Benjamin M. Neale

Benjamin M. Neale's AcademicInfluence.com Rankings

Benjamin M. Neale

Biology

#5178

World Rank

#7601

Historical Rank

Genetics

#457

World Rank

#527

Historical Rank

biology Degrees

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Biology

Benjamin M. Neale's Degrees

Bachelors Biochemistry University of Oxford
PhD Genetics University of Oxford

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Benjamin M. Neale's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

PLINK: a tool set for whole-genome association and population-based linkage analyses. (2007) (25309)
Biological Insights From 108 Schizophrenia-Associated Genetic Loci (2014) (6445)
The mutational constraint spectrum quantified from variation in 141,456 humans (2019) (4530)
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies (2014) (3142)
An Atlas of Genetic Correlations across Human Diseases and Traits (2015) (2653)
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis (2013) (2439)
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. (2014) (2344)
Synaptic, transcriptional, and chromatin genes disrupted in autism (2014) (2080)
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases (2018) (1833)
Genome-wide association study identifies five new schizophrenia loci (2011) (1680)
Patterns and rates of exonic de novo mutations in autism spectrum disorders (2012) (1645)
Partitioning heritability by functional annotation using genome-wide association summary statistics (2015) (1615)
Genome-wide Association Analysis Identifies 14 New Risk Loci for Schizophrenia (2013) (1455)
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder (2018) (1248)
Clinical use of current polygenic risk scores may exacerbate health disparities (2019) (1221)
Identification of common genetic risk variants for autism spectrum disorder (2019) (1140)
A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (2016) (1125)
Efficient Bayesian mixed model analysis increases association power in large cohorts (2014) (1114)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2018) (1064)
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (2019) (1048)
A mega-analysis of genome-wide association studies for major depressive disorder (2013) (979)
The genetic architecture of type 2 diabetes (2016) (927)
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. (2017) (923)
A framework for the interpretation of de novo mutation in human disease (2014) (869)
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. (2015) (858)
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) (775)
Common variants associated with plasma triglycerides and risk for coronary artery disease (2013) (767)
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease (2011) (747)
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2016) (736)
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
The future of association studies: gene-based analysis and replication. (2004) (632)
Genome-wide association identifies multiple ulcerative colitis susceptibility loci (2010) (621)
Testing for an Unusual Distribution of Rare Variants (2011) (595)
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis (2007) (592)
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types (2017) (578)
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013) (568)
Searching for missing heritability: Designing rare variant association studies (2014) (564)
Author Correction: A global overview of pleiotropy and genetic architecture in complex traits (2018) (551)
Practical aspects of imputation-driven meta-analysis of genome-wide association studies. (2008) (551)
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes (2006) (550)
Common variants at CD40 and other loci confer risk of rheumatoid arthritis (2008) (550)
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries (2012) (543)
Pervasive Sharing of Genetic Effects in Autoimmune Disease (2011) (537)
Multi-trait analysis of genome-wide association summary statistics using MTAG (2017) (525)
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes (2017) (517)
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. (2014) (510)
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. (2010) (459)
Mapping the human genetic architecture of COVID-19 (2021) (455)
Mapping the human genetic architecture of COVID-19 (2021) (455)
Variation in complement factor 3 is associated with risk of age-related macular degeneration (2007) (443)
Genome-wide association studies in ADHD (2009) (435)
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) (2010) (426)
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico (2013) (419)
Erratum: Detection and interpretation of shared genetic influences on 42 human traits (2016) (417)
Exome sequencing and the genetic basis of complex traits (2012) (409)
Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance components analysis (2015) (397)
A structural variation reference for medical and population genetics (2020) (394)
A structural variation reference for medical and population genetics (2020) (394)
Genetics of Blood Lipids Among ~300,000 Multi-Ethnic Participants of the Million Veteran Program (2018) (387)
Genome‐wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations (2008) (377)
Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders (2018) (372)
Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) (361)
Variation near complement factor I is associated with risk of advanced AMD (2009) (345)
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population (2015) (343)
Genome-wide meta-analysis identifies new susceptibility loci for migraine (2013) (336)
Comparative genetic architectures of schizophrenia in East Asian and European populations (2018) (329)
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse (2019) (328)
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights (2016) (327)
Large-scale genomic analyses link reproductive ageing to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair (2015) (308)
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) (301)
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples (2016) (296)
Revealing the complex genetic architecture of obsessive–compulsive disorder using meta-analysis (2018) (294)
Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection (2016) (293)
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture (2013) (280)
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion (2012) (279)
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration (2008) (274)
Genome‐wide association scan of attention deficit hyperactivity disorder (2008) (271)
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci (2019) (258)
Genome-wide association study of obsessive-compulsive disorder (2013) (256)
Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders (2013) (248)
Copy number variation in schizophrenia in Sweden (2014) (245)
Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria (2018) (241)
Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology (2021) (240)
Regional missense constraint improves variant deleteriousness prediction (2017) (230)
Discovery of the first genome-wide significant risk loci for ADHD (2017) (229)
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies (2019) (226)
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies (2012) (217)
The statistical properties of gene-set analysis (2016) (214)
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior (2019) (212)
zCall: a rare variant caller for array-based genotyping: Genetics and population analysis (2012) (209)
The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders (2017) (209)
Predicting Polygenic Risk of Psychiatric Disorders (2019) (207)
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
Genetic evidence of assortative mating in humans (2017) (199)
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof-of-concept and roadmap for future studies (2016) (198)
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder (2018) (196)
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder (2018) (194)
Reaction time performance in ADHD: improvement under fast-incentive condition and familial effects (2007) (192)
Faculty Opinions recommendation of Genomic risk prediction of coronary artery disease in 480,000 adults: implications for primary prevention. (2019) (187)
Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits (2017) (186)
Phenome-wide heritability analysis of the UK Biobank (2016) (183)
Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers (2020) (182)
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: Genome‐wide association study of both common and rare variants (2013) (172)
Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2018) (171)
Case-control genome-wide association study of attention-deficit/hyperactivity disorder. (2010) (168)
Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium (2015) (167)
RICOPILI: Rapid Imputation for COnsortias PIpeLIne (2019) (157)
Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) (154)
Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. (2019) (153)
Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers. (2016) (149)
Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls (2013) (143)
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects (2018) (143)
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles (2014) (141)
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. (2010) (138)
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment (2019) (138)
The IMAGE project: methodological issues for the molecular genetic analysis of ADHD (2006) (137)
High Loading of Polygenic Risk for ADHD in Children With Comorbid Aggression (2013) (137)
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder (2017) (136)
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder (2017) (136)
Conduct disorder and ADHD: Evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study (2008) (130)
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences (2014) (129)
De Novo Coding Variants Are Strongly Associated with Tourette Disorder (2017) (125)
Exome Aggregation Consortium (2016) (125)
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals (2017) (124)
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome (2016) (123)
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. (2015) (123)
Whole-genome analyses of whole-brain data: working within an expanded search space (2014) (122)
Genome‐wide association scan of the time to onset of attention deficit hyperactivity disorder (2008) (121)
Common body mass index-associated variants confer risk of extreme obesity. (2009) (119)
A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts. (2016) (118)
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae (2009) (117)
Runs of Homozygosity Implicate Autozygosity as a Schizophrenia Risk Factor (2012) (117)
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores (2015) (116)
Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (115)
ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties (2017) (112)
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. (2014) (109)
The Structure of Perfectionism: A Twin Study (2004) (108)
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
Genetic analyses identify widespread sex-differential participation bias (2020) (106)
Common risk variants identified in autism spectrum disorder (2017) (106)
A large-scale genome-wide association study meta-analysis of cannabis use disorder (2020) (104)
A synthetic-diploid benchmark for accurate variant calling evaluation (2018) (103)
Genome-wide association study of Tourette Syndrome (2012) (102)
No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF) (2004) (101)
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants (2019) (101)
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts (2019) (101)
Body dissatisfaction and drive for thinness in young adult twins. (2005) (100)
Genome‐wide association study of response to methylphenidate in 187 children with attention‐deficit/hyperactivity disorder (2008) (99)
The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls (2018) (99)
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2015) (98)
Does parental expressed emotion moderate genetic effects in ADHD? an exploration using a genome wide association scan (2008) (98)
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2015) (98)
Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders (2015) (95)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
Relationship between VNTR polymorphisms of the human dopamine transporter gene and expression in post‐mortem midbrain tissue (2007) (93)
Complement genes contribute sex-biased vulnerability in diverse illnesses (2020) (92)
Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations (2019) (92)
Transcript expression-aware annotation improves rare variant interpretation (2020) (89)
Genome‐wide association study in German patients with attention deficit/hyperactivity disorder (2011) (87)
Candidate genes for nicotine dependence via linkage, epistasis, and bioinformatics (2004) (86)
Evaluating drug targets through human loss-of-function genetic variation (2019) (86)
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia. (2019) (85)
Mapping and characterization of structural variation in 17,795 human genomes (2020) (84)
Attention-deficit/hyperactivity disorder polygenic risk scores predict attention problems in a population-based sample of children. (2014) (83)
