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1 Exome sequencing in sporadic autism spectrum ... - Nature
https://www.nature.com/articles/ng.835
Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de ...
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2 Exome sequencing analysis of Japanese autism spectrum ...
https://www.nature.com/articles/s41398-022-02033-6
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related ...
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3 Fruits of exome sequencing for autism - Nature
https://www.nature.com/articles/nrg3248
A clutch of recent papers have harnessed exome sequencing to study the contribution of single-nucleotide variants to the risk of autism ...
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4 Rare coding variation provides insight into the genetic ...
https://www.nature.com/articles/s41588-022-01104-0
Satterstrom, F. K. et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism.
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5 Integrating de novo and inherited variants in 42,607 autism ...
https://www.nature.com/articles/s41588-022-01148-2
We identified 60 genes with exome-wide significance (P < 2.5 × 10−6), including five new risk genes (NAV3, ITSN1, MARK2, SCAF1 and HNRNPUL2).
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6 Genome-wide detection of tandem DNA repeats that ... - Nature
https://www.nature.com/articles/s41586-020-2579-z
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. J. Am. Med.
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7 Recent ultra-rare inherited variants implicate new autism ...
https://www.nature.com/articles/s41588-021-00899-8
Based on our sample size, private variants were ultra-rare in nature and corresponded to an approximate allele frequency ≤7 × 10−5. We ...
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8 De novo mutations revealed by whole-exome ... - Nature
https://www.nature.com/articles/nature10945
Rare de novo single nucleotide variants in brain-expressed genes are found to be associated with autism spectrum disorders and to carry ...
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9 Unlocking the secrets of autism through whole-exome ... - Nature
https://www.nature.com/articles/nrneurol.2012.82
In three studies, published in Nature, researchers used whole-exome sequencing to show that de novo single nucleotide variants (SNVs) in brain- ...
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10 An integrated analysis of rare CNV and exome variation in ...
https://www.nature.com/articles/s41598-020-59922-3
Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368–372 (2010). Article ADS ...
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11 Statistical and functional convergence of common and rare ...
https://www.nature.com/articles/s41588-022-01203-y
In contrast, 16p does not have a significant excess of genes implicated in autism from exome associations studies (P = 0.44; Supplementary Fig.
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12 Whole exome sequencing reveals inherited and de novo ...
https://www.nature.com/articles/s41598-017-06033-1
O'Roak, B. J. et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature genetics 43, 585–589, ...
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13 Exome sequencing identifies de novo splicing variant in ...
https://www.nature.com/articles/s10038-019-0707-0
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012;485:246–50. PubMed PubMed Central CAS ...
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14 Whole genome sequencing resource identifies 18 new ...
https://www.nature.com/articles/nn.4524
et al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. J. Am ...
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15 Towards a molecular characterization of autism spectrum ...
https://www.nature.com/articles/tp201438
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485: 237–241. Article CAS PubMed PubMed ...
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16 Genome-wide rare variant score associates with ... - Nature
https://www.nature.com/articles/s41467-022-34112-z
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. J. Am. Med.
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17 Whole-genome deep-learning analysis identifies contribution ...
https://www.nature.com/articles/s41588-019-0420-0
Sanders, S. J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237–241 (2012).
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18 Genetic correlates of phenotypic heterogeneity in autism
https://www.nature.com/articles/s41588-022-01072-5
We conducted a comprehensive factor analysis of core autism features in autistic individuals and identified six factors. Common genetic variants ...
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19 De novo mutations revealed by whole-exome ... - PubMed
https://pubmed.ncbi.nlm.nih.gov/22495306/
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.
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20 Large-Scale Exome Sequencing Study Implicates ... - Cell Press
https://www.cell.com/cell/pdf/S0092-8674(19)31398-4.pdf
ject to natural selection. Inherited variation has survived at least. Caroline Dias,22,23 Autism Sequencing Consortium, and iPSYCH-Broad ...
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21 Exome sequencing for autism | Nature Genetics
https://www.natureasia.com/en/life-sci/research/1215
Sequencing of the exome ― the protein-coding regions of the genome ― of individuals with autism spectrum disorders is reported this week in ...
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22 Largest Study to Date Identifies New Autism Genes
https://www.cmu.edu/dietrich/news/news-stories/2022/august/roeder-nature-genetics.html
18 issue of the journal Nature Genetics. The study examined the genomes of more than 150,000 participants. Of this group, 20,000 have been ...
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23 Exome sequencing of extended families with autism reveals ...
https://molecularautism.biomedcentral.com/articles/10.1186/2040-2392-5-1
Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative ...
