List of works - Benjamin M. Neale

PLINK: a tool set for whole-genome association and population-based linkage analyses

scientific article

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

scientific article (publication date: 17 August 2016)

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

scientific article

Patterns and rates of exonic de novo mutations in autism spectrum disorders

scientific article

An atlas of genetic correlations across human diseases and traits

scientific article published on 28 September 2015

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

scientific article published on 2 February 2015

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

scientific article

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

A mega-analysis of genome-wide association studies for major depressive disorder

scientific article

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

scientific article

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

scientific article (publication date: 3 August 2014)

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

scientific article

Testing for an unusual distribution of rare variants

scientific article

Practical aspects of imputation-driven meta-analysis of genome-wide association studies

scientific article (publication date: 15 October 2008)

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scientific article

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Efficient Bayesian mixed-model analysis increases association power in large cohorts.

scientific article

The future of association studies: gene-based analysis and replication

scientific article

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

scientific journal article

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

scientific article published on 14 September 2008

Searching for missing heritability: designing rare variant association studies

scientific article published on 17 January 2014

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

Pervasive sharing of genetic effects in autoimmune disease

scientific article

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

scientific article

Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

scientific article published on August 1, 2010

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

scientific article

Exome sequencing and the genetic basis of complex traits

scientific article published on 29 May 2012

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

scientific article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

scientific article

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.

scientific article

Variation in complement factor 3 is associated with risk of age-related macular degeneration

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations

scientific journal article

Genome-wide association studies in ADHD.

scientific article published on 22 April 2009

Variation near complement factor I is associated with risk of advanced AMD

scientific article

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

scientific article published on 28 March 2017

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

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

scientific article published on 26 November 2018

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

scientific article

Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases.

scientific article published on 23 April 2018

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

Identification of common genetic risk variants for autism spectrum disorder

scientific article published on 25 February 2019

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Genome-wide association study identifies 30 loci associated with bipolar disorder.

scientific article

Genome-wide association scan of attention deficit hyperactivity disorder

scientific article

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

scientific article published on 21 March 2016

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

scientific article

List of works by Benjamin M. Neale

PLINK: a tool set for whole-genome association and population-based linkage analyses

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

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

Patterns and rates of exonic de novo mutations in autism spectrum disorders

An atlas of genetic correlations across human diseases and traits

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

Synaptic, transcriptional and chromatin genes disrupted in autism

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

A mega-analysis of genome-wide association studies for major depressive disorder

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

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

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

Testing for an unusual distribution of rare variants

Practical aspects of imputation-driven meta-analysis of genome-wide association studies

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

The genetic architecture of type 2 diabetes

Common variants associated with plasma triglycerides and risk for coronary artery disease

Efficient Bayesian mixed-model analysis increases association power in large cohorts.

The future of association studies: gene-based analysis and replication

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

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

Searching for missing heritability: designing rare variant association studies

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Pervasive sharing of genetic effects in autoimmune disease

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

Exome sequencing and the genetic basis of complex traits

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

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.

Variation in complement factor 3 is associated with risk of age-related macular degeneration

Analysis of shared heritability in common disorders of the brain

Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations

Genome-wide association studies in ADHD.

Variation near complement factor I is associated with risk of advanced AMD

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Genome-wide meta-analysis identifies new susceptibility loci for migraine

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

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases.

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Identification of common genetic risk variants for autism spectrum disorder

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Genome-wide association scan of attention deficit hyperactivity disorder

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

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis