The role of de novo mutations in the genetics of autism spectrum disorders
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Michael Wigler | Ivan Iossifov | Michael Ronemus | Dan Levy | M. Wigler | D. Levy | I. Iossifov | M. Ronemus
[1] Ryan S. Lee,et al. Linking the SWI/SNF complex to prostate cancer , 2013, Nature Genetics.
[2] Jianxin Shi,et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs , 2013, Nature Genetics.
[3] M. State,et al. Recent developments in the genetics of autism spectrum disorders. , 2013, Current opinion in genetics & development.
[4] Angelica Ronald,et al. Examining and interpreting the female protective effect against autistic behavior , 2013, Proceedings of the National Academy of Sciences.
[5] Y. Pawitan,et al. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease , 2013, Molecular Psychiatry.
[6] Kathryn Roeder,et al. Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders , 2013, Neuron.
[7] Bradley P. Coe,et al. Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.
[8] C. Walsh,et al. Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain , 2012, Cell.
[9] Kathryn Roeder,et al. Common genetic variants, acting additively, are a major source of risk for autism , 2012, Molecular Autism.
[10] S. Steinberg,et al. Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.
[11] J. Veltman,et al. De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.
[12] Raymond K. Auerbach,et al. An Integrated Encyclopedia of DNA Elements in the Human Genome , 2012, Nature.
[13] D. C. Hancks,et al. Active human retrotransposons: variation and disease. , 2012, Current opinion in genetics & development.
[14] Bernie Devlin,et al. Genetic architecture in autism spectrum disorder. , 2012, Current opinion in genetics & development.
[15] Toshiro K. Ohsumi,et al. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries , 2012, Cell.
[16] Kenny Q. Ye,et al. De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.
[17] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[18] Evan T. Geller,et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.
[19] Tomas Babak,et al. Critical Evaluation of Imprinted Gene Expression by RNA–Seq: A New Perspective , 2012, PLoS genetics.
[20] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[21] Kenny Q. Ye,et al. Reducing system noise in copy number data using principal components of self-self hybridizations , 2011, Proceedings of the National Academy of Sciences.
[22] D. Barlow. Genomic imprinting: a mammalian epigenetic discovery model. , 2011, Annual review of genetics.
[23] C. Lajonchere,et al. Genetic heritability and shared environmental factors among twin pairs with autism. , 2011, Archives of general psychiatry.
[24] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[25] Mark F. Bear,et al. Mutations causing syndromic autism define an axis of synaptic pathophysiology , 2011, Nature.
[26] S. Bryson,et al. Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study , 2011, Pediatrics.
[27] D. Licatalosi,et al. FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism , 2011, Cell.
[28] Lorna M. Lopez,et al. Genome-wide association studies establish that human intelligence is highly heritable and polygenic , 2011, Molecular Psychiatry.
[29] 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.
[30] Michael Wigler,et al. Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses , 2011, Neuron.
[31] Boris Yamrom,et al. Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders , 2011, Neuron.
[32] S. Horvath,et al. Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology , 2011, Nature.
[33] Judith A. Blake,et al. The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics , 2010, Nucleic Acids Res..
[34] Yi Zhang,et al. Sibling recurrence and the genetic epidemiology of autism. , 2010, The American journal of psychiatry.
[35] C. Lord,et al. The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors , 2010, Neuron.
[36] E. Eichler,et al. Phenotypic variability and genetic susceptibility to genomic disorders. , 2010, Human molecular genetics.
[37] David Haig,et al. Sex-Specific Parent-of-Origin Allelic Expression in the Mouse Brain , 2010, Science.
[38] Margaret A. Pericak-Vance,et al. A genome-wide scan for common alleles affecting risk for autism , 2010, Human molecular genetics.
[39] Gary D Bader,et al. Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.
[40] C. Gillberg,et al. Trajectories leading to autism spectrum disorders are affected by paternal age: findings from two nationally representative twin studies. , 2010, Journal of child psychology and psychiatry, and allied disciplines.
[41] P. Visscher,et al. Common SNPs explain a large proportion of heritability for human height , 2011 .
[42] Gayane Yenokyan,et al. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. , 2009, Archives of pediatrics & adolescent medicine.
[43] D. Arking,et al. A GENOME-WIDE LINKAGE AND ASSOCIATION SCAN REVEALS NOVEL LOCI FOR AUTISM , 2009, Nature.
[44] E. Fombonne. Epidemiology of Pervasive Developmental Disorders , 2009, Pediatric Research.
[45] Robert T. Schultz,et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders , 2009, Nature.
[46] G. Shaw,et al. The population‐based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US , 2008, American journal of medical genetics. Part A.
[47] D. Vitkup,et al. Network properties of genes harboring inherited disease mutations , 2008, Proceedings of the National Academy of Sciences.
[48] D. Pinto,et al. Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.
[49] Z. Xuan,et al. Genome-wide in situ exon capture for selective resequencing , 2007, Nature Genetics.
[50] Kenny Q. Ye,et al. A unified genetic theory for sporadic and inherited autism , 2007, Proceedings of the National Academy of Sciences.
[51] Kenny Q. Ye,et al. Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.
[52] Julie Daniels,et al. The epidemiology of autism spectrum disorders. , 2007, Annual review of public health.
[53] D. Geschwind,et al. Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder , 2006, Molecular Psychiatry.
[54] D. Geschwind,et al. Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families , 2006, Annals of neurology.
[55] D. Geschwind,et al. Replication of autism linkage: fine-mapping peak at 17q21. , 2005, American journal of human genetics.
[56] Chun Li,et al. Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates , 2005, BMC Medical Genetics.
[57] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[58] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[59] Mark F Bear,et al. The mGluR theory of fragile X mental retardation , 2004, Trends in Neurosciences.
[60] I. Rapin,et al. The genetics of autism. , 2004, Pediatrics.
[61] M. Owen,et al. Paternal age and risk for schizophrenia , 2003, British Journal of Psychiatry.
[62] S. Spence,et al. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. , 2001, American journal of human genetics.
[63] M. Lauritsen,et al. The genetics of autism , 2001, Acta psychiatrica Scandinavica.
[64] M. Ashburner,et al. Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.
[65] H. Zoghbi,et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.
[66] Courtney A. Harper,et al. A genomic screen of autism: evidence for a multilocus etiology. , 1999, American journal of human genetics.
[67] A. Bailey,et al. Autism as a strongly genetic disorder: evidence from a British twin study , 1995, Psychological Medicine.
[68] J. Sutcliffe,et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox , 1991, Cell.
[69] B J Freeman,et al. Complex segregation analysis of autism. , 1991, American journal of human genetics.
[70] J. Sutcliffe,et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.
[71] 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.
[72] J. Stockman,et al. A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome , 2013 .
[73] S. Grant,et al. Characterization of the proteome, diseases and evolution of the human postsynaptic density , 2011, Nature Neuroscience.
[74] Emily H Turner,et al. Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.