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24 Ultra-rare variants point to new autism candidate genes
https://www.spectrumnews.org/news/ultra-rare-variants-point-to-new-autism-candidate-genes/
The study appeared today in Nature Genetics. The newly linked genes harbor ultra-rare inherited genetic variants — alterations to the genome ...
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25 Rare variants in the outcome of social skills group training for ...
https://onlinelibrary.wiley.com/doi/pdf/10.1002/aur.2666
autism spectrum disorder, exome sequencing, genetic testing, ... common genetic risk variants for autism spectrum disorder. Nature.
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26 Nature Neuroscience в Twitter: „#Exome sequencing in ...
https://twitter.com/natureneuro/status/1199040256881954816?lang=bg
#Exome sequencing in children with #autism spectrum disorder (#ASD) and/or attention-deficit/hyperactivity disorder (#ADHD) shows increased ...
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27 Whole-exome sequencing and neurite outgrowth analysis in ...
https://www.nips.ac.jp/fmritms/publications/upload/images/HashimotoR2016JHG.pdf
The contribution of de novo coding mutations to autism spectrum disorder. Nature 515,. 216–221 (2014). 2 De Rubeis, S., He, X., Goldberg, A. P., ...
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28 Inherited and De Novo Genetic Risk for Autism Impacts ...
https://escholarship.org/content/qt36f811zq/qt36f811zq_noSplash_d56b81624897b1e685aef8dbd24024dd.pdf
De novo mutations revealed by whole-exome sequencing are · strongly associated with autism. Nature 485, 237–241. Sanders, S.J., He, X., Willsey, ...
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29 World's largest autism genome database shines new light on ...
https://www.autismspeaks.org/press-release/worlds-largest-autism-genome-database-shines-new-light-many-autisms
The new report appears this week in the journal Nature Neuroscience. It involved the analysis of 5,205 whole genomes from families affected by autism ...
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30 Genetic Causes and Modifiers of Autism Spectrum Disorder
https://www.frontiersin.org/articles/10.3389/fncel.2019.00385/full
Because of the broad nature of these definitions, an ASD diagnosis often co-occurs with other conditions. Motor abnormalities (79%), ...
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31 Autism Spectrum Disorder Studies Uncover Additional Genetic ...
https://www.genomeweb.com/sequencing/autism-spectrum-disorder-studies-uncover-additional-genetic-risk-variants
In one paper appearing in Nature Genetics, Chung and colleagues identified ... They combined exome sequencing data from 33 different autism ...
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32 New SPARK study identifies a novel group of inherited genes ...
https://www.sciencedaily.com/releases/2022/08/220818122341.htm
In a series of articles published in the journal Nature Genetics, researchers used data from the SPARK (Simons Powering Autism Research) ...
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33 Analysis of the chromosome X exome in patients with autism ...
https://www.ceepal.com.uy/autismo2.pdf
www.nature.com/tp ... previously included in Autism Genome Project (AGP, http:// ... Analysis of chromosome X exome in autism. C Nava et al.
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34 2017 IACC Strategic Plan for Autism Spectrum Disorder ...
https://iacc.hhs.gov/publications/strategic-plan/2017/question3.shtml
Recent whole genome sequencing studies of a large diverse ASD collection revealed ... by whole-exome sequencing are strongly associated with autism. Nature.
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35 Unraveling autism one de novo mutation at a time
https://www.future-science.com/doi/pdf/10.2144/000113920
autism. Identifying these rare mutations is important as they may occur in ... in Nature (5) connected the number of ... autism exome studies has less to do.
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36 Large genetic study links 72 genes to autism spectrum disorders
https://www.mdedge.com/neurology/article/257330/neurodevelopmental-disorders/large-genetic-study-links-72-genes-autism
FROM NATURE GENETICS. Researchers have identified 72 genes very strongly linked to autism spectrum disorders and more than 250 other genes ...
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37 Diagnosis and Management of Autism Spectrum Disorder in ...
http://jestelab.org/wp-content/uploads/2015/11/Era-Genomics-PCNA-Published.pdf
Copy number variants Chromosomal microarray Whole-exome sequencing ... Common phenotypes and natural history studies within genetic syndromes can help to.
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38 [PDF] De novo mutations revealed by whole-exome ...
https://www.researchgate.net/publication/223976610_De_novo_mutations_revealed_by_whole-exome_sequencing_are_strongly_associated_with_autism
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. April 2012; Nature 485(7397):237-41.