A twin study of dietary restraint, disinhibition and hunger: an examination of the eating inventory (three factor eating questionnaire). (2003) (83)
Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders (2017) (82)
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
An open resource of structural variation for medical and population genetics (2019) (80)
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population (2016) (79)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
Common obesity risk alleles in childhood attention‐deficit/hyperactivity disorder (2013) (77)
Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls (2018) (77)
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. (2018) (76)
Comorbidity of tic disorders & ADHD (2007) (76)
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis (2018) (74)
Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. (2018) (71)
The effect of LRRK2 loss-of-function variants in humans (2020) (69)
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2017) (68)
Inherited myeloproliferative neoplasm risk impacts hematopoietic stem cells (2020) (67)
Genetic markers of ADHD-related variations in intracranial volume (2017) (67)
Partitioning heritability by functional category using GWAS summary statistics (2015) (66)
Genome-wide association study identifies 48 common genetic variants associated with handedness (2019) (65)
Genetic analysis of schizophrenia and bipolar disorder reveals polygenicity but also suggests new directions for molecular interrogation (2015) (65)
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population (2016) (64)
Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation. (2017) (64)
A cross-disorder dosage sensitivity map of the human genome (2021) (63)
A genome scan of neuroticism in nicotine dependent smokers (2005) (63)
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues. (2017) (61)
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection (2021) (61)
A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts (2020) (60)
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. (2015) (58)
Phenotypic extremes in rare variant study designs (2015) (58)
Haplotype sharing provides insights into fine-scale population history and disease in Finland (2017) (56)
Cerebral small vessel disease genomics and its implications across the lifespan (2020) (56)
The positives, protocols, and perils of genome‐wide association (2008) (56)
Common variants at CD 40 and other loci confer risk of rheumatoid arthritis (2008) (56)
Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk (2018) (55)
Publisher Correction: Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases (2018) (54)
Linkage to Chromosome 1p36 for Attention-Deficit/Hyperactivity Disorder Traits in School and Home Settings (2008) (54)
Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent (2010) (53)
Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia (2016) (53)
Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics (2020) (52)
Exome arrays capture polygenic rare variant contributions to schizophrenia (2016) (51)
Genetic research in autism spectrum disorders (2015) (51)
Problems with Using Polygenic Scores to Select Embryos. (2021) (50)
Getting genetic ancestry right for science and society. (2021) (50)
Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families (2018) (50)
No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins (2015) (49)
Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality (2019) (48)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (48)
The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort (2014) (46)
Intentional weight loss in young adults: sex-specific genetic and environmental effects. (2005) (46)
A global overview of pleiotropy and genetic architecture in complex traits (2019) (44)
Exome Sequencing in Suspected Monogenic Dyslipidemias (2015) (44)
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis (2015) (44)
Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD (2008) (44)
Discovery of rare variants for complex phenotypes (2016) (43)
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
Current clinical use of polygenic scores will risk exacerbating health disparities (2018) (43)
PhenoSpD: an integrated toolkit for phenotypic correlation estimation and multiple testing correction using GWAS summary statistics (2017) (43)
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. (2014) (40)
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types (2018) (39)
MTAG: Multi-Trait Analysis of GWAS (2017) (38)
Quantifying the Genetic Correlation between Multiple Cancer Types (2017) (37)
Tractor uses local ancestry to enable inclusion of admixed individuals into GWAS and boost power (2020) (37)
A Note on the Parameterization of Purcell’s G × E Model for Ordinal and Binary Data (2009) (36)
Statistical genetics : gene mapping through linkage and association (2007) (35)
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia (2015) (34)
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations (2020) (34)
Will haplotype maps be useful for finding genes? (2004) (34)
Nonpaternity in linkage studies of extremely discordant sib pairs. (2002) (34)
Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum (2021) (33)
Examining Sex-Differentiated Genetic Effects Across Neuropsychiatric and Behavioral Traits (2020) (33)
Genome-wide association study of obsessive-compulsive disorder (2013) (33)
Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies (2018) (32)
On genome-wide association studies for family-based designs: an integrative analysis approach combining ascertained family samples with unselected controls. (2010) (32)
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides (2017) (31)
A polygenic resilience score moderates the genetic risk for schizophrenia (2019) (31)
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion (2019) (31)
Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach (2009) (31)
Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations (2021) (31)
Hidden ‘risk’ in polygenic scores: clinical use today could exacerbate health disparities (2018) (31)
Polygenic risk for schizophrenia and neurocognitive performance in patients with schizophrenia (2018) (31)
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes (2022) (31)
Meta-analysis of genome-wide association studies. (2010) (30)
Genome-wide autozygosity is associated with lower general cognitive ability (2016) (30)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine (2020) (29)
ASD and ADHD have a similar burden of rare protein-truncating variants (2018) (29)
The genetics of neuropsychiatric diseases: looking in and beyond the exome. (2015) (29)
