- Home
- Publications
- Publication Search
- Publication Details
Title
Genome-wide characteristics of de novo mutations in autism
Authors
Keywords
-
Journal
npj Genomic Medicine
Volume 1, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-08-03
DOI
10.1038/npjgenmed.2016.27
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
- (2016) Grace X Y Zheng et al. NATURE BIOTECHNOLOGY
- Clinical detection of deletion structural variants in whole-genome sequences
- (2016) Aaron C Noll et al. npj Genomic Medicine
- Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
- (2016) Dimitri J Stavropoulos et al. npj Genomic Medicine
- Assessing structural variation in a personal genome—towards a human reference diploid genome
- (2015) Adam C English et al. BMC GENOMICS
- Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family
- (2015) Linh T.T. Duong et al. European Journal of Medical Genetics
- Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
- (2015) Kristiina Tammimies et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Integrative analysis of 111 reference human epigenomes
- (2015) Anshul Kundaje et al. NATURE
- Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning
- (2015) Babak Alipanahi et al. NATURE BIOTECHNOLOGY
- Genome-wide patterns and properties of de novo mutations in humans
- (2015) Laurent C Francioli et al. NATURE GENETICS
- Whole-genome sequencing of quartet families with autism spectrum disorder
- (2015) Ryan K C Yuen et al. NATURE MEDICINE
- From the genetic architecture to synaptic plasticity in autism spectrum disorder
- (2015) Thomas Bourgeron NATURE REVIEWS NEUROSCIENCE
- Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
- (2015) Alissa M. D’Gama et al. NEURON
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- (2015) Stephan J. Sanders et al. NEURON
- NSD1 mutations generate a genome-wide DNA methylation signature
- (2015) S. Choufani et al. Nature Communications
- Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample
- (2015) Emma Colvert et al. JAMA Psychiatry
- 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
- Autism spectrum disorder: advances in evidence-based practice
- (2014) E. Anagnostou et al. CANADIAN MEDICAL ASSOCIATION JOURNAL
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- An atlas of active enhancers across human cell types and tissues
- (2014) Robin Andersson et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
- (2014) Katrina Tatton-Brown et al. NATURE GENETICS
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
- (2014) Céline Helsmoortel et al. NATURE GENETICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli 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
- The role of de novo mutations in the genetics of autism spectrum disorders
- (2014) Michael Ronemus et al. NATURE REVIEWS GENETICS
- The human splicing code reveals new insights into the genetic determinants of disease
- (2014) H. Y. Xiong et al. SCIENCE
- De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
- (2014) Shan Dong et al. Cell Reports
- Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
- (2013) Yong-hui Jiang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Batch Effects and Pathway Analysis: Two Potential Perils in Cancer Studies Involving DNA Methylation Array Analysis
- (2013) K. N. Harper et al. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
- Diverse Mechanisms of Somatic Structural Variations in Human Cancer Genomes
- (2013) Lixing Yang et al. CELL
- A High-Resolution Enhancer Atlas of the Developing Telencephalon
- (2013) Axel Visel et al. CELL
- Autism spectrum disorder in the genetics clinic: a review
- (2013) MT Carter et al. CLINICAL GENETICS
- Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
- (2013) J C Hodge et al. MOLECULAR PSYCHIATRY
- Replicative mechanisms for CNV formation are error prone
- (2013) Claudia M B Carvalho et al. NATURE GENETICS
- Low-level processing of Illumina Infinium DNA Methylation BeadArrays
- (2013) Timothy J. Triche et al. NUCLEIC ACIDS RESEARCH
- Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
- (2013) Ekta Khurana et al. SCIENCE
- Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum
- (2013) Andy Wing Chun Pang et al. G3-Genes Genomes Genetics
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
- (2013) Xin He et al. PLoS Genetics
- Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
- (2012) Mingfu Zhu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DNA methylation arrays as surrogate measures of cell mixture distribution
- (2012) Eugene Houseman et al. BMC BIOINFORMATICS
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
- (2012) Michael E. Talkowski et al. CELL
- Genetic architecture in autism spectrum disorder
- (2012) Bernie Devlin et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Individual common variants exert weak effects on the risk for autism spectrum disorders
- (2012) Richard Anney et al. HUMAN MOLECULAR GENETICS
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders
- (2012) Joseph D. Buxbaum et al. NEURON
- SWAN: Subset-quantile Within Array Normalization for Illumina Infinium HumanMethylation450 BeadChips
- (2012) Jovana Maksimovic et al. GENOME BIOLOGY
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
- (2010) Philip Awadalla et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation
- (2010) Daniele Merico et al. PLoS One
- Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
- (2010) A. Noor et al. Science Translational Medicine
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Epidemiology of Pervasive Developmental Disorders
- (2009) Eric Fombonne PEDIATRIC RESEARCH
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
- (2008) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- High-resolution mapping of copy-number alterations with massively parallel sequencing
- (2008) Derek Y Chiang et al. NATURE METHODS
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 MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started