Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies
暂无分享,去创建一个
[1] J. Sebat,et al. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex , 2021, Nature Genetics.
[2] M. Gymrek,et al. Patterns of de novo tandem repeat mutations and their role in autism , 2020, Nature.
[3] S. Scherer,et al. Genome-wide detection of tandem DNA repeats that are expanded in autism , 2020, Nature.
[4] C. Toma. Genetic Variation across Phenotypic Severity of Autism. , 2020, Trends in genetics : TIG.
[5] M. Daly,et al. Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations , 2019, Nature Neuroscience.
[6] G. Kirov,et al. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia , 2019, Nature Neuroscience.
[7] Matthew W. Mosconi,et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism , 2019, Cell.
[8] J. Choi,et al. Noncoding de novo mutations contribute to autism spectrum disorder via chromatin interactions , 2019, bioRxiv.
[9] Wyeth W. Wasserman,et al. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data , 2019, Genome Biology.
[10] C. Hartl,et al. Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms , 2019, Cell.
[11] Stephan J Sanders,et al. 29 BRAINVAR DATA SET: WHOLE-GENOME AND RNA SEQUENCING REVEAL VARIATION AND TRANSCRIPTOMIC COORDINATION IN THE DEVELOPING HUMAN PREFRONTAL CORTEX , 2019, European Neuropsychopharmacology.
[12] Stefan N Hansen,et al. Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. , 2019, JAMA psychiatry.
[13] Laura Pérez-Cano,et al. Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks , 2019, Cell.
[14] Iuliana Ionita-Laza,et al. A genome-wide scan statistic framework for whole-genome sequence data analysis , 2019, Nature Communications.
[15] M. Daly,et al. Recessive gene disruptions in autism spectrum disorder , 2019, Nature Genetics.
[16] Brian E. Cade,et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program , 2019, Nature.
[17] Alicia R. Martin,et al. Identification of common genetic risk variants for autism spectrum disorder , 2019, Nature Genetics.
[18] Ryan L. Collins,et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes , 2019, bioRxiv.
[19] Patrick J. Short,et al. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders , 2019, bioRxiv.
[20] Ryan L. Collins,et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder , 2018, Science.
[21] Janice M. Fullerton,et al. Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of LRP1 Across Psychiatric Phenotypes , 2018, bioRxiv.
[22] S. Scherer,et al. Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders , 2018, npj Genomic Medicine.
[23] Janice M. Fullerton,et al. Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders , 2018, bioRxiv.
[24] Nima Mousavi,et al. Profiling the genome-wide landscape of tandem repeat expansions , 2018, bioRxiv.
[25] K. Roeder,et al. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders , 2018, Nature Genetics.
[26] Murray H Brilliant,et al. Using machine learning to identify patterns of lifetime health problems in decedents with autism spectrum disorder , 2018, Autism research : official journal of the International Society for Autism Research.
[27] Ryan L. Collins,et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder , 2018, Nature Genetics.
[28] Devika Chawla,et al. Broader Autism Phenotype in Parents of Children with Autism: A Systematic Review of Percentage Estimates , 2018, Journal of Child and Family Studies.
[29] B. H. Lo,et al. Autism Spectrum Disorder , 2018, Journal of paediatrics and child health.
[30] James D Stephenson,et al. Quantifying the contribution of recessive coding variation to developmental disorders , 2017, Science.
[31] Len A. Pennacchio,et al. Genomic Patterns of De Novo Mutation in Simplex Autism , 2017, Cell.
[32] Sven Sandin,et al. The Heritability of Autism Spectrum Disorder , 2017, JAMA.
[33] K. Roeder,et al. The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability. , 2017, Annual review of genomics and human genetics.
[34] Hailiang Huang,et al. Whole genome sequencing in psychiatric disorders: the WGSPD consortium , 2017, bioRxiv.
[35] D. Reich,et al. Interpreting short tandem repeat variations in humans using mutational constraint , 2016, Nature Genetics.
[36] M. Daly,et al. De novo variants in neurodevelopmental disorders with epilepsy , 2018, Nature Genetics.
[37] T. Bourgeron,et al. Gender differences in autism spectrum disorders: Divergence among specific core symptoms , 2017, Autism research : official journal of the International Society for Autism Research.
[38] Ryan L. Collins,et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome , 2017, Genome Biology.
[39] B. Frey,et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder , 2017, Nature Neuroscience.
[40] Stephan J Sanders,et al. Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder. , 2017, The American journal of psychiatry.
[41] B. Franke,et al. Lack of replication of previous autism spectrum disorder GWAS hits in European populations , 2017, Autism research : official journal of the International Society for Autism Research.
[42] Roy Ben-Shalom,et al. Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures , 2017, Biological Psychiatry.
[43] Joan,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[44] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[45] Yaniv Erlich,et al. Genome-wide profiling of heritable and de novo STR variations , 2016, Nature Methods.
[46] Stephan J Sanders,et al. Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples , 2016, Nature Genetics.
[47] D. Werling,et al. The role of sex-differential biology in risk for autism spectrum disorder , 2016, Biology of Sex Differences.
[48] Rita M Cantor,et al. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. , 2016, American journal of human genetics.
[49] Samuel S. Gross,et al. Genome-wide characteristics of de novo mutations in autism , 2016, npj Genomic Medicine.
[50] D. Geschwind,et al. Advancing the understanding of autism disease mechanisms through genetics , 2016, Nature Medicine.