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39 Exome sequencing in sporadic autism spectrum disorders ...
https://pure.mpg.de/rest/items/item_898575_14/component/file_909590/content
Height, weight, head. Nature Genetics: doi:10.1038/ng.835. Page 3. 3 circumference, and DNA via blood sample were collected from all participating family ...
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40 Systematic reconstruction of autism biology from massive ...
https://www.science.org/doi/10.1126/sciadv.1701799
Devlin, M. W. State, De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237–241 (2012).
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41 Using whole-exome sequencing to identify inherited causes of ...
https://europepmc.org/article/pmc/pmc3694430
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics. 2011;43:585–589. [Europe PMC free article] ...
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42 New autism genes discovered | Carver College of Medicine
https://medicine.uiowa.edu/content/new-autism-genes-discovered
... nearly 43000 autistic individuals and their families has identified 60 autism spectrum-associated genes with exome-wide significance, ...
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43 Publications - Sanders Lab
https://sanderslab.github.io/publications/
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Werling et al. Nature Genetics ...
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44 Genome-Wide Association Studies of Autism | SpringerLink
https://link.springer.com/article/10.1007/s40473-014-0023-0
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;485:237–41.
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45 DeRubeis S, et al. (2014) Synaptic, transcriptional and ...
https://hscrb.harvard.edu/publication/derubeis-s-et-al-2014-synaptic-transcriptional-and-chromatin-genes-disrupted-in-autism-nature/
The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome ...
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46 Recent ultra-rare inherited mutations identify novel autism ...
https://www.biorxiv.org/content/10.1101/2020.02.10.932327v1.full.pdf
1Department of Genome Sciences, University of Washington School of Medicine, ... allele frequency ≤ 7e-5 and are ultra-rare in nature.
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47 Whole Exome Sequencing in Females with Autism Implicates ...
https://www.mdpi.com/1422-0067/16/1/1312
Classical autism or autistic disorder belongs to a group of genetically heterogeneous conditions known as Autism Spectrum Disorders (ASD).
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48 Whole-genome sequencing of quartet families with autism ...
https://www.gwern.net/docs/algernon/2015-yuen.pdf
NATURE MEDICINE ADVANCE ONLINE PUBLICATION ... Exome sequencing in multiplex autism families suggests a major.
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49 More Articles - American Society of Human Genetics
https://www.springernature.com/gp/researchers/events/ashg/more-articles
Genetics and epigenetics of autism spectrum disorder—current evidence in the field ... Exome sequencing of 457 autism families recruited online provides ...
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50 New Study Identifies How A Group Of Genes Are Linked To ...
https://www.forbes.com/sites/jenniferpalumbo/2022/08/18/new-study-identifies-how-a-group-of-genes-are-linked-to-behavioral-conditions/
In a series of articles published in Nature Genetics, researchers used data from the SPARK (Simons Powering Autism Research) to show ...
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51 Genetic correlates of phenotypic heterogeneity in autism
https://www.medrxiv.org/content/10.1101/2020.07.21.20159228v2.full
Now published in Nature Genetics doi: 10.1038/s41588-022-01072-5 ... A genome-wide association study of autism using the Simons Simplex ...
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52 Biological implications of genetic variations in autism ...
https://portlandpress.com/bioscirep/article/229227/Biological-implications-of-genetic-variations-in
The clinical implementation of trio exome sequencing has shown a ... The contribution of de novo coding mutations to autism spectrum disorder . Nature.
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53 Translating genetic and preclinical findings into autism therapies
https://www.tandfonline.com/doi/full/10.31887/DCNS.2017.19.4/cmanzini
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder ... regions of the genome, termed whole exome sequencing (WES), ...
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54 Exome sequencing in sporadic autism spectrum ... - Ex Libris
https://rmit.alma.exlibrisgroup.com/discovery/openurl?institution=61RMIT_INST&rfr_id=info:sid%252Fprimo.exlibrisgroup.com-bX-Bx&rft_val_fmt=info:ofi/fmt:kev:mtx:&rft.epage=9&rft.volume=43&rft_id=info:doi/&rfr_id=info:sid/primo.exlibrisgroup.com-49069475-Bx&resource_type=article&rft.isbn_list=&rft.jtitle=Nature%20Genetics&rft.genre=article&rft.issue=6&rft.auinit1=B&rft.aulast=O'Roak&rft.auinit=B%20J&rft.date=2011-05&rft.eisbn_list=&rft.spage=585&rft.au=O'Roak,%20Brian%20J&rft.atitle=Exome%20sequencing%20in%20sporadic%20autism%20spectrum%20disorders%20identifies%20severe%20de%20novo%20mutations.&rft.issn=1061-4036&rft.eissn=1546-1718&svc_dat=CTO&vid=61RMIT_INST:RMITU
Nature genetics. , 2011, Vol.43(6), p.585-9 ,. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Available Online ...
