Title : Copy number variations and cognitive phenotypes in unselected populations

[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 .