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder (2011) (28)
A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
The genetic architecture of sporadic and multiple consecutive miscarriage (2020) (27)
Population differences in the International Multi‐Centre ADHD Gene Project (2008) (26)
GENOME-WIDE ANALYSES OF ADHD IDENTIFY 27 RISK LOCI, REFINE THE GENETIC ARCHITECTURE AND IMPLICATE SEVERAL COGNITIVE DOMAINS (2022) (26)
Synaptic processes and immune-related pathways implicated in Tourette syndrome (2020) (26)
Non-parametric polygenic risk prediction using partitioned GWAS summary statistics (2018) (26)
Insights from complex trait fine-mapping across diverse populations (2021) (26)
Synaptic processes and immune-related pathways implicated in Tourette syndrome (2020) (26)
Complement genes contribute sex-biased vulnerability in diverse disorders (2020) (25)
Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2016) (25)
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample (2013) (25)
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia (2022) (24)
Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth (2008) (24)
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology (2018) (24)
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. (2018) (24)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
Haplotypes of common SNPs can explain missing heritability of complex diseases (2015) (23)
Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache (2020) (23)
No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study (2016) (22)
Genome-wide association study identifies 30 loci associated with bipolar disorder (2019) (22)
Regulatory variants explain much more heritability than coding variants across 11 common diseases (2014) (22)
Multi-trait analysis of genome-wide association summary statistics using MTAG (2018) (22)
Largest genome-wide association study for PTSD identifies genetic risk loci in European and African ancestries and implicates novel biological pathways (2018) (22)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (22)
Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes (2018) (22)
Introduction to linkage disequilibrium, the HapMap, and imputation. (2010) (22)
Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis' (2013) (21)
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders (2014) (21)
Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language (2019) (20)
Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder (2014) (20)
A framework for the detection of de novo mutations in family-based sequencing data (2016) (20)
Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies (2019) (20)
Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes (2021) (20)
An association analysis of candidate genes on chromosome 15 q11–13 and autism spectrum disorder (2006) (20)
Multipoint and single point non‐parametric linkage analysis with imperfect data (2003) (19)
EXOME SEQUENCING IN BIPOLAR DISORDER REVEALS SHARED RISK GENE AKAP11 WITH SCHIZOPHRENIA (2021) (19)
GWAS Significance Thresholds for Deep Phenotyping Studies Can Depend Upon Minor Allele Frequencies and Sample Size (2020) (19)
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases (2018) (19)
A synthetic-diploid benchmark for accurate variant-calling evaluation (2017) (18)
Widespread pleiotropy confounds causal relationships between complex traits and diseases inferred from Mendelian randomization (2017) (18)
Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality (2007) (18)
Subtle stratification confounds estimates of heritability from rare variants (2016) (18)
Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length (2018) (17)
Meta-analysis fine-mapping is often miscalibrated at single-variant resolution (2022) (17)
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder (2013) (17)
Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers (2019) (17)
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. (2016) (17)
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia (2017) (17)
Statistical Properties of Single-Marker Tests for Rare Variants (2014) (16)
Erratum: Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia (2016) (16)
Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families (2017) (16)
A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies. (2020) (16)
Genome-wide risk prediction of common diseases across ancestries in one million people (2022) (16)
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (2021) (16)
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders (2018) (15)
Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder (2021) (15)
Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations (2021) (14)
Advanced Paternal Age and Early Onset of Schizophrenia in Sporadic Cases: Not Confounded by Parental Polygenic Risk for Schizophrenia (2019) (14)
Genome-wide association study of pediatric obsessive-compulsive traits: shared genetic risk between traits and disorder (2019) (14)
Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors (2015) (14)
Incorporating family history of disease improves polygenic risk scores in diverse populations (2021) (13)
Erratum: Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia (2017) (13)
A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Paediatric Cohorts (2016) (13)
A genome-wide association study for shared risk across major psychiatric disorders in a nation-wide birth cohort implicates fetal neurodevelopment as a key mediator (2017) (13)
Corrigendum: Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia (Molecular Psychiatry (2017) 22 (1502-1508) DOI: 10.1038/mp.2016.97) (2018) (13)
Non‐random error in genotype calling procedures: Implications for family‐based and case–control genome‐wide association studies (2008) (12)
Correction: Phenome-wide heritability analysis of the UK Biobank (2018) (11)
An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks (2020) (10)
Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study (2016) (10)
New mutations, old statistical challenges (2017) (10)
Erratum: Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations (The American Journal of Human Genetics (2020) 107(4) (583–588), (S000292972030286X), (10.1016/j.ajhg.2020.08.017)) (2020) (10)
No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF) (2004) (10)
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes (2006) (10)
Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity (2021) (9)
Significance testing for small annotations in stratified LD-Score regression (2021) (9)
Erratum: Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families (Neuron (2018) 98(4) (743–753.e4), (S0896627318303222) (10.1016/j.neuron.2018.04.014)) (2018) (9)
