Title : Copy number variations and cognitive phenotypes in unselected populations
暂无分享,去创建一个
Tom R. Gaunt | Hashem A. Shihab | R. Mägi | E. Mihailov | A. Reymond | J. Beckmann | Z. Kutalik | N. Timpson | W. Iacono | A. Metspalu | L. Leitsalu | Helene Alavere | A. Teumer | M. McGue | E. Salvi | D. Cusi | A. Guyatt | M. Nõukas | N. Pankratz | S. Jacquemont | K. Männik | A. Maillard | A. Macé | A. Kolk | A. Reigo | Ben Cole | Anne-Maud Ferreira
[1] R. Mägi,et al. Cohort Profile Cohort Profile : Estonian Biobank of the Estonian Genome Center , University of Tartu , 2015 .
[2] A Hofman,et al. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) , 2015, Molecular Psychiatry.
[3] Cathleen K. Yoshida,et al. Increased female autosomal burden of rare copy number variants in human populations and in autism families , 2015, Molecular Psychiatry.
[4] N Hadjikhani,et al. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity , 2014, Molecular Psychiatry.
[5] Ross M. Fraser,et al. Defining the role of common variation in the genomic and biological architecture of adult human height , 2014, Nature Genetics.
[6] Daniel J. Benjamin,et al. Genetic Variation Associated with Differential Educational Attainment in Adults Has Anticipated Associations with School Performance in Children , 2014, PloS one.
[7] Andrew D. Johnson,et al. Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche , 2014, Nature.
[8] Sven Bergmann,et al. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. , 2014, American journal of human genetics.
[9] Adam J. Schwarz,et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls , 2013, Nature.
[10] Lars Feuk,et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..
[11] Niklas Krumm,et al. Transmission disequilibrium of small CNVs in simplex autism. , 2013, American journal of human genetics.
[12] J. Rosenfeld,et al. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits , 2013, Genome research.
[13] Jonathan P. Beauchamp,et al. GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment , 2013, Science.
[14] A. McRae,et al. No Association Between General Cognitive Ability and Rare Copy Number Variation , 2013, Behavior genetics.
[15] P. Sullivan,et al. No Effect of Genome-Wide Copy Number Variation on Measures of Intelligence in a New Zealand Birth Cohort , 2013, PloS one.
[16] Manuel Corpas,et al. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. , 2012, Human molecular genetics.
[17] Allison G. Dempsey,et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders , 2012, Journal of Medical Genetics.
[18] A. Reymond,et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant , 2012, Nature.
[19] D. Lawlor,et al. Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children , 2012, International journal of epidemiology.
[20] C. Hoggart,et al. Genomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Synthase , 2012, Hypertension.
[21] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[22] P. Elliott,et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus , 2011, Nature.
[23] D. Posthuma,et al. Reconsidering the Heritability of Intelligence in Adulthood: Taking Assortative Mating and Cultural Transmission into Account , 2011, Behavior genetics.
[24] Swaroop Aradhya,et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities , 2011, Genetics in Medicine.
[25] Gregory M. Cooper,et al. A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.
[26] M. Jarvelin,et al. Phenotype mining in CNV carriers from a population cohort. , 2011, Human molecular genetics.
[27] Shekhar Saxena,et al. Prevalence of intellectual disability: a meta-analysis of population-based studies. , 2011, Research in developmental disabilities.
[28] Timothy J. Durham,et al. "Systematic" , 1966, Comput. J..
[29] Insuk Lee,et al. Characterising and Predicting Haploinsufficiency in the Human Genome , 2010, PLoS genetics.
[30] Takashi Makino,et al. Ohnologs in the human genome are dosage balanced and frequently associated with disease , 2010, Proceedings of the National Academy of Sciences.
[31] Tomas W. Fitzgerald,et al. Origins and functional impact of copy number variation in the human genome , 2010, Nature.
[32] I. Deary,et al. The neuroscience of human intelligence differences , 2010, Nature Reviews Neuroscience.
[33] M. Hurles,et al. Large, rare chromosomal deletions associated with severe early-onset obesity , 2010, Nature.
[34] Gail Clement,et al. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. , 2009, Human molecular genetics.
[35] P. Stankiewicz,et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size , 2009, Journal of Medical Genetics.
[36] Jessica R. Wolff,et al. Microduplications of 16p11.2 are Associated with Schizophrenia , 2009, Nature Genetics.
[37] R. Mägi,et al. Genetic Structure of Europeans: A View from the North–East , 2009, PloS one.
[38] A. Reymond,et al. Copy number variants, diseases and gene expression. , 2009, Human molecular genetics.
[39] Charlotte N. Henrichsen,et al. Segmental copy number variation shapes tissue transcriptomes , 2009, Nature Genetics.
[40] Sharon J. Diskin,et al. Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms , 2008, Nucleic acids research.
[41] Joshua M. Korn,et al. Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.
[42] 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.
[43] Charlotte N. Henrichsen,et al. Side effects of genome structural changes. , 2007, Current opinion in genetics & development.
[44] R. Redon,et al. Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes , 2007, Science.
[45] W. Iacono,et al. The Environments of Adopted and Non-adopted Youth: Evidence on Range Restriction From the Sibling Interaction and Behavior Study (SIBS) , 2007, Behavior genetics.
[46] K. Gunderson,et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. , 2006, Genome research.
[47] M McGue,et al. Behavioral disinhibition and the development of substance-use disorders: Findings from the Minnesota Twin Family Study , 1999, Development and Psychopathology.
[48] J. Lupski. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. , 1998, Trends in genetics : TIG.
[49] Nathan Brody,et al. Intelligence, schooling, and society. , 1997 .
[50] K. Roeder,et al. The heritability of IQ , 1997, Nature.
[51] J. Sattler. Assessment of Children , 1992 .
[52] J. Matarazzo,et al. Relationship of Education and IQ in the WAIS-R Standardization Sample. , 1984 .
[53] W. Iacono,et al. Low-Frequency Copy-Number Variants and General Cognitive Ability: No Evidence of Association. , 2014, Intelligence.
[54] Charlotte N. Henrichsen,et al. Copy number variation modifies expression time courses. , 2011, Genome research.
[55] Anna Vignoles,et al. Estimating the Relationship between School Resources and Pupil Attainment at Key Stage 3 , 2005 .