDu, Y., Li, Z., Liu, Z., Zhang, N., Wang, R., Li, F., Zhang, T., Jiang, Y., Zhi, X., Wang, Z., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0610-2 · Cited by 40
Neurobiological roots of psychopathy
Tiihonen, J., Koskuvi, M., Lähteenvuo, M., Virtanen, P. L. J., Ojansuu, I., Vaurio, O., Gao, Y., Hyötyläinen, I., Puttonen, K. A., Repo‐Tiihonen, E., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0488-z · Cited by 40
Chromatin Remodeler CHD8 in Autism and Brain Development
Hoffmann, A., & Spengler, D. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10020366 · Cited by 41
“Interestingly, patients with de novo mutation in CHD8 frequently exhibited an unusual large head circumference [17,19].”
BackgroundSantos, J. X., Rasga, C., Marques, A. R., Martiniano, H., Asif, M., Vilela, J. E. R., Oliveira, G., Sousa, L., Nunes, A., & Vicente, A. M. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.862315 · Cited by 46
Protocadherins in Neurological Diseases
Hirabayashi, T., & Yagi, T. (2013) · Advances in neurobiology · doi:10.1007/978-1-4614-8090-7_13 · Cited by 40
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
Khalil, R., Kenny, C., Hill, R. S., Mochida, G. H., Nasir, R., Partlow, J. N., Barry, B. J., Al‐Saffar, M., Egan, C., Stevens, C. R., et al. (2018) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32688 · Cited by 39
Peroxisome proliferator-activated receptor α as a novel therapeutic target for schizophrenia
Wada, Y., Maekawa, M., Ohnishi, T., Balan, S., Matsuoka, S., Iwamoto, K., Iwayama, Y., Ohba, H., Watanabe, A., Hisano, Y., et al. (2020) · EBioMedicine · doi:10.1016/j.ebiom.2020.103130 · Cited by 38
Targeted drug delivery in neurodegenerative diseases: the role of nanotechnology
Dhariwal, R., Jain, M., Mir, Y. R., Singh, A., Jain, B., Kumar, P., Tariq, M., Verma, D., Deshmukh, K., Yadav, V. K., et al. (2025) · Frontiers in Medicine · doi:10.3389/fmed.2025.1522223 · Cited by 47
“…disorders can be attributed to many observed features such as different severe and rare mutations in the same gene in unrelated individuals, different phenotypes observed in different individuals, and mutations in different genes in the same or related pathways may cause the same disorder (54).”
Role of the Axonal Initial Segment in Psychiatric Disorders: Function, Dysfunction, and Intervention
Hsu, J. W.-C., Nilsson, C. L., & Laezza, F. (2014) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2014.00109 · Cited by 41
Ku, C., Tan, E. K., & Cooper, D. N. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101519 · Cited by 41
“…the number of de novo SNVs correlates positively with increasing paternal age; this is consistent with the postulate that the increased risk for children of older fathers to develop ASD is the result of an increased mutation rate with paternal age, 56 an observation also made by Sanders et al .”
BackgroundInfluentialDiagnosis and Management of Autism Spectrum Disorder in the Era of Genomics
Baker, E. J., & Jeste, S. (2015) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2015.03.003 · Cited by 39
“However, recent advances in genetic methods have led to the identification of contributory mutations in up to 30% of children with ASD.(16,17) The first breakthrough technology was the chromosomal microarray analysis (CMA).”
BackgroundUsing genetic findings in autism for the development of new pharmaceutical compounds
Vorstman, J. A. S., Spooren, W. P. J. M., Persico, A. M., Collier, D. A., Aigner, S., Jagasia, R., Glennon, J. C., & Buitelaar, J. K. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3334-z · Cited by 43
Limpitikul, W. B., Dick, I. E., Johny, M. B., & Yue, D. T. (2016) · Scientific Reports · doi:10.1038/srep27235 · Cited by 40
“…position to that found in humans using QuikChange ™ site-directed mutagenesis (Agilent). chromosome The equivalent human mutation was found in patients at A769G in chromosome 3, position 53764493 30 and corresponds to the A749G mutation previously described in an alternate human splice variant 31 .”