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples (2017) (9)
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022) (9)
Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases (2022) (8)
Cross-disorder GWAS meta-analysis for Attention Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Obsessive Compulsive Disorder, and Tourette Syndrome (2019) (8)
The value of four mental health self-report scales in predicting interview-based mood and anxiety disorder diagnoses in sibling pairs. (2005) (8)
Recent advances in understanding of attention deficit hyperactivity disorder (ADHD): how genetics are shaping our conceptualization of this disorder. (2019) (8)
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia (2021) (8)
Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies (2020) (8)
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome (2022) (7)
Estimating heritability of complex traits in admixed populations with summary statistics (2018) (7)
Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder (2021) (7)
LD hub and MR-base: online platforms for preforming LD score regression and Mendelian randomization analysis using GWAS summary data (2016) (7)
SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests (2022) (7)
Schizophrenia risk conferred by protein-coding de novo mutations (2018) (7)
De Novo Coding Variants Are Strongly Associated with Tourette Syndrome (2019) (7)
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer (2020) (7)
Perspective on the genetics of attention deficit/hyperactivity disorder (2008) (7)
Faculty Opinions recommendation of Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. (2019) (7)
Polygenic risk score from a multi-ancestry GWAS uncovers susceptibility of heart failure (2021) (7)
Corrigendum to Common body mass index-associated variants confer risk of extreme obesity [Human Molecular Genetics, 2009; 18;18, 3502-3507, 10.1093/hmg/ddp292] (2010) (7)
Genome-wide association study identifies new locus associated with OCD (2021) (7)
The Weighting is the Hardest Part: On the Behavior of the Likelihood Ratio Test and the Score Test Under a Data-Driven Weighting Scheme in Sequenced Samples (2017) (7)
Human demographic history impacts genetic risk prediction across diverse populations (2016) (7)
Elevated Common Variant Genetic Risk for Tourette Syndrome in a Densely Affected Pedigree (2021) (7)
Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls – CORRIGENDUM (2018) (6)
Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci (2011) (6)
Analysis of genetic dominance in the UK Biobank (2021) (6)
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population (2019) (5)
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups (2022) (5)
Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients (2018) (5)
Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts (2023) (5)
Meta-analysis of Scandinavian Schizophrenia Exomes (2019) (5)
The Role of Ultra-Rare Coding Variants In ADHD (2019) (5)
Exome array analysis identifies novel loci and low-frequency variants for insulin processing and secretion (2013) (5)
Findings and insights from the genetic investigation of age of first reported occurrence for complex disorders in the UK Biobank and FinnGen (2020) (5)
56 INITIAL RESULTS FROM THE META-ANALYSIS OF THE WHOLE-EXOMES OF OVER 20,000 SCHIZOPHRENIA CASES AND 45,000 CONTROLS (2019) (5)
Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities (2021) (5)
Psychological trauma and the genetic overlap between posttraumatic stress disorder and major depressive disorder (2020) (5)
Further Considerations for Power in Sibling Interaction Models (2005) (5)
Set-based rare variant association tests for biobank scale sequencing data sets (2021) (5)
Recent advances in understanding of attention deficit hyperactivity disorder (ADHD): how genetics are shaping our conceptualization of this disorder (2019) (4)
Publisher Correction: Multi-trait analysis of genome-wide association summary statistics using MTAG (2019) (4)
Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa (2021) (4)
Correction: Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria (2019) (4)
Lifelong genetically lowered sclerostin and risk of cardiovascular disease (2019) (4)
Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations (2020) (4)
Genome-wide association study identifies 48 common genetic variants associated with handedness (2020) (4)
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
Identification of risk variants and characterization of the polygenic architecture of disruptive behavior disorders in the context of ADHD (2019) (4)
Eating Disorder Working Group of the PGC , Major Depressive Disorder Working Group of the PGC , Obsessive Compulsive Disorders and Tourette Syndrome Working Group of the PGC , Schizophrenia CLOZUK , Substance Use Disorder Working Group of the PGC (2018) (4)
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information (2019) (4)
Polygenic architecture of rare coding variation across 394,783 exomes (2023) (4)
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells (2020) (4)
A data-driven medication score predicts 10-year mortality among aging adults (2020) (3)
Improving fine-mapping by modeling infinitesimal effects (2022) (3)
Common variant burden contributes significantly to the familial aggregation of migraine in 1,589 families (2017) (3)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (3)
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability (2021) (3)
Author Correction: A structural variation reference for medical and population genetics (2021) (3)
Ancestry May Confound Genetic Machine Learning: Candidate-Gene Prediction of Opioid Use Disorder as an Example (2020) (3)
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (3)
223. Genome-Wide Association Study of Posttraumatic Stress Disorder Symptom Domains in Two Cohorts of United States Army Soldiers (2017) (3)
Multi-ancestry meta-analysis identifies 2 novel loci associated with ischemic stroke and reveals heterogeneity of effects between sexes and ancestries (2022) (3)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (3)
GWAS meta-analysis highlights the hypothalamic-pituitary-gonadal axis (HPG axis) in the genetic regulation of menstrual cycle length (2018) (3)
Human-specific enrichment of schizophrenia risk-genes in callosal neurons of the developing neocortex (2021) (3)
Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology (2019) (3)
Cross-phenotype meta-analysis reveals large-scale trans-eQTLs mediating patterns of transcriptional co-regulation (2014) (3)
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (3)
Bootstrat: Population Informed Bootstrapping for Rare Variant Tests (2016) (3)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (3)
