Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
出版年份 2022 全文链接
标题
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
作者
关键词
-
出版物
NATURE GENETICS
Volume 54, Issue 9, Pages 1320-1331
出版商
Springer Science and Business Media LLC
发表日期
2022-08-19
DOI
10.1038/s41588-022-01104-0
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。- Rare coding variants in ten genes confer substantial risk for schizophrenia
- (2022) Tarjinder Singh et al. NATURE
- A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
- (2022) Danny Antaki et al. NATURE GENETICS
- De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
- (2021) Jonathan R. Belyeu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Integration and transfer learning of single-cell transcriptomes via cFIT
- (2021) Minshi Peng et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation
- (2021) Peter Ebert et al. SCIENCE
- Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
- (2021) Xuefang Zhao et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recent ultra-rare inherited variants implicate new autism candidate risk genes
- (2021) Amy B. Wilfert et al. NATURE GENETICS
- Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
- (2021) Joseph D. Szustakowski et al. NATURE GENETICS
- Cell type hierarchy reconstruction via reconciliation of multi-resolution cluster tree
- (2021) Minshi Peng et al. NUCLEIC ACIDS RESEARCH
- Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018
- (2021) Matthew J. Maenner et al. MMWR Surveillance Summaries
- A Mixed-Methods Investigation of Diagnostician Sex/Gender-Bias and Challenges in Assessing Females for Autism Spectrum Disorder
- (2021) Joanna M. Tsirgiotis et al. JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- A structural variation reference for medical and population genetics
- (2020) Ryan L. Collins et al. NATURE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Genome-wide detection of tandem DNA repeats that are expanded in autism
- (2020) Brett Trost et al. NATURE
- Evidence for 28 genetic disorders discovered by combining healthcare and research data
- (2020) Joanna Kaplanis et al. NATURE
- New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders
- (2020) Mariana Moyses-Oliveira et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Identification of common genetic risk variants for autism spectrum disorder
- (2019) Jakob Grove et al. NATURE GENETICS
- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
- (2019) Jenny Lord et al. LANCET
- Recessive gene disruptions in autism spectrum disorder
- (2019) Ryan N. Doan et al. NATURE GENETICS
- A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
- (2019) Damon Polioudakis et al. NEURON
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
- (2019) Elizabeth K. Ruzzo et al. CELL
- A framework for the investigation of rare genetic disorders in neuropsychiatry
- (2019) Stephan J. Sanders et al. NATURE MEDICINE
- Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
- (2019) F. Kyle Satterstrom et al. NATURE NEUROSCIENCE
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
- (2018) Donna M. Werling et al. NATURE GENETICS
- SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
- (2018) Pamela Feliciano et al. NEURON
- Paternally inherited cis-regulatory structural variants are associated with autism
- (2018) William M. Brandler et al. SCIENCE
- The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- (2018) Eline van der Sluijs et al. GENETICS IN MEDICINE
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
- (2018) Bradley P. Coe et al. NATURE GENETICS
- The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
- (2018) Tychele N. Turner et al. TRENDS IN NEUROSCIENCES
- The Heritability of Autism Spectrum Disorder
- (2017) Sven Sandin et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis
- (2017) Rachel Loomes et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- Parental influence on human germline de novo mutations in 1,548 trios from Iceland
- (2017) Hákon Jónsson et al. NATURE
- Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex
- (2017) Tomasz J. Nowakowski et al. SCIENCE
- Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
- (2016) Michael H. Duyzend et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- (2015) Stephan J. Sanders et al. NEURON
- limma powers differential expression analyses for RNA-sequencing and microarray studies
- (2015) Matthew E. Ritchie et al. NUCLEIC ACIDS RESEARCH
- mixtools: AnRPackage for Analyzing Finite Mixture Models
- (2015) Tatiana Benaglia et al. Journal of Statistical Software
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
- (2014) Dalila Pinto et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
- (2014) Shan Dong et al. Cell Reports
- Comorbidity Clusters in Autism Spectrum Disorders: An Electronic Health Record Time-Series Analysis
- (2013) Finale Doshi-Velez et al. PEDIATRICS
- Examining and interpreting the female protective effect against autistic behavior
- (2013) E. B. Robinson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
- (2013) Xin He et al. PLoS Genetics
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
- (2012) Michael E. Talkowski et al. CELL
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders
- (2012) Joseph D. Buxbaum et al. NEURON
- Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders
- (2012) The Simons VIP Consortium NEURON
- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
- (2011) Dalila Pinto et al. NATURE BIOTECHNOLOGY
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE 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
- Social and demographic factors that influence the diagnosis of autistic spectrum disorders
- (2010) Ginny Russell et al. SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
- (2009) Joseph T. Glessner et al. NATURE
- Genomic disorders ten years on
- (2009) James R Lupski Genome Medicine
- Genetic overlap between autism, schizophrenia and bipolar disorder
- (2009) Liam S Carroll et al. Genome Medicine
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish 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 More