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Lista de obras de Benjamin M. Neale

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder

artículo científico publicado en 2017

A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts

artículo científico publicado en 2016

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

artículo científico publicado en 2016

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A data-driven medication score predicts 10-year mortality among aging adults

scientific article published on 25 September 2020

A framework for the detection of de novo mutations in family-based sequencing data

artículo científico publicado en 2016

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

artículo científico publicado en 2014

A genetic investigation of sex bias in the prevalence of attention deficit hyperactivity disorder

article

A genome scan of neuroticism in nicotine dependent smokers

artículo científico publicado en 2005

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment

artículo científico publicado en 2019

A global overview of pleiotropy and genetic architecture in complex traits

scientific article published on 19 August 2019

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

artículo científico publicado en 2012

A note on the parameterization of Purcell's G x E model for ordinal and binary data

artículo científico publicado en 2008

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

A structural variation reference for medical and population genetics

artículo científico publicado en 2020

A synthetic-diploid benchmark for accurate variant-calling evaluation

artículo científico publicado en 2018

A twin study of dietary restraint, disinhibition and hunger: an examination of the eating inventory (three factor eating questionnaire).

artículo científico publicado en 2003

ASD and ADHD have a similar burden of rare protein-truncating variants

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

artículo científico publicado en 2021

Advanced Paternal Age and Early Onset of Schizophrenia in Sporadic Cases: Not Confounded by Parental Polygenic Risk for Schizophrenia

scientific article published on 07 February 2019

Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality

article

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

artículo científico publicado en 2018

An atlas of genetic correlations across human diseases and traits

artículo científico publicado en 2015

An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases

artículo científico publicado en 2014

An open resource of structural variation for medical and population genetics

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

artículo científico publicado en 2013

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Analysis of shared heritability in common disorders of the brain

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study

artículo científico publicado en 2016

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

artículo científico publicado en 2010

Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality

scientific article published on 04 January 2019

Author Correction: A global overview of pleiotropy and genetic architecture in complex traits

artículo científico publicado en 2020

Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection

scientific article published on 01 August 2019

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

scientific article published on 01 August 2019

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

Body dissatisfaction and drive for thinness in young adult twins

artículo científico publicado en 2005

Candidate genes for nicotine dependence via linkage, epistasis, and bioinformatics

artículo científico publicado en 2004

Case-Control Genome-Wide Association Study of Attention-Deficit/Hyperactivity Disorder ⬇️

artículo científico publicado el 5 de agosto de 2010

Clinical use of current polygenic risk scores may exacerbate health disparities

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles

artículo científico publicado en 2014

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published 16 May 2018 in Neuron

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Common body mass index-associated variants confer risk of extreme obesity

artículo científico publicado en 2009

Common body mass index-associated variants confer risk of extreme obesity

Common obesity risk alleles in childhood attention-deficit/hyperactivity disorder.

artículo científico publicado en 2013

Common risk variants identified in autism spectrum disorder

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

artículo científico publicado en 2013

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

scientific article published on 14 September 2008

Comorbidity of tic disorders & ADHD: conceptual and methodological considerations

artículo científico publicado en 2007

Comparative genetic architectures of schizophrenia in East Asian and European populations

artículo científico publicado en 2019

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

article

Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study

scientific journal article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

artículo científico publicado en 2014

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Correction: Phenome-wide heritability analysis of the UK Biobank

artículo científico publicado en 2018

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

artículo científico publicado en 2019

Correction: Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

scientific article published on 05 December 2019

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

artículo científico publicado en 2014

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

artículo científico publicado en 2017

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

artículo científico publicado en 2018

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

artículo científico publicado en 2018

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

article published in 2017

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

artículo científico publicado en 2018

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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

artículo científico publicado en 2018

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

scholarly article published 3 June 2017

Discovery of rare variants for complex phenotypes.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

artículo científico publicado en 2018

Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language

artículo científico publicado en 2019

Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan

scientific journal article

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Erratum

scholarly article published in Genetic Epidemiology

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scholarly article published in Nature Genetics