Functional partitioning of local and distal gene expression regulation in multiple human tissues (2016) (3)
Genetic Data Can Lead to Medical Discrimination: Cautionary tale of Opioid Use Disorder (2020) (3)
Response to Comment on “Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior” (2021) (3)
Author Correction: A global overview of pleiotropy and genetic architecture in complex traits (2020) (3)
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (2)
Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language (2018) (2)
Results from the largest genetic study of sexual orientation (2018) (2)
Genome studies must account for history—Response (2019) (2)
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2019) (2)
Patterns of item nonresponse behavior to survey questionnaires are systematic and have a genetic basis (2022) (2)
Polygenic architecture of rare coding variation across 400,000 exomes (2022) (2)
Clinical use of current polygenic risk scores may exacerbate health disparities (2019) (2)
Statistical Power and the Classical Twin Design (2020) (2)
Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers (2020) (2)
54EXOME SEQUENCING OF 23,851 CASES IMPLICATES NOVEL RISK GENES AND PROVIDES INSIGHTS INTO THE GENETIC ARCHITECTURE OF SCHIZOPHRENIA (2019) (2)
Gene Mapping Through Linkage and Association (2007) (2)
A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement (2022) (2)
Making Sense of Missense Mutations (2013) (2)
Faculty Opinions recommendation of Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. (2019) (2)
Unfolding The Genetic Basis of ADHD (2019) (2)
The genetic architecture of sporadic and recurrent miscarriage (2019) (2)
Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example. (2021) (2)
The Value of Four Mental Health Self-Report Scales in Predicting Interview-Based Mood and Anxiety Disorder Diagnoses in Sibling Pairs (2005) (2)
Comparative genetic architectures of schizophrenia in East Asian and European populations (2019) (2)
Natural Selection and Neuropsychiatric Disease: Theory, Observation, and Emerging Genetic Findings (2016) (2)
Rearrangements in the 22q11.2 Region: Prevalence and Population-Based Risk for Neuropsychiatric and Developmental Disorders (2019) (2)
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis (2016) (2)
Faculty Opinions recommendation of Signatures of negative selection in the genetic architecture of human complex traits. (2018) (2)
Clinical Conditions and Their Impact on Utility of Genetic Scores for Prediction of Acute Coronary Syndrome (2020) (2)
Transcript expression-aware annotation improves rare variant interpretation (2020) (1)
Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks (2022) (1)
Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies (2022) (1)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2021) (1)
EXPLORING SEX DIFFERENCES IN THE GENETICS OF UK BIOBANK PHENOTYPES (2019) (1)
Associations of CFHR 1 – CFHR 3 deletion and a CFH snp to age-related macular degeneration (2010) (1)
The Genetic Basis of Sleep and Sleep Disorders: Linkage and associations (2013) (1)
38 GENOME-WIDE META-ANALYSIS OF >14,000 ALCOHOL DEPENDENT INDIVIDUALS HIGHLIGHTS PSYCHIATRIC COMORBIDITIES (2019) (1)
Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups. (2021) (1)
A systematic review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement (2022) (1)
Ancestry: How researchers use it and what they mean by it (2023) (1)
MTAG: multi-trait analysis of GWAS implicates novel loci for depressive symptoms, neuroticism, and subjective well-being (2017) (1)
Insights from the largest genetic study of sexual orientation (2019) (1)
55 LARGE META-ANALYSIS OF SCANDINAVIAN EXOME SEQUENCING STUDIES OF SCHIZOPHRENIA (2019) (1)
A Twin Study of Dietary Restraint, Disinhibition and Hunger: An Examination of the Eating Inventory (Three Factor Eating Questionnaire) (2003) (1)
Author response: Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies (2018) (1)
Reply to: On powerful GWAS in admixed populations (2021) (1)
Faculty Opinions recommendation of Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene-based tests, genome-wide variation, and SNP heritability. (2019) (1)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
Human genetic analyses of organelles highlight the nucleus, but not the mitochondrion, in age-related trait heritability (2021) (1)
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
The weighting is the hardest part: on the behavior of the likelihood ratio test and score test under weight misspecification in rare variant association studies (2015) (1)
Correction to: Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality (2021) (1)
Epidemiology of Neuropsychiatric and Developmental Disorders of Childhood (2013) (1)
Transgenerational genomic effect of chemotherapy exposure in testicular cancer survivors. (2015) (1)
10 Meta-Analysis of Genome-WideAssociation Studies (2009) (1)
An accurate and reproducible discrimination tool for inflammatory bowel disease subtype using genetics, serologies, and smoking status: O-2. (2011) (0)
Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (2021) (0)
M79 THE INTERPLAY BETWEEN SCHIZOPHRENIA AND INTELLIGENCE POLYGENIC RISK SCORES CONTRIBUTES TO COMMUNITY FUNCTIONING IN PEOPLE WITH PSYCHOTIC DISORDER (2019) (0)
Faculty Opinions recommendation of The contribution of common genetic risk variants for ADHD to a general factor of childhood psychopathology. (2019) (0)
Harvesting HLA Region for Multiple Sclerosis Effects (2013) (0)
Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome (2023) (0)
Pitfalls in Identifying Causal Mutations for Disease (2013) (0)
SU6HYPERACTIVITY SYMPTOM IS PREDICTED BY AGE-OF-MENARCHE POLYGENIC RISK SCORE IN ADHD CHILDREN (2019) (0)
Common Variant Burden C ontributes to the Familial Aggregation of Migraine in 1 , 589 Families Highlights (2018) (0)
Faculty Opinions recommendation of Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling. (2019) (0)
REPLACING GWAS ARRAYS: CAPTURING GENOMIC DIVERSITY WITH A NOVEL WHOLE-EXOME PLUS LOW-PASS WHOLE GENOME PRODUCT (2022) (0)
84. RE-WEIGHTING HUNDREDS OF POLYGENIC SCORES IMPROVES THE PREDICTION ACCURACY OF PSYCHIATRIC DISORDERS (2022) (0)
An examination of population differences in the image sample across 47 autosomal genes implicated in psychiatric disorders (2006) (0)
Autism Sequencing Consortium (ASC) iPSYCH-BROAD Consortium Broad Institute Center for Common Disease Genomics (Broad-CCDG) (2021) (0)
25. THE ROLE OF DELETERIOUS RARE VARIANTS IN ADHD RISK (2021) (0)
Running title: Stitziel et al., Exome Sequencing in Monogenic Dyslipidemias (2015) (0)
Author response: Human genetic analyses of organelles highlight the nucleus in age-related trait heritability (2021) (0)