InfluentialGene-set analysis shows association between FMRP targets and autism spectrum disorder
Jansen, A. G., Dieleman, G. C., Smit, A. B., Verhage, M., Verhulst, F. C., Polderman, T. J. C., & Posthuma, D. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.55 · Cited by 40
Medina, M. A., Andrade, V., Caracci, M. O., Ávila, M. E., Verdugo, D. A., Vargas, M. F., Ugarte, G. D., Reyes, A. E., Opazo, C., & Ferrari, G. V. D. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0093-y · Cited by 40
“This hypothesis has received considerable attention recently, mainly since it has been observed that 39% of the more disruptive de novo mutations in ASD family trios were found within interconnected networks containing chromatin remodeling, synaptic, and Wnt/β-catenin signaling genes.(41,42) Likewise, integration of R…”
BackgroundCampbell, N. G., Shekar, A., Aguilar, J. I., Peng, D., Navratna, V., Yang, D., Morley, A. N., Duran, A. M., Galli, G., O’Grady, B. J., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1816247116 · Cited by 38
“Exome capture, sequencing, data processing, and variant calling were conducted as described previously (15, 16).”
MethodThe NuRD complex and macrocephaly associated neurodevelopmental disorders
Pierson, T. M., Otero, M. G., Grand, K., Choi, A., Graham, J. M., Young, J. I., & Mackay, J. P. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31752 · Cited by 39
“Furthermore, CHD8 has been linked with a dominantly inherited autism, as well as a dominant OGID syndrome with associated macrocephaly (Douzgou et al., 2019; O'Roak et al., 2012; Ostrowski et al., 2019; Tatton-Brown et al., 2017).”
BackgroundThe ADNP Syndrome and CP201 (NAP) Potential and Hope
Gozes, I. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.608444 · Cited by 39
“(Nmnat1) (50), (3) speech acquisition Foxp1/Foxp2 tongue expression, (4) bladder”
BackgroundMorgan, J. R., Comstra, H. S., Cohen, M., & Faúndez, V. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016915 · Cited by 39
“Single copy loss or mutation of the neuronal AP-3 subunit (AP3B2) is associated with schizophrenia and autism spectrum disorders (Gokhale et al. 2012; O’Roak et al. 2012).”
BackgroundSpontaneous de novo germline mutations in humans and mice: rates, spectra, causes and consequences
Ohno, M. (2018) · Genes & Genetic Systems · doi:10.1266/ggs.18-00015 · Cited by 38
The Role of Zinc and NMDA Receptors in Autism Spectrum Disorders
Lee, K. C., Mills, Z., Cheung, P. Y., Cheyne, J. E., & Montgomery, J. M. (2022) · Pharmaceuticals · doi:10.3390/ph16010001 · Cited by 42
Yauk, C. L., Lambert, I. B., Meek, M. E., Douglas, G. R., & Marchetti, F. (2015) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21954 · Cited by 38
“Each child inherits, on average, approximately one de novo mutation per 100 million nucleotides delivered via the parental egg and sperm [Roach et al., 2010; Conrad et al., 2011; Kong et al., 2012; O’Roak et al., 2012].”
BackgroundRare deleterious mutations of the gene EFR3A in autism spectrum disorders
Gupta, A. R., Pirruccello, M., Cheng, F., Kang, H., Fernandez, T. V., Baskin, J. M., Choi, M., Liu, L., Ercan‐Sencicek, A. G., Murdoch, J. D., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-31 · Cited by 35
“detecting and scoring HEAT repeats was also used [6].”
BackgroundMethodWerling, D. M., Lowe, J. K., Luo, R., Cantor, R. M., & Geschwind, D. H. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-13 · Cited by 42
“In contrast, since the FC group includes affected brothers of autistic girls, FC signals are best interpreted not as female-specific, but as female-affecting risk loci, in accord with a hypothesis that only a subset of ASD risk loci are penetrant in females [7,9-13,65].”
