Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
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Title
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
Authors
Keywords
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Journal
SCIENCE
Volume 362, Issue 6420, Pages eaat6576
Publisher
American Association for the Advancement of Science (AAAS)
Online
2018-12-14
DOI
10.1126/science.aat6576
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Note: Only part of the references are listed.- De novo variants in neurodevelopmental disorders with epilepsy
- (2018) Henrike O. Heyne et al. NATURE GENETICS
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
- (2018) Donna M. Werling et al. NATURE GENETICS
- Paternally inherited cis-regulatory structural variants are associated with autism
- (2018) William M. Brandler et al. SCIENCE
- De novo mutations in regulatory elements in neurodevelopmental disorders
- (2018) Patrick J. Short et al. NATURE
- Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
- (2017) Jack A Kosmicki et al. NATURE GENETICS
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- Whole genome sequencing in psychiatric disorders: the WGSPD consortium
- (2017) Stephan J. Sanders et al. NATURE NEUROSCIENCE
- JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework
- (2017) Aziz Khan et al. NUCLEIC ACIDS RESEARCH
- Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
- (2016) Tychele N. Turner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity
- (2016) Fumitaka Inoue et al. GENOME RESEARCH
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- (2016) Claire Redin et al. NATURE GENETICS
- Genome-wide characteristics of de novo mutations in autism
- (2016) Ryan KC Yuen et al. npj Genomic Medicine
- Non-coding genetic variants in human disease: Figure 1.
- (2015) Feng Zhang et al. HUMAN MOLECULAR GENETICS
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- Timing, rates and spectra of human germline mutation
- (2015) Raheleh Rahbari et al. NATURE GENETICS
- The PsychENCODE project
- (2015) Schahram Akbarian et al. NATURE NEUROSCIENCE
- 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
- Regularization Paths for Generalized Linear Models via Coordinate Descent
- (2015) Jerome Friedman et al. Journal of Statistical Software
- A Bayesian framework for de novo mutation calling in parents-offspring trios
- (2014) Qiang Wei et al. BIOINFORMATICS
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- A polygenic burden of rare disruptive mutations in schizophrenia
- (2014) Shaun M. Purcell et al. NATURE
- Transcriptional landscape of the prenatal human brain
- (2014) Jeremy A. Miller et al. NATURE
- CHD8regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
- (2014) Aarathi Sugathan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics
- (2014) Li Liu et al. Molecular Autism
- CrossMap: a versatile tool for coordinate conversion between genome assemblies
- (2013) Hao Zhao et al. BIOINFORMATICS
- Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
- (2013) A. Jeremy Willsey et al. CELL
- Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies
- (2013) Nilanjan Chatterjee et al. NATURE GENETICS
- Precise Maps of RNA Polymerase Reveal How Promoters Direct Initiation and Pausing
- (2013) H. Kwak et al. SCIENCE
- Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
- (2012) Jacob J. Michaelson et al. CELL
- GENCODE: The reference human genome annotation for The ENCODE Project
- (2012) J. Harrow et al. GENOME RESEARCH
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- Primer3—new capabilities and interfaces
- (2012) Andreas Untergasser et al. NUCLEIC ACIDS RESEARCH
- Prevalence of Autism Spectrum Disorders in a Total Population Sample
- (2011) Young Shin Kim et al. AMERICAN JOURNAL OF PSYCHIATRY
- FIMO: scanning for occurrences of a given motif
- (2011) Charles E. Grant et al. BIOINFORMATICS
- FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
- (2011) Jennifer C. Darnell et al. CELL
- Spatio-temporal transcriptome of the human brain
- (2011) Hyo Jung Kang et al. NATURE
- Variation in genome-wide mutation rates within and between human families
- (2011) Donald F Conrad et al. NATURE GENETICS
- Characterization of the proteome, diseases and evolution of the human postsynaptic density
- (2010) Àlex Bayés et al. NATURE NEUROSCIENCE
- The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
- (2010) Gerald D. Fischbach et al. NEURON
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Estimation of significance thresholds for genomewide association scans
- (2008) Frank Dudbridge et al. GENETIC EPIDEMIOLOGY
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