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55 Autism Spectrum Disorder, Family Health History, and Genetics
https://www.cdc.gov/genomics/disease/autism.htm
If someone in your family has autism spectrum disorder (ASD), ... If CMA and genetic testing do not find a cause for ASD, whole exome sequencing might be ...
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56 Genetic research in autism spectrum disorders
https://journals.lww.com/co-pediatrics/_layouts/15/oaks.journals/downloadpdf.aspx?an=00008480-201512000-00006
autism, exome sequencing, genetics, GWAS ... Autism spectrum disorders (ASDs) are serious neuro- ... Genetic variants differ in nature and in the fre-.
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57 Recessive gene disruptions in autism spectrum disorder
https://walshlab.org/wp-content/uploads/2021/10/31209396.pdf
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237–241 (2012). 9. Iossifov, I. et al. De novo gene ...
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58 Synaptic, transcriptional and chromatin genes disrupted in ...
https://www.genome.gov/Pages/Research/DIR/nature13772.pdf
The genetic architecture of autism spectrum disorder involves the ... Whole-exome sequencing (WES) studies have proved fruitful in uncov-.
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59 Transcriptome-wide transmission disequilibrium analysis ...
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009309
Author summary Autism spectrum disorder is a neurodevelopmental disorder with ... autism risk genes implicated in exome sequencing studies.
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60 Autism Spectrum Disorder - ASHA
https://www.asha.org/practice-portal/clinical-topics/autism/
Autism spectrum disorder is a neurodevelopmental disorder with deficits in social ... due to the pervasive nature of the social communication impairment.
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61 Whole-genome sequencing in a family with twin boys with ...
http://molecularcasestudies.cshlp.org/content/4/6/a003285.full
This case emphasizes the multifactorial nature of genetic risk underlying most ... Autism spectrum disorder (ASD) is characterized by social communication ...
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62 Autism Spectrum Disorder Genetics and the Search for ...
https://ajp.psychiatryonline.org/doi/10.1176/appi.ajp.2020.20111608
The earliest ASD exome sequencing studies showed that, similar to CNVs ... to ASD and that the nature of the methods for gene discovery may, ...
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63 Brain-expressed exons under purifying selection are enriched ...
https://kidsbrainhealth.ca/wp-content/uploads/2018/03/14-05-25-NatureGenetics-46_7-Scherer.pdf
Nature 466, 368–372 (2010). 4. Sanders, S.J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, ...
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64 Searching in a "Smaller Haystack" Yields Promising Findings ...
https://iancommunity.org/cs/simons_simplex_community/asd_genetic_findings
Autism researchers are taking a similar approach, hoping that a focus on the exome may help them discover autism-causing genetic mutations.
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65 Autism Spectrum Disorders: Insights from Genomics
https://www.intechopen.com/chapters/43441
In this vein, initiatives such as the Autism Genome Project include data from several thousand ... Reprinted with permission from Nature Publishing Group.
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66 Largest study of its kind identifies candidate autism genes
https://jwp-nme.public.springernature.app/en/nmiddleeast/article/10.1038/nmiddleeast.2014.261
S. De Rubeis / Nature Enlarge image ... publishing their findings in Nature. ... Using exome sequencing (selective sequencing of all ...
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67 Outcomes of Diagnostic Exome Sequencing in Patients With ...
https://www.pedneur.com/article/S0887-8994(16)30572-0/pdf
neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large ...
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68 Exome Sequencing in Autistic Spectrum Disorder
https://clinicaltrials.gov/ct2/show/NCT01059201
Research into the genetic causes of autism spectrum disorder (ASD) involves ... specific etiologies has been complicated by the heterogeneous nature of ASD.
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69 Lack of Replication of Previous Autism Spectrum Disorder ...
http://www.ub.edu/geneticaclasses/brucormand/pdfs/122.pdf
Keywords: genome-wide association study; replication; autism spectrum disorder; ... tional and chromatin genes disrupted in autism. Nature.