BackgroundResultThe best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease
Williams, A. J., & Umemori, H. (2014) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2014.00004 · Cited by 38
The phenotypic manifestations of rare genic CNVs in autism spectrum disorder
Merikangas, A. K., Segurado, R., Heron, E. A., Anney, R., Paterson, A. D., Cook, E. H., Pinto, D., Scherer, S. W., Szatmári, P., Gill, M., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.150 · Cited by 41
A Role for the Chromatin‐Remodeling FactorBAZ1Ain Neurodevelopment
Zaghlool, A., Halvardson, J., Zhao, J., Etemadikhah, M., Kalushkova, A., Końska, K., Jernberg‐Wiklund, H., Thuresson, A., & Feuk, L. (2016) · Human Mutation · doi:10.1002/humu.23034 · Cited by 37
Polycomb and trithorax opposition in development and disease
Poynter, S. T., & Kadoch, C. (2016) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.244 · Cited by 43
“Several core components of the BAF complex including BAF155, BAF170, and BAF180, have also recently been identified in large scale de novo mutation analyses.(212,213) Intriguingly, the lesser-studied CHD family proteins, CHD7 and CHD8, have also been implicated in autism pathogenesis.”
BackgroundLoviglio, M. N., Arbogast, T., Jønch, A. E., Collins, S. C., Popadin, K. Y., Bonnet, C. S., Giannuzzi, G., Maillard, A. M., Jacquemont, S., Yalcin, B., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.08.016 · Cited by 39
Conserved properties of Drosophila Insomniac link sleep regulation and synaptic function
Li, Q., Kellner, D. A., Hatch, H. A. M., Yumita, T., Sanchez, S., Machold, R. P., Frank, C. A., & Stavropoulos, N. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006815 · Cited by 36
Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome
Li, J., Brickler, T., Banuelos, A. M., Marjon, K. D., Shcherbina, A., Banerjee, S., Bian, J. T., Narayanan, C., Weissman, I. L., & Chetty, S. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2005483118 · Cited by 38
Doldur-Balli, F., Imamura, T., Veatch, O. J., Gong, N. N., Lim, D. C., Hart, M. P., Abel, T. G., Kayser, M. S., Brodkin, E. S., & Pack, A. I. (2022) · Sleep Medicine Reviews · doi:10.1016/j.smrv.2022.101595 · Cited by 46
Rare variants and the oligogenic architecture of autism
Wang, T., Zhao, P. A., & Eichler, E. E. (2022) · Trends in Genetics · doi:10.1016/j.tig.2022.03.009 · Cited by 37
Self-citationGarcía‐Junco‐Clemente, P., Chow, D. K., Tring, E., Lázaro, M. T., Trachtenberg, J. T., & Golshani, P. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1309207110 · Cited by 40
“Previous studies have identified cortical dendritic and synaptic changes induced following double-copy loss of Pten (5, 7, 8), yet far less is known about how single-copy loss of Pten, as would occur with inherited or de novo mutations in humans (29), impacts the structure and function of the nervous system.”
BackgroundGrand-paternal age and the development of autism-like symptoms in mice progeny
Sampino, S., Juszczak, G. R., Zacchini, F., Swiergiel, A. H., Modlinski, J. A., Loi, P., & Ptak, G. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.27 · Cited by 41
Matsunami, N., Hensel, C. H., Baird, L. M., Stevens, J., Otterud, B., Leppert, M., Varvil, T., Hadley, D., Glessner, J., Pellegrino, R., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-5 · Cited by 38
Chen, C., Chen, M., Su, Y., Huang, J., Chern, S., Wu, P.-S., Su, J.-W., Chang, S., Chen, Y., Lee, C., et al. (2013) · Gene · doi:10.1016/j.gene.2013.07.048 · Cited by 37
Self-citationMurakami, Y., Imamura, Y., Kasahara, Y., Yoshida, C., Momono, Y., Fang, K., Sakai, D., Konishi, Y., & Nishiyama, T. (2023) · Cells · doi:10.3390/cells12071087 · Cited by 36
Cho, H., Yoo, T., Moon, H., Kang, H., Yang, Y., Kang, M., Yang, E., Lee, D., Hwang, D., Kim, H., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02129-5 · Cited by 36
Grice, S. J., Liu, J., & Webber, C. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1004998 · Cited by 38
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Tønne, E., Holdhus, R., Stansberg, C. T., Stray‐Pedersen, A., Petersen, K., Brunner, H. G., Gilissen, C., Hoischen, A., Prescott, T., Steen, V. M., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.30 · Cited by 36
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
Dinwiddie, D. L., Bracken, J. M., Bass, J., Christenson, K. M., Soden, S. E., Saunders, C., Miller, N., Singh, V., Zwick, D. L., Roberts, C. C., et al. (2013) · Genomics · doi:10.1016/j.ygeno.2013.08.008 · Cited by 38
Neurogenomics of speech and language disorders: the road ahead
Deriziotis, P., & Fisher, S. E. (2013) · Genome biology · doi:10.1186/gb-2013-14-4-204 · Cited by 38
“similar approaches to screen trios or quads (trio plus unaffected siblings), including four large-scale wholeexome sequencing efforts across about 1,000 ASD families [68-72] (reviewed by Buxbaum et al.”