Age at first birth in women is genetically associated with increased risk of schizophrenia (2018) (0)
Correction (2015) (0)
Regional multi-locus association models (2007) (0)
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) (0)
Finnish Bottlenecks Enrich Risk-Conferring Deletion of TOP3β (2013) (0)
Supplementary Information for Extremely low-coverage sequencing and imputation increases power for genome-wide association studies (2012) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (2012) (0)
Mapping and characterization of structural variation in 17,795 human genomes (2020) (0)
Damaging Missense De Novo Coding Mutations Contribute To Schizophrenia Risk (2017) (0)
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (0)
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder (2018) (0)
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment (2019) (0)
Faculty Opinions recommendation of Sex: A significant risk factor for neurodevelopmental and neurodegenerative disorders. (2019) (0)
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation (vol 25, pg 1859, 2018) (2020) (0)
VKučinskas-2001-2016 (2016) (0)
Inferring compound heterozygosity from large-scale exome sequencing data (2023) (0)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale (2020) (0)
“It’s ARAP” for Type II Diabetes (2014) (0)
68THE ROLE OF DELETERIOUS ULTRA-RARE VARIANTS IN ADHD RISK (2019) (0)
THE STATISTICAL PROPERTIES OF GENE-SET ANALYSIS FOR GWAS DATA (2017) (0)
45 EXOME SEQUENCING OF 25,000 SCHIZOPHRENIA CASES IMPLICATES 10 RISK GENES, AND PROVIDES INSIGHT INTO SHARED AND DISTINCT GENETIC RISK AND BIOLOGY WITH OTHER NEURODEVELOPMENTAL DISORDERS (2019) (0)
A framework for the detection of de novo mutations in family-based sequencing data (2016) (0)
Gene Discovery in Admixed Cohorts With Tractor (2021) (0)
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2021) (0)
Differential Genetic Susceptibility to Geographic Atrophy and Choroidal Neovascularization in Age-Related Macular Degeneration (2010) (0)
Correction (2010) (0)
A method to exploit the structure of genetic ancestry space to enhance case-control studies (2016) (0)
The mutational constraint spectrum quantified from variation in 141,456 humans (2020) (0)
Testing for an unusual distribution of rare variation (2010) (0)
C URRENT OPINION Genetic research in autism spectrum disorders (2015) (0)
Integrating GWAS of ADHD and continuous ADHD-related traits (2016) (0)
The mutational constraint spectrum quantified from variation in 141,456 humans (2020) (0)
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae Citation Lowe (2009) (0)
Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder (2021) (0)
Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (0)
PNAS Plus Significance Statements (2014) (0)
Pumping Iron Alters DNA Methylation (2013) (0)
GENETICS OF SEVERE MENTAL ILLNESS IN A COLOMBIAN POPULATION ISOLATE (2019) (0)
Problems With Using Polygenic Scores to Select Embryos (2021) (0)
SU112 EVALUATION OF THE IMPACT OF ULTRA-RARE VARIANTS IN CANNABIS USE DISORDER USING EXOME SEQUENCING (2019) (0)
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum (2017) (0)
Faculty Opinions recommendation of Association of Genetic Risk Variants With Attention-Deficit/Hyperactivity Disorder Trajectories in the General Population. (2019) (0)
Correction (2018) (0)
56. GENOTYPE-PHENOTYPE ANALYSES IN 10,000 INDIVIDUALS WITH PSYCHOSIS HIGHLIGHTS COMPLEX ROLE OF ULTRA-RARE CODING VARIANTS AND COMMON POLYGENIC RISK IN PRESENTATION AND ETIOLOGY (2021) (0)
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans (2023) (0)
M69 EVALUATING THE AGE-OF-ONSET-DEPENDENT GENETIC ARCHITECTURE OF COMPLEX DISORDERS IN THE UK BIOBANK (2019) (0)
Justification and techniques for gene-based association analysis (2004) (0)
Evaluating drug targets through human loss-of-function genetic variation (2020) (0)
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects (2018) (0)
A data harmonization pipeline to leverage external controls and boost power in GWAS. (2021) (0)
Reply to Cipriani et al (2011) (0)
37 CONTRIBUTIONS OF COPY NUMBER VARIANTS TO HUMAN COMPLEX TRAITS (2019) (0)
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion (2019) (0)
Author Correction: Evaluating drug targets through human loss-of-function genetic variation (2021) (0)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (IN10-1.002) (2012) (0)
Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (0)
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer (2020) (0)
Bootstrat : Population Informed Bootstrapping for Rare Variant 1 Tests 2 3 (2016) (0)
F6GENETICS OF TREATMENT RESPONSE FOR ATOMOXETINE IN ADHD (2019) (0)
ATTENTION IS PREDICTED BY ALZHEIMER’S DISEASE POLYGENIC RISK SCORE IN TYPICALLY DEVELOPING CHILDREN MORE THAN CHILDREN WITH ATTENTION/DEFICIT-HYPERACTIVITY DISORDER (2019) (0)
SU5 IDENTIFICATION OF POLYGENIC ADAPTATION IN ATTENTION-DEFICIT/HYPERACTIVITY DISORDER USING GWAS DATA (2019) (0)
Faculty Opinions recommendation of Generation of four iPSC lines from peripheral blood mononuclear cells (PBMCs) of an attention deficit hyperactivity disorder (ADHD) individual and a healthy sibling in an Australia-Caucasian family. (2019) (0)
Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility. (2023) (0)
Chapter 9 – Association Strategies (2016) (0)
31862 Identification of SNPs within MC4R as a candidate for obesity in the Horse (2009) (0)
UPDATE ON THE ANALYSES OF THE LARGEST BIPOLAR CASE-CONTROL EXOME SEQUENCING DATASET TO DATE (2019) (0)
53. LOCAL ANCESTRY ALLOWS FOR IMPROVED GENOMIC PREDICTION IN UNDERREPRESENTED AND ADMIXED POPULATIONS (2021) (0)
Genome-wide association studies in ADHD The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters (2009) (0)
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease (2020) (0)
SA122STRUCTURAL VARIATIONS OF SCHIZOPHRENIA RISK GENE COMPLEMENT COMPONENT 4 (C4) AND BRAIN MRI PHENOTYPES (2019) (0)
Faculty Opinions recommendation of Analysis of genome-wide association data highlights candidates for drug repositioning in psychiatry. (2019) (0)
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights (2018) (0)
Author Correction: Transcript expression-aware annotation improves rare variant interpretation (2021) (0)
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
Faculty Opinions recommendation of The Familial Co-Aggregation of Attention-Deficit/Hyperactivity Disorder and Intellectual Disability: A Register-Based Family Study. (2019) (0)
S0033291718002039jra 1166..1173 (2019) (0)
Publisher Correction: Multi-trait analysis of genome-wide association summary statistics using MTAG (2019) (0)
Abstract 4611: Quantification and functional characterization of the shared heritability across multiple cancer sites: results from the GAME-ON Consortium (2015) (0)
