Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
出版年份 2017 全文链接
标题
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
作者
关键词
-
出版物
NATURE NEUROSCIENCE
Volume 20, Issue 9, Pages 1217-1224
出版商
Springer Nature
发表日期
2017-07-17
DOI
10.1038/nn.4598
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The Contribution of Mosaic Variants to Autism Spectrum Disorder
- (2016) Donald Freed et al. PLoS Genetics
- Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
- (2015) Rocio Acuna-Hidalgo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Cell-of-origin chromatin organization shapes the mutational landscape of cancer
- (2015) Paz Polak et al. NATURE
- SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas
- (2015) Francois Le Loarer et al. NATURE GENETICS
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- (2015) Stephan J. Sanders et al. NEURON
- The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
- (2015) Justin Cotney et al. Nature Communications
- Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
- (2014) Dalila Pinto et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A
- (2014) Tomoki Kosho et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- De novo mutations in schizophrenia implicate synaptic networks
- (2014) Menachem Fromer et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4
- (2014) Pilar Ramos et al. NATURE GENETICS
- Most genetic risk for autism resides with common variation
- (2014) Trent Gaugler et al. NATURE GENETICS
- Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
- (2014) Mohammed Uddin et al. NATURE GENETICS
- Recurrent SMARCA4 mutations in small cell carcinoma of the ovary
- (2014) Petar Jelinic et al. NATURE GENETICS
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
- (2014) Giulio Genovese et al. NEW ENGLAND JOURNAL OF MEDICINE
- COSMIC: exploring the world's knowledge of somatic mutations in human cancer
- (2014) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk
- (2014) B. J. O'Roak et al. Nature Communications
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders
- (2013) Elaine T. Lim et al. NEURON
- Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
- (2013) Timothy W. Yu et al. NEURON
- Single-Neuron Correlates of Atypical Face Processing in Autism
- (2013) Ueli Rutishauser et al. NEURON
- Somatic Mutation, Genomic Variation, and Neurological Disease
- (2013) A. Poduri et al. SCIENCE
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation
- (2012) Amnon Koren et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Modular Genetic Control of Sexually Dimorphic Behaviors
- (2012) Xiaohong Xu et al. CELL
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Autism-related deficits via dysregulated eIF4E-dependent translational control
- (2012) Christos G. Gkogkas et al. NATURE
- Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations
- (2012) Trevor J. Pugh et al. NATURE
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- (2012) Yoshinori Tsurusaki et al. NATURE GENETICS
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes
- (2012) Yong H Woo et al. Nature Communications
- FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
- (2011) Jennifer C. Darnell et al. CELL
- Widespread signatures of recent selection linked to nucleosome positioning in the human lineage
- (2011) J. G. D. Prendergast et al. GENOME RESEARCH
- Spatio-temporal transcriptome of the human brain
- (2011) Hyo Jung Kang et al. NATURE
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- A comprehensive catalogue of somatic mutations from a human cancer genome
- (2009) Erin D. Pleasance et al. NATURE
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- A Calcium-Dependent Switch in a CREST-BRG1 Complex Regulates Activity-Dependent Gene Expression
- (2008) Zilong Qiu et al. NEURON
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now