BackgroundVelmeshev, D., Magistri, M., Mazza, E. M. C., Lally, P., Khoury, N., D’Elia, E. R., Bicciato, S., & Faghihi, M. A. (2020) · Molecular Neurobiology · doi:10.1007/s12035-020-01879-5 · Cited by 39
“These included high-confidence ASD-associated gene ANK2 [31], as well as SNAP25 [32] and CTNNB1 [33], genetic variation in which has been reported in ASD patients.”
BackgroundInfluentialGenetic Influences on Disease Subtypes
Dahl, A. W., & Zaitlen, N. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120319-095026 · Cited by 36
Excitatory neuronal CHD8 in the regulation of neocortical development and sensory-motor behaviors
Kweon, H., Jung, W. B., Im, G. H., Ryoo, J., Lee, J.-H., Do, H., Choi, Y., Song, Y.-H., Jung, H., Park, H., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108780 · Cited by 36
Exploring the “Other” subfamily of HECT E3-ligases for therapeutic intervention
Singh, S., Ng, J. D., & Sivaraman, J. (2021) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2021.107809 · Cited by 37
Transcriptional Dysregulation of Neocortical Circuit Assembly in ASD
Kwan, K. Y. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-418700-9.00006-x · Cited by 39
“…methodologies to analyze well-characterized populations of patients and families (Iossifov et al., 2012; Jiang et al., 2013; Neale et al., 2012; O’Roak et al., 2012a; O’Roak et al., 2012b; Sanders et al., 2011; Sanders et al., 2012; Sebat et al., 2007; Talkowski et al., 2012; Weiss et al., 2003).”
BackgroundMethodInfluentialIdentifying Genes Responsible for Intellectual Disability in Consanguineous Families
Iqbal, Z., & van Bokhoven, H. (2014) · Human Heredity · doi:10.1159/000360539 · Cited by 39
McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · doi:10.1101/049056 · Cited by 30
Neurodevelopmental disorders and genetic testing: Current approaches and future advances
Sherr, E. H., Michelson, D. J., Shevell, M. I., Moeschler, J. B., Gropman, A. L., & Ashwal, S. (2013) · Annals of Neurology · doi:10.1002/ana.23950 · Cited by 36
“The ASD cohorts included families with 1 affected and 1 unaffected child.(13,15,41,42) This approach allowed investigators not only to identify de novo mutations, but also to compare the rate of mutations in the exomes of healthy and affected siblings (no change in overall de novo mutation rate).”
BackgroundAutism and EMF? Plausibility of a pathophysiological link – Part I
Herbert, M. R., & Sage, C. (2013) · Pathophysiology · doi:10.1016/j.pathophys.2013.08.001 · Cited by 37
“With the rising numbers people with ASCs and other childhood health and developmental disorders, and with the challenges to our prior assumptions posed ever more strongly by emerging evidence, we need to look for and act upon risk factors that are largely avoidable or preventable.”
Gstir, R., Schafferer, S., Scheideler, M., Misslinger, M., Griehl, M., Daschil, N., Humpel, C., Obermair, G. J., Schmuckermair, C., Striessnig, J., et al. (2014) · RNA · doi:10.1261/rna.047225.114 · Cited by 36
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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