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70 Genetic contributions to autism spectrum disorder
https://www.cambridge.org/core/journals/psychological-medicine/article/genetic-contributions-to-autism-spectrum-disorder/89240047F6928249D9DE91A6A6CFBD52
More recently, the largest whole-exome sequencing analysis to date conducted by the ASC (N = 35 584, N cases = 11 986) identified 102 autism- ...
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71 Exome Sequencing of Familial Bipolar Disorder - JAMA Network
https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2517516
This exome sequencing study of family members with bipolar disorder ... of de novo coding mutations to autism spectrum disorder. Nature.
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72 De novo genic mutations among a Chinese autism spectrum ...
https://cyberleninka.org/article/n/686984.pdf
NATURE COMMUNICATIONS | 7:13316 | DOI: 10.1038/ncomms13316 | www.nature.com/ ... included DN mutation calls from exome sequencing of autism.
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73 Genome-wide detection of tandem DNA repeats that are ...
http://www.mclaughlin.utoronto.ca/Assets/McLaughlin+Centre+Digital+Assets/McLaughlin+Centre/MC+Digital+Assets/Trost+et+al+Nature+2020-07-27.pdf
80 | Nature | Vol 586 | 1 October 2020. Article. Genome-wide detection of tandem DNA repeats that are expanded in autism. Brett Trost1,2,24, ...
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74 Cracking the mystery of autism spectrum disorder - The Lancet
https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(20)30066-9/fulltext
The underlying pathology of autism spectrum disorder (ASD) remains unclear ... exome sequencing study of 11 986 autistic patients in Cell.
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75 Exome sequencing in sporadic autism spectrum disorders identifies ...
https://search.library.northwestern.edu/discovery/openurl?institution=01NWU_INST&rfr_id=info:sid%252Fprimo.exlibrisgroup.com-bX-Bx&rft_val_fmt=info:ofi/fmt:kev:mtx:&rft.epage=9&rft.volume=43&rft_id=info:doi/&rfr_id=info:sid/primo.exlibrisgroup.com-49069475-Bx&resource_type=article&rft.isbn_list=&rft.jtitle=Nature%20Genetics&rft.genre=article&rft.issue=6&rft.auinit1=B&rft.aulast=O'Roak&rft.auinit=B%20J&rft.date=2011-05&rft.eisbn_list=&rft.spage=585&rft.au=O'Roak,%20Brian%20J&rft.atitle=Exome%20sequencing%20in%20sporadic%20autism%20spectrum%20disorders%20identifies%20severe%20de%20novo%20mutations.&rft.issn=1061-4036&rft.eissn=1546-1718&svc_dat=CTO&vid=01NWU_INST:NULVNEW
Nature. Available from 1992 volume: 1 issue: 1. ACCESS RESTRICTED to the Northwestern University community. Each user is responsible for using Northwestern ...
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76 Study of More Than 18,000 Patients Finds Exome Sequencing ...
https://www.prnewswire.com/news-releases/study-of-more-than-18-000-patients-finds-exome-sequencing-delivers-higher-diagnostic-rates-for-autism-spectrum-disorders-301532449.html
... -- Study also identifies high number of genes not previously connected with autism spectrum disorders (ASD)--.
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77 Whole-Exome Sequencing Identifies Three Candidate ...
https://www.karger.com/Article/FullText/506530
Keywords: Whole-exome sequencingAutism spectrum disorderFBN1PLOD2TF ... This finding represents the multifactorial nature of genetic risk in ...
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78 Analysis of Regulatory Element Variation in Autism Spectrum ...
https://openscholarship.wustl.edu/cgi/viewcontent.cgi?article=3804&context=art_sci_etds
Exome sequencing in the Simons Simplex Collection . ... Autism Spectrum Disorder (ASD) is a highly prevalent neurodevelopmental ... Nature Genetics 48,.
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79 Publications | Dr. Ryan Yuen Lab - SickKids Research Institute
https://lab.research.sickkids.ca/yuen/publications/
Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature. 2020. DOI: 10.1038/s41586-020-2579-z.
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80 ADNP Syndrome - NORD (National Organization for Rare ...
https://rarediseases.org/rare-diseases/adnp-syndrome/
ADNP-related intellectual disability, autism-related spectrum disorder ... The ADNP-KRF also supports the Investigation of Genetic Exome Research (TIGER) ...
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81 Autism spectrum disorder severity reflects the average ... - PNAS
https://www.pnas.org/doi/10.1073/pnas.1409204111
In this analysis, we determined which individuals carry de novo LOF mutations using the published SSC exome sequencing studies and linked those data to the SSC ...
