What is complex about complex disorders?

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

(2011) Qianqian Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications

(2011) Douglas F. Levinson et al.   AMERICAN JOURNAL OF PSYCHIATRY

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Genetic modifiers of neurological disease

(2011) Jennifer A Kearney   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genetics of type 2 diabetes: the GWAS era and future perspectives [Review]

(2011) Minako Imamura et al.   ENDOCRINE JOURNAL

Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype

(2011) David Roshal et al.   EPILEPSY & BEHAVIOR

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

A family-based study of common polygenic variation and risk of schizophrenia

(2011) D M Ruderfer et al.   MOLECULAR PSYCHIATRY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

(2011) Vladimir Vacic et al.   NATURE

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

Genome partitioning of genetic variation for complex traits using common SNPs

(2011) Jian Yang et al.   NATURE GENETICS

Genome-wide association study identifies five new schizophrenia loci

(2011)   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

(2011)   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

AIPMutation in Pituitary Adenomas in the 18th Century and Today

(2011) Harvinder S. Chahal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Complex genetic architecture of Drosophila aggressive behavior

(2011) L. Zwarts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

(2011) A. C. Lionel et al.   Science Translational Medicine

The Importance of Synthetic Associations Will Only Be Resolved Empirically

(2011) David B. Goldstein   PLOS BIOLOGY

Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results

(2011) Naomi R. Wray et al.   PLOS BIOLOGY

Synthetic Associations Are Unlikely to Account for Many Common Disease Genome-Wide Association Signals

(2011) Carl A. Anderson et al.   PLOS BIOLOGY

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

(2011) Rachel A. Myers et al.   PLoS Genetics

Pervasive Sharing of Genetic Effects in Autoimmune Disease

(2011) Chris Cotsapas et al.   PLoS Genetics

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease

(2010) Anne S. Bassett et al.   AMERICAN JOURNAL OF PSYCHIATRY

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

(2010) Dalia Kasperavičiūtė et al.   BRAIN

The Kraepelinian dichotomy – going, going … but still not gone

(2010) Nick Craddock et al.   BRITISH JOURNAL OF PSYCHIATRY

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Evolutionary evidence of the effect of rare variants on disease etiology

(2010) IP Gorlov et al.   CLINICAL GENETICS

The genetics of neurodevelopmental disease

(2010) Kevin J Mitchell   CURRENT OPINION IN NEUROBIOLOGY

Achondroplasia: pathogenesis and implications for future treatment

(2010) Melanie B Laederich et al.   CURRENT OPINION IN PEDIATRICS

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci

(2010) Yukinori Okada et al.   HUMAN MOLECULAR GENETICS

Genomic Analysis of Mental Illness

(2010) Jon McClellan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

(2010) Nigel M Williams et al.   LANCET

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

(2010) K-P Lesch et al.   MOLECULAR PSYCHIATRY

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Functional roles for noise in genetic circuits

(2010) Avigdor Eldar et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

(2010) Benjamin F Voight et al.   NATURE GENETICS

Tourette syndrome is associated with recurrent exonic copy number variants

(2010) S. K. Sundaram et al.   NEUROLOGY

Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease

(2010) Christopher A. Walsh et al.   NEURON

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

(2010) Amélie Bonnefond et al.   PLoS One

Strong synaptic transmission impact by copy number variations in schizophrenia

(2010) J. T. Glessner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rethinking the genetic architecture of schizophrenia

(2010) K. J. Mitchell et al.   PSYCHOLOGICAL MEDICINE

The Genome-Wide Association Study—A New Era for Common Polygenic Disorders

(2010) Robert Roberts et al.   Journal of Cardiovascular Translational Research

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

(2010) Alex Coventry et al.   Nature Communications

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

The Characterization of Twenty Sequenced Human Genomes

(2010) Kimberly Pelak et al.   PLoS Genetics

Digenic mutations in severe myoclonic epilepsy of infancy

(2009) Maija Bolszak et al.   EPILEPSY RESEARCH

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

The role of genetic variation in the causation of mental illness: an evolution-informed framework

(2009) R Uher   MOLECULAR PSYCHIATRY

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Mina, an Il4 repressor, controls T helper type 2 bias

(2009) Mariko Okamoto et al.   NATURE IMMUNOLOGY

Narrowing the Boundaries of the Genetic Architecture of Schizophrenia

(2009) N. R. Wray et al.   SCHIZOPHRENIA BULLETIN

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

(2009) Anna C. Need et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nature, Nurture, or Chance: Stochastic Gene Expression and Its Consequences

(2008) Arjun Raj et al.   CELL

A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population

(2008) Y Y Shi et al.   MOLECULAR PSYCHIATRY

Familial Parkinsonism with digenicparkinandPINK1mutations

(2008) Manabu Funayama et al.   MOVEMENT DISORDERS

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Genome-wide association analysis identifies 20 loci that influence adult height

(2008) Michael N Weedon et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

The ‘Common Disease-Common Variant’ Hypothesis and Familial Risks

(2008) Kari Hemminki et al.   PLoS One

Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis

(2008) H. Shao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome

(2008) Adam R. Boyko et al.   PLoS Genetics