[51] J. Hurst,et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis , 2016, Journal of Medical Genetics.
[52] C. Baker,et al. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. , 2016, American journal of human genetics.
[53] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[54] D. Geschwind,et al. Gene hunting in autism spectrum disorder: on the path to precision medicine , 2015, The Lancet Neurology.
[55] Christopher S. Poultney,et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci , 2015, Neuron.
[56] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[57] Z. Hu,et al. Common genetic variants on 1p13.2 associate with risk of autism , 2014, Molecular Psychiatry.
[58] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.
[59] C. Spencer,et al. Biological Insights From 108 Schizophrenia-Associated Genetic Loci , 2014, Nature.
[60] Kathryn Roeder,et al. Most genetic risk for autism resides with common variation , 2014, Nature Genetics.
[61] X. Puente,et al. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations , 2014, Molecular Psychiatry.
[62] C. Claudianos,et al. Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach , 2014, Translational Psychiatry.
[63] Peter M Visscher,et al. Large-scale genomics unveils the genetic architecture of psychiatric disorders , 2014, Nature Neuroscience.
[64] S. Karpen,et al. Gastrointestinal Symptoms in Autism Spectrum Disorder: A Meta-analysis , 2014, Pediatrics.
[65] Yaniv Erlich,et al. The landscape of human STR variation , 2014, bioRxiv.
[66] Stephen J. Guter,et al. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders , 2014, American journal of human genetics.
[67] Jianxin Shi,et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs , 2013, Nature Genetics.
[68] Kathryn Roeder,et al. Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes , 2013, PLoS genetics.
[69] C. Gillberg,et al. The Autism Spectrum , 2013, Evolutionary Psychopathology.
[70] C. Castronovo. RARE DE NOVO AND TRANSMITTED COPY NUMBER VARIATIONS IN AUTISM SPECTRUM DISORDERS: IMPLICATIONS FOR FUNCTIONAL NETWORKS OF GENES INVOLVED IN NEUROGENESIS, NEURONAL METABOLISM, SYNAPTIC FUNCTION, NEUROIMMUNITY, INTRACELLULAR SIGNALING AND CHROMATIN REMODELING , 2013 .
[71] D. Geschwind,et al. Rare Inherited Variation in Autism: Beginning to See the Forest and a Few Trees , 2013, Neuron.
[72] Kathryn Roeder,et al. Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders , 2013, Neuron.
[73] Eric M. Morrow,et al. Using Whole-Exome Sequencing to Identify Inherited Causes of Autism , 2013, Neuron.
[74] P. McGuffin,et al. Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings. , 2013, JAMA psychiatry.
[75] Kathryn Roeder,et al. Common genetic variants, acting additively, are a major source of risk for autism , 2012, Molecular Autism.
[76] Shane J. Neph,et al. Systematic Localization of Common Disease-Associated Variation in Regulatory DNA , 2012, Science.
[77] S. Steinberg,et al. Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.
[78] Margaret A. Pericak-Vance,et al. Individual common variants exert weak effects on the risk for autism spectrum disorders , 2012, Human molecular genetics.
[79] Bernie Devlin,et al. Genetic architecture in autism spectrum disorder. , 2012, Current opinion in genetics & development.
[80] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[81] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[82] S. Spence,et al. Common neurological co-morbidities in autism spectrum disorders , 2011, Current opinion in pediatrics.
[83] Pat Levitt,et al. The conundrums of understanding genetic risks for autism spectrum disorders , 2011, Nature Neuroscience.
[84] M. DePristo,et al. Variation in genome-wide mutation rates within and between human families , 2011, Nature Genetics.
[85] Boris Yamrom,et al. Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders , 2011, Neuron.
[86] Kathryn Roeder,et al. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism , 2011, Neuron.
[87] C. Betancur,et al. Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting , 2011, Brain Research.
[88] C. Lord,et al. The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors , 2010, Neuron.
[89] Margaret A. Pericak-Vance,et al. A genome-wide scan for common alleles affecting risk for autism , 2010, Human molecular genetics.
[90] Gary D Bader,et al. Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.
[91] Ute Moog,et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation , 2010, Nature Genetics.
[92] Pauline C Ng,et al. Whole genome sequencing. , 2010, Methods in molecular biology.
[93] D. Arking,et al. A GENOME-WIDE LINKAGE AND ASSOCIATION SCAN REVEALS NOVEL LOCI FOR AUTISM , 2009, Nature.
[94] F. Collins,et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits , 2009, Proceedings of the National Academy of Sciences.
[95] Robert T. Schultz,et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders , 2009, Nature.
[96] Joseph A. Gogos,et al. Strong association of de novo copy number mutations with sporadic schizophrenia , 2008, Nature Genetics.
[97] D. Pinto,et al. Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.
[98] P. Keightley,et al. A Comparison of Models to Infer the Distribution of Fitness Effects of New Mutations , 2013, Genetics.
[99] Kenny Q. Ye,et al. Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.
[100] Thomas Bourgeron,et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements , 2007, Nature Genetics.
[101] D. Haussler,et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. , 2005, Genome research.
[102] B. Trask,et al. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. , 2002, Genomics.
[103] 読売新聞社,et al. 風景論 = On landscape , 2002 .
[104] E. C. Ritchie,et al. Gender Differences , 1981, Language in Society.
[105] J. Crow. The origins, patterns and implications of human spontaneous mutation , 2000, Nature Reviews Genetics.
[106] M Lappé,et al. Genetic control. , 1972, The New England journal of medicine.