Identification of common genetic risk variants for autism spectrum disorder

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

(2018) Naomi R. Wray et al.   NATURE GENETICS

Multi-trait analysis of genome-wide association summary statistics using MTAG

(2018) Patrick Turley et al.   NATURE GENETICS

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

(2018) Antonio F. Pardiñas et al.   NATURE GENETICS

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

(2018) Pamela Feliciano et al.   NEURON

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

(2018) Ditte Demontis et al.   NATURE GENETICS

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties

(2017) B St Pourcain et al.   MOLECULAR PSYCHIATRY

The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders

(2017) C B Pedersen et al.   MOLECULAR PSYCHIATRY

Genetic contributions to self-reported tiredness

(2017) V Deary et al.   MOLECULAR PSYCHIATRY

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

(2017) Suzanne Sniekers et al.   NATURE GENETICS

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

(2017)   Molecular Autism

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

(2016) Bàrbara Torrico et al.   Autism Research

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

(2016) Jie Zheng et al.   BIOINFORMATICS

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

(2016) Ryan N. Doan et al.   CELL

Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151)

(2016) G Davies et al.   MOLECULAR PSYCHIATRY

Chromosome conformation elucidates regulatory relationships in developing human brain

(2016) Hyejung Won et al.   NATURE

Genome-wide changes in lncRNA, splicing and regional gene expression patterns in autism

(2016) Neelroop N. Parikshak et al.   NATURE

Genome-wide association study identifies 74 loci associated with educational attainment

(2016) Aysu Okbay et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

(2016) Aysu Okbay et al.   NATURE GENETICS

Identification of 15 genetic loci associated with risk of major depression in individuals of European descent

(2016) Craig L Hyde et al.   NATURE GENETICS

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

(2016) Elise B Robinson et al.   NATURE GENETICS

The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity

(2016) Sarah Mas-y-Mas et al.   PLoS One

PTBP1 and PTBP2 Serve Both Specific and Redundant Functions in Neuronal Pre-mRNA Splicing

(2016) John K. Vuong et al.   Cell Reports

Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci

(2016) Samuel E. Jones et al.   PLoS Genetics

The IgLON Family Member Negr1 Promotes Neuronal Arborization Acting as Soluble Factor via FGFR2

(2016) Francesca Pischedda et al.   Frontiers in Molecular Neuroscience

Genome-wide association study of schizophrenia in Ashkenazi Jews

(2015) Fernando S. Goes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

(2015) Pauline Chaste et al.   BIOLOGICAL PSYCHIATRY

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population

(2015) T-K Clarke et al.   MOLECULAR PSYCHIATRY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Meta-analysis of the heritability of human traits based on fifty years of twin studies

(2015) Tinca J C Polderman et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

Small-Conductance Ca2+-Activated Potassium Type 2 Channels Regulate the Formation of Contextual Fear Memory

(2015) Saravana R. K. Murthy et al.   PLoS One

Discontinuity in the genetic and environmental causes of the intellectual disability spectrum

(2015) Abraham Reichenberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis

(2015) Jiandong Sun et al.   Cell Reports

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

CAPS-1 promotes fusion competence of stationary dense-core vesicles in presynaptic terminals of mammalian neurons

(2015) Margherita Farina et al.   eLife

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level

(2015) Qingqin S. Li et al.   PLoS One

Identifying Causal Variants at Loci with Multiple Signals of Association

(2014) F. Hormozdiari et al.   GENETICS

IgLON Cell Adhesion Molecules Are Shed from the Cell Surface of Cortical Neurons to Promote Neuronal Growth

(2014) Ricardo Sanz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Cell Surface Biotinylation Assay to Reveal Membrane-associated Neuronal Cues: Negr1 Regulates Dendritic Arborization

(2014) Francesca Pischedda et al.   MOLECULAR & CELLULAR PROTEOMICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Large-scale genomics unveils the genetic architecture of psychiatric disorders

(2014) Jacob Gratten et al.   NATURE NEUROSCIENCE

Transcriptional enhancers: from properties to genome-wide predictions

(2014) Daria Shlyueva et al.   NATURE REVIEWS GENETICS

Gene Ontology Consortium: going forward

(2014)   NUCLEIC ACIDS RESEARCH

Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

(2014) C. A. Rietveld et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

(2014) Elise B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased Small Conductance Calcium-Activated Potassium Type 2 Channel-Mediated Negative Feedback on N-methyl-D-aspartate Receptors Impairs Synaptic Plasticity Following Context-Dependent Sensitization to Morphine

(2013) Amanda K. Fakira et al.   BIOLOGICAL PSYCHIATRY

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci

(2013) A D Børglum et al.   MOLECULAR PSYCHIATRY

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

(2013) S Hong Lee et al.   NATURE GENETICS

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

(2013) Sonja I Berndt et al.   NATURE GENETICS

Macrodomain-containing proteins: regulating new intracellular functions of mono(ADP-ribosyl)ation

(2013) Karla L. H. Feijs et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Solution NMR Structure and Histone Binding of the PHD Domain of Human MLL5

(2013) Alexander Lemak et al.   PLoS One

Molecular basis for chromatin binding and regulation of MLL5

(2013) M. Ali et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

zCall: a rare variant caller for array-based genotyping

(2012) Jacqueline I. Goldstein et al.   BIOINFORMATICS

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

PSD-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2

(2012) Sika Zheng et al.   NATURE NEUROSCIENCE

Comprehensive literature review and statistical considerations for GWAS meta-analysis

(2012) Ferdouse Begum et al.   NUCLEIC ACIDS RESEARCH

Functional Inactivation of the Genome-Wide Association Study Obesity Gene Neuronal Growth Regulator 1 in Mice Causes a Body Mass Phenotype

(2012) Angela W. S. Lee et al.   PLoS One

Estimating Missing Heritability for Disease from Genome-wide Association Studies

(2011) Sang Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source

(2011) Mads V Hollegaard et al.   BMC GENETICS

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Do common variants play a role in risk for autism? Evidence and theoretical musings

(2010) Bernie Devlin et al.   BRAIN RESEARCH

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

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

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Changing the Landscape of Autism Research: The Autism Genetic Resource Exchange

(2010) Clara M. Lajonchere   NEURON

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

Genome-wide scans using archived neonatal dried blood spot samples

(2009) Mads V Hollegaard et al.   BMC GENOMICS

IgLON cell adhesion molecules regulate synaptogenesis in hippocampal neurons

(2009) Takashi Hashimoto et al.   CELL BIOCHEMISTRY AND FUNCTION

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Long-Range LD Can Confound Genome Scans in Admixed Populations

(2008) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

IgLON cell adhesion molecule Kilon is a crucial modulator for synapse number in hippocampal neurons

(2008) Takashi Hashimoto et al.   BRAIN RESEARCH

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

(2008) Gudmar Thorleifsson et al.   NATURE GENETICS

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS

SK2 channel plasticity contributes to LTP at Schaffer collateral–CA1 synapses

(2008) Mike T Lin et al.   NATURE NEUROSCIENCE

Genome-Wide Survey and Developmental Expression Mapping of Zebrafish SET Domain-Containing Genes

(2008) Xiao-Jian Sun et al.   PLoS One