University of Groningen De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Tourette
暂无分享,去创建一个
Jeffrey D. Mandell | J. Buxbaum | P. Paschou | B. Neale | Jinchuan Xing | M. State | G. Coppola | Dongmei Yu | J. Scharf | Juan Arbelaez | R. King | A. Willsey | J. Tischfield | C. Mathews | T. Fernandez | G. Heiman | A. Huang | Shan Dong | S. Rubeis | A. Dietrich | D. Grice | Cara Nasello | Nawei Sun | Yogesh Kumar | N. Dahl | Clif Duhn | S. S. Padmanabhuni | M. Morris | Zhiyu Yang | N. Khalifa | N. Sun | J. Arbelaez | C. Duhn | Sheng Wang | Xin Zhao | Shanmukha S. Padmanabhuni | Alden Huang
[1] Nevan J. Krogan,et al. The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders , 2018, Cell.
[2] J. Quezada,et al. Current Approaches and New Developments in the Pharmacological Management of Tourette Syndrome , 2018, CNS Drugs.
[3] James D Stephenson,et al. Quantifying the contribution of recessive coding variation to developmental disorders , 2017, Science.
[4] Yufeng Shen,et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands , 2017, Nature Genetics.
[5] Jeffrey D. Mandell,et al. De Novo Coding Variants Are Strongly Associated with Tourette Disorder , 2017, Neuron.
[6] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[7] Douglas W. Woods,et al. Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome , 2016, Neuron.
[8] Stephan J Sanders,et al. Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples , 2016, Nature Genetics.
[9] 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.
[10] Stephan J Sanders,et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies , 2015, Science.
[11] Stephan J Sanders,et al. The female protective effect in autism spectrum disorder is not mediated by a single genetic locus , 2015, Molecular Autism.
[12] Kali T. Witherspoon,et al. Excess of rare, inherited truncating mutations in autism , 2015, Nature Genetics.
[13] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[14] J. Long,et al. Illumina human exome genotyping array clustering and quality control , 2014, Nature Protocols.
[15] Kathryn Roeder,et al. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. , 2014, Cell reports.
[16] Edouard Henrion,et al. De Novo Mutations in Moderate or Severe Intellectual Disability , 2014, PLoS genetics.
[17] Dan J Stein,et al. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. , 2014, Journal of the American Academy of Child and Adolescent Psychiatry.
[18] Peter Holmans,et al. De novo CNVs in bipolar affective disorder and schizophrenia , 2014, Human molecular genetics.
[19] L. Vissers,et al. Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.
[20] M. State,et al. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods , 2014, European Child & Adolescent Psychiatry.
[21] Sven Bergmann,et al. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. , 2014, American journal of human genetics.
[22] E. Banks,et al. De novo mutations in schizophrenia implicate synaptic networks , 2014, Nature.
[23] Lars Feuk,et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..
[24] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[25] Kathryn Roeder,et al. Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes , 2013, PLoS genetics.
[26] R. Reading,et al. Diagnostic exome sequencing in persons with severe intellectual disability , 2013 .
[27] I. Adzhubei,et al. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.
[28] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration , 2012, Briefings Bioinform..
[29] D. Horn,et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.
[30] P. Paschou,et al. Replication of association between a SLITRK1 haplotype and Tourette Syndrome in a large sample of families , 2012, Molecular Psychiatry.
[31] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[32] Joseph T. Glessner,et al. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism , 2012, Biological Psychiatry.
[33] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[34] J. Sebat,et al. High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia , 2011, Neuron.
[35] Boris Yamrom,et al. Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders , 2011, Neuron.
[36] 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.
[37] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[38] C. Lord,et al. The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors , 2010, Neuron.
[39] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[40] H. Chugani,et al. Tourette syndrome is associated with recurrent exonic copy number variants , 2010, Neurology.
[41] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[42] M. DePristo,et al. analyzing next-generation DNA sequencing data The Genome Analysis Toolkit : A MapReduce framework for Material Supplemental , 2010 .
[43] L. Goutebroze,et al. Axonal targeting of Caspr2 in hippocampal neurons via selective somatodendritic endocytosis , 2009, Journal of Cell Science.
[44] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[45] A. Ghanizadeh,et al. Psychiatric disorders and behavioral problems in children and adolescents with Tourette syndrome , 2009, Brain and Development.
[46] M. Robertson. The prevalence and epidemiology of Gilles de la Tourette syndrome. Part 1: the epidemiological and prevalence studies. , 2008, Journal of psychosomatic research.
[47] Richard P Lifton,et al. Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. , 2004, American journal of human genetics.
[48] Joseph T. Glessner,et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. , 2007, Genome research.
[49] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[50] P. Heutink,et al. CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. , 2003, Genomics.
[51] Paul Sandor,et al. An international perspective on Tourette syndrome: selected findings from 3500 individuals in 22 countries , 2000, Developmental medicine and child neurology.
[52] D. Pauls. A complete genome screen in sib pairs affected by Gilles de la Tourette syndrome. The Tourette Syndrome Association International Consortium for Genetics. , 1999, American journal of human genetics.
[53] Y. Taketani,et al. cDNA cloning and chromosomal localization of neural adhesion molecule NB‐3 in human , 1998, Journal of neuroscience research.
[54] T. Südhof,et al. Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin. , 1992, Science.
[55] K. Kidd,et al. A twin study of Tourette syndrome. , 1985, Archives of general psychiatry.
[56] K. Kidd,et al. Familial pattern and transmission of Gilles de la Tourette syndrome and multiple tics. , 1981, Archives of general psychiatry.