Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
Published 2013 View Full Article
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Title
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
Authors
Keywords
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Journal
NATURE GENETICS
Volume 45, Issue 3, Pages 234-238
Publisher
Springer Nature
Online
2013-02-26
DOI
10.1038/ng.2555
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Note: Only part of the references are listed.- Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
- (2012) Rui Luo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia
- (2012) Anna C. Need et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
- (2012) Anne Goriely et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
- (2012) A. V. Dharmadhikari et al. HUMAN MOLECULAR GENETICS
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
- (2012) Bin Xu et al. NATURE GENETICS
- Exome sequencing and the genetic basis of complex traits
- (2012) Adam Kiezun et al. NATURE GENETICS
- Genetic architectures of psychiatric disorders: the emerging picture and its implications
- (2012) Patrick F. Sullivan et al. NATURE REVIEWS GENETICS
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
- (2011) Tara Klassen et al. CELL
- The causality of de novo copy number variants is overestimated
- (2011) Joris R Vermeesch et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- (2011) Hossein Najmabadi et al. NATURE
- Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
- (2011) Vladimir Vacic et al. NATURE
- Exome sequencing supports a de novo mutational paradigm for schizophrenia
- (2011) Bin Xu et al. NATURE GENETICS
- Increased exonic de novo mutation rate in individuals with schizophrenia
- (2011) Simon L Girard et al. NATURE GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- The conundrums of understanding genetic risks for autism spectrum disorders
- (2011) Matthew W State et al. NATURE NEUROSCIENCE
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- Variation in the mutation rate across mammalian genomes
- (2011) Alan Hodgkinson et al. NATURE REVIEWS GENETICS
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
- (2011) Stephan J. Sanders et al. NEURON
- Schizophrenia Genetics: Where Next?
- (2011) Y. Kim et al. SCHIZOPHRENIA BULLETIN
- Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
- (2011) C. J. Bell et al. Science Translational Medicine
- Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
- (2010) Philip Awadalla et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood
- (2010) Paul Lichtenstein et al. AMERICAN JOURNAL OF PSYCHIATRY
- Penetrance for copy number variants associated with schizophrenia
- (2010) E. Vassos et al. HUMAN MOLECULAR GENETICS
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
- (2010) Peter M Krawitz et al. NATURE GENETICS
- Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
- (2010) Yingrui Li et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study
- (2009) Paul Lichtenstein et al. LANCET
- Common genetic variants on 5p14.1 associate with autism spectrum disorders
- (2009) Kai Wang et al. NATURE
- Cryptic Variation in the Human Mutation Rate
- (2009) Alan Hodgkinson et al. PLOS BIOLOGY
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