Calling Rare Variants from Genotype Data (2015) (0)
Genetics of Adhd Dimensions (2019) (0)
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information (2019) (0)
Reverend Dr. Lindon Eaves: A Career Remembrance (2022) (0)
Elevated polygenic burden for autism is associated with differential DNA methylation at birth (2018) (0)
33 INVESTIGATING RARE PATHOGENIC/LIKELY PATHOGENIC EXONIC VARIATION IN 3,987 BIPOLAR PATIENTS (2019) (0)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2020) (0)
A structural variation reference for medical and population genetics (2020) (0)
New Biology Identified by Genetic Analysis of Nonalcoholic Fatty Liver Disease (2014) (0)
A structural variation reference for medical and population genetics (2020) (0)
Author Correction: A structural variation reference for medical and population genetics (2021) (0)
Faculty Opinions recommendation of Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. (2019) (0)
PERSPECTIVE ON DATA SHARING AND OPEN SCIENCE IN PSYCHIATRIC GENETICS (2019) (0)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (0)
Increasing Trans-Ethnic Diversity In Genome-Wide Association Meta-Analysis Of ADHD (2019) (0)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (0)
Author Correction: A structural variation reference for medical and population genetics (2021) (0)
Faculty Opinions recommendation of Phenome-wide association studies across large population cohorts support drug target validation. (2019) (0)
29GENETIC ASSOCIATIONS BETWEEN PSYCHIATRIC DISORDER RISK AND PHENOTYPIC FACTORS IN THE UK BIOBANK (2019) (0)
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
T170. Effective Multiple Test Correction (MTC) for GWAS With Large Numbers of Correlated Genotypes and Phenotypes (2019) (0)
Considerations for association analysis of multiple correlated traits and samples (2007) (0)
Molecular genetic overlap between migraine and major depressive disorder (2018) (0)
Insights from the largest genetic study of sporadic and recurrent miscarriage (2019) (0)
13. The Role of Common and Rare Variants in ADHD Risk and Genetic Overlap With Other Phenotypes (2019) (0)
51 POLYGENIC RISK FOR ADHD IS ASSOCIATED WITH READING AND SPELLING RELATED TRAITS BEYOND PLEIOTROPIC EFFECTS DUE TO EDUCATIONAL ATTAINMENT (2019) (0)
A CONTRIBUTION OF RARE COPY NUMBER VARIATIONS TO THE DEVELOPMENT OF ATTENTION DEFICIT HYPERACTIVITY DISORDER: GENOME-WIDE META-ANALYSES IN 12548 INDIVIDUALS (2019) (0)
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome (2022) (0)
Faculty Opinions recommendation of The nature of nurture: Effects of parental genotypes. (2019) (0)
The effect of LRRK2 loss-of-function variants in humans (2020) (0)
Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits (2018) (0)
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations (2023) (0)
Faculty Opinions recommendation of Translating genome-wide association findings into new therapeutics for psychiatry. (2019) (0)
Abstract 19854: Whole Genome Sequences and Plasma Lipids in 2,255 Participants (2016) (0)
6.71 ATTENTION IS PREDICTED BY ALZHEIMER’S DISEASE POLYGENIC RISK SCORE IN TYPICALLY DEVELOPING CHILDREN MORE THAN IN CHILDREN WITH ADHD (2019) (0)
A data harmonization pipeline to leverage external controls and boost power in GWAS (2020) (0)
Fitting the Genes into Your Waist (2013) (0)
Review Article The Positives, Protocols, and Perils of (2008) (0)
Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation Short: trans-eQTLs reveal patterns of transcriptional co-regulation (2016) (0)
Addendum: Genome‐wide association study in German patients with attention deficit/hyperactivity disorder (2012) (0)
T64 Genome-Wide Association Study Of Posttraumatic Stress Disorder Symptoms In Two Cohorts Of United States Army Soldiers (2017) (0)
A signal of polygenic inheritance from low frequency variants in case-control genome wide association studies elucidates genetic architecture of common diseases (2013) (0)
Cohort profile: SUPER-Finland – the Finnish study for hereditary mechanisms of psychotic disorders (2023) (0)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2020) (0)
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder (2018) (0)
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals (2018) (0)
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains (2023) (0)
Discordant genotype calls across technology platforms elucidate variants with systematic errors in next-generation sequencing (2022) (0)
T58EVALUATION OF POLYGENIC RISK SCORE PERFORMANCE IN AN ADMIXED BRAZILIAN COHORT (2019) (0)
Discovery of rare variants for complex phenotypes (2016) (0)
An association analysis of GABRB3, a candidate gene of the GABAA receptor complex on chromosome 15Q and autism spectrum disorder. [In Special Issue: XIII World Congress of Psychiatric Genetics 2005] (2005) (0)
Association Analysis (2022) (0)
Identification of common genetic risk variants for autism spectrum disorder (2019) (0)
Polygenic risk for ADHD is associated with reading- and spelling-related traits (2017) (0)
Faculty Opinions recommendation of Discoveries on the genetics of ADHD in the 21st century: new findings and their implications. (2019) (0)
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program (2018) (0)
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries (2023) (0)
The Manifestation Of Genetic Risk For Attention Deficit Hyperactivity Disorder In Females And Males In The General Population (2019) (0)
Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities (2021) (0)
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts (2020) (0)
Response to comment on “Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics” (2021) (0)
Publisher Correction: SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests (2022) (0)
University of Groningen De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Tourette (2018) (0)
A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine (2020) (0)
153. A Novel Framework for Well-Calibrated Analysis of Complex Traits in Admixed Individuals (2019) (0)
NpgRJ_Ng_2007-27 1..6 (2007) (0)
SU1 EXPLORING GENETIC VARIATION THAT INFLUENCES BRAIN METHYLATION IN ATTENTION-DEFICIT/HYPERACTIVITY DISORDER (ADHD) (2019) (0)
Author Correction: Multi-trait analysis of genome-wide association summary statistics using MTAG (2019) (0)
Author Correction: Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection (2019) (0)

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What Schools Are Affiliated With Benjamin M. Neale?

Benjamin M. Neale is affiliated with the following schools:

University of Oxford
Cardiff University
Massachusetts General Hospital
Harvard University
King's College, Aberdeen