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82 Exome sequencing of 457 families in the SPARK for Autism ...
https://www.semel.ucla.edu/autism/news/exome-sequencing-457-families-spark-autism-study-has-led-exciting-results
Exome sequencing of 457 SPARK autism families has led to exciting ... and read more: https://www.nature.com/articles/s41525-019-0093-8.
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83 Large analysis pinpoints rare, diverse genetic changes in autism
https://www.broadinstitute.org/news/large-analysis-pinpoints-rare-diverse-genetic-changes-autism
The new work appears in Nature Genetics, alongside three related studies that use some of the same data to advance the understanding of the ...
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84 Advances in Characterizing the Genetic Basis of Autism
https://www.psomagen.com/blog/advances-in-characterizing-the-genetic-basis-of-autism
The diagnosis of autism spectrum disorders is still challenging for ... techniques such and whole-exome (WES) and whole-genome sequencing ...
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85 Next Generation Sequencing in Autism Spectrum Disorder
https://www.lidsen.com/journals/genetics/genetics-02-01-014
What is the nature of genetic mutations that contribute to autism? 3. ... They performed whole exome sequencing (WES) on 500-1000 individuals respectively, ...
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86 Whole-Genome Sequencing in Autism Identifies Hot Spots for ...
http://iakouchevalab.ucsd.edu/publications/A.39.pdf
De novo mutation plays an important role in autism ... the chimpanzee genome and comparison with the human genome. Nature. 437, 69–87.
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87 About Journal of Neurodevelopmental Disorders
https://springernature.figshare.com/jndd
Auditory processing in rodent models of autism: a systematic review ... dysfunction in pleiotropic biological processes using whole exome sequencing data.
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88 Exome sequencing in sporadic autism spectrum disorders ...
https://facultyopinions.com/article/10819956
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O'Roak BJ et al. Nature Genetics. 2011 Jun; 43(6):585-589.
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89 Big step forward for autism genetics - Emory News Center
https://news.emory.edu/stories/2014/10/autism_sequencing_consortium_nature/campus.html
The study, published Wednesday in Nature, dramatically expanded the list of ... The researchers used a technique called exome sequencing, ...
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90 Neurodevelopmental disorders and genetic testing
https://brain.ucsf.edu/sites/brain.ucsf.edu/files/wysiwyg/Genetic%20testing%20and%20NDD.pdf
microarray analysis [CMA], whole exome sequencing ... diagnosis of autism will have a diagnosis of ID.9 This ... Nature 2012;485:246–250.
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91 Autism genetics - ECNP
https://www.ecnp.eu/~/media/Files/ecnp/publication/Talk%20of%20the%20Month/3_Persico_Napolioni_Autism_Genetics_2013.pdf
Genome-wide association. Whole exome sequencing. a b s t r a c t. Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic ...
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92 The role of de novo mutations in the genetics of autism ...
http://wigserv2.cshl.edu/lib/exe/fetch.php?media=ronemus_et_al_nrg_2014.pdf
NATURE REVIEWS | GENETICS ... www.nature.com/reviews/genetics ... the data from exome sequencing of families in the Simons Simplex.
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93 Nature genetics - VIVO
https://vivo.weill.cornell.edu/display/journald6afd47caf1ab4d29f3ae5ead9842b92
2020; Genome-wide association study identifies 32 novel breast cancer ... and rare variation act additively to create risk for autism spectrum disorders.
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94 What is the cost of genetic testing, and how long does it take to ...
https://medlineplus.gov/genetics/understanding/testing/costresults/
The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test.
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95 Mechanisms of complex genetic inheritance in autism - SFARI
https://www.sfari.org/funded-project/mechanisms-of-complex-genetic-inheritance-in-autism/
... San Diego (UCSD) are investigating the nature of complex genetic inheritance by assembling a large combined data set of whole-exome sequencing and ...
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96 DNA sequencing consortium unveils patterns of - EurekAlert!
https://www.eurekalert.org/news-releases/601807
DNA sequencing consortium unveils patterns of mutations in autism. Exome sequencing points to roles for many genes, highlights 2 genes as ...
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97 Prioritization of neurodevelopmental disease genes by ... - OUCI
https://ouci.dntb.gov.ua/en/works/7XYjd004/
Journal: Nature Neuroscience, 2014, № 6, p. 764-772 ... Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat.
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98 Sporadic autism exomes reveal a highly interconnected ...
https://www.biostat.wisc.edu/~kbroman/hgjc/hgjc_2012-05-11b.pdf
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genet. 43, 585–589 (2011). 5. Hultman, C. M., ...
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