Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
出版年份 2012 全文链接
标题
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
作者
关键词
-
出版物
NATURE
Volume 485, Issue 7397, Pages 246-250
出版商
Springer Nature
发表日期
2012-04-03
DOI
10.1038/nature10989
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- De novo copy number variants associated with intellectual disability have a paternal origin and age bias
- (2011) J. Y. Hehir-Kwa et al. JOURNAL OF MEDICAL GENETICS
- Transcriptomic analysis of autistic brain reveals convergent molecular pathology
- (2011) Irina Voineagu et al. NATURE
- Exome sequencing supports a de novo mutational paradigm for schizophrenia
- (2011) Bin Xu 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
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Solving the Autism Puzzle a Few Pieces at a Time
- (2011) Christian P. Schaaf et al. NEURON
- Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
- (2011) Dan Levy et al. NEURON
- Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses
- (2011) Sarah R. Gilman et al. NEURON
- 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
- Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders
- (2011) Y. Sakai et al. Science Translational Medicine
- DA DA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization
- (2011) Sinan Erten et al. BioData Mining
- Cytoscape 2.8: new features for data integration and network visualization
- (2010) M. E. Smoot et al. BIOINFORMATICS
- Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
- (2010) Catalina Betancur BRAIN RESEARCH
- CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
- (2010) T. Batsukh et al. HUMAN MOLECULAR GENETICS
- Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies
- (2010) C M Hultman et al. MOLECULAR PSYCHIATRY
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- (2010) Alexander Hoischen et al. NATURE GENETICS
- mrsFAST: a cache-oblivious algorithm for short-read mapping
- (2010) Faraz Hach et al. NATURE METHODS
- Target-enrichment strategies for next-generation sequencing
- (2010) Lira Mamanova et al. NATURE METHODS
- The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
- (2010) Gerald D. Fischbach et al. NEURON
- The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function
- (2010) David Warde-Farley et al. NUCLEIC ACIDS RESEARCH
- Rate, molecular spectrum, and consequences of human mutation
- (2010) M. Lynch PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex
- (2010) F. Bedogni et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
- (2009) Andy Itsara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- The non-apoptotic role of p53 in neuronal biology: enlightening the dark side of the moon
- (2009) Andrea Tedeschi et al. EMBO REPORTS
- The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
- (2009) L. G. Biesecker et al. GENOME RESEARCH
- CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis
- (2009) Masaaki Nishiyama et al. NATURE CELL BIOLOGY
- Massively parallel exon capture and library-free resequencing across 16 genomes
- (2009) Emily H Turner et al. NATURE METHODS
- Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly
- (2008) Rikke S. Møller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
- (2008) Karen Buysse et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Autism genetics: strategies, challenges, and opportunities
- (2008) Brian J. O'Roak et al. Autism Research
- CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates -Catenin Target Genes
- (2008) B. A. Thompson et al. MOLECULAR AND CELLULAR BIOLOGY
- Mapping and quantifying mammalian transcriptomes by RNA-Seq
- (2008) Ali Mortazavi et al. NATURE METHODS
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