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information

scientific article published on 01 June 2019

Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics

scientific article published on 01 June 2020

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

artículo científico publicado en 2012

Exome sequencing and the genetic basis of complex traits

artículo científico publicado en 2012

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 25 November 2019

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations

scientific article published on 13 January 2020

Exome sequencing in suspected monogenic dyslipidemias

artículo científico publicado en 2015

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

artículo científico publicado en 2012

Family-based genome-wide association scan of attention-deficit/hyperactivity disorder

scientific journal article

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.

artículo científico publicado en 2017

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

scientific article published in Nature Communications

GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology

artículo científico publicado en 2018

GWAS identifies novel risk locus for erectile dysfunction and implicates hypothalamic neurobiology and diabetes in etiology

GWAS meta-analysis highlights the hypothalamic-pituitary-gonadal axis (HPG axis) in the genetic regulation of menstrual cycle length

GWAS significance thresholds for deep phenotyping studies can depend upon minor allele frequencies and sample size

scientific article published on 17 February 2020

Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors

artículo científico publicado en 2015

Genetic Markers of ADHD-Related Variations in Intracranial Volume

artículo científico publicado en 2019

Genetic analysis of schizophrenia and bipolar disorder reveals polygenicity but also suggests new directions for molecular interrogation

artículo científico

Genetic evidence of assortative mating in humans

article

Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD.

artículo científico publicado en 2008

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

artículo científico publicado en 2016

Genetic markers of ADHD-related variations in intracranial volume

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Genetic research in autism spectrum disorders

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder

scientific article published on 07 April 2014

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

artículo científico publicado en 2018

Genome studies must account for history-Response

artículo científico publicado en 2019

Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

artículo científico publicado en 2010

Genome-wide association scan of attention deficit hyperactivity disorder

artículo científico publicado en 2008

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 scan of the time to onset of attention deficit hyperactivity disorder

artículo científico publicado en 2008

Genome-wide association studies in ADHD.

artículo científico publicado en 2009

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

artículo científico publicado en 2009

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

artículo científico publicado en 2019

Genome-wide association study identifies 48 common genetic variants associated with handedness

artículo científico publicado en 2020

Genome-wide association study in German patients with attention deficit/hyperactivity disorder

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder

artículo científico publicado en 2010

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

artículo científico publicado en 2021

Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder

artículo científico publicado en 2008

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

artículo científico publicado en 2018

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

scientific journal article

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

artículo científico publicado en 2013

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

scholarly article by Alicia R Martin et al published 3 May 2018 in American Journal of Human Genetics

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

scientific article published on 16 November 2020

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

artículo científico publicado en 2018

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

article

High loading of polygenic risk for ADHD in children with comorbid aggression

artículo científico publicado en 2013

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

artículo científico publicado en 2017

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

scientific article published on 01 October 2020

Human demographic history impacts genetic risk prediction across diverse populations

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

artículo científico publicado en 2021

Identification of common genetic risk variants for autism spectrum disorder

artículo científico publicado en 2019

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

artículo científico publicado en 2020

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

artículo científico publicado en 2018

Intentional weight loss in young adults: sex-specific genetic and environmental effects

artículo científico publicado en 2005

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

artículo científico publicado en 2022

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

scientific article published on 08 October 2019

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

artículo científico publicado en 2019

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

scientific article published on 05 November 2018

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

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

artículo científico publicado en 2013

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation

artículo científico publicado en 2017

Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior

artículo científico publicado en 2019

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

artículo científico publicado en 2018

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length

scientific article published on 01 December 2018

Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation

Largest genome-wide association study for PTSD identifies genetic risk loci in European and African ancestries and implicates novel biological pathways

article published in 2018

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.

artículo científico publicado en 2017

Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings

artículo científico publicado en 2008

MTAG: Multi-Trait Analysis of GWAS

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

artículo científico publicado en 2018

Mapping and characterization of structural variation in 17,795 human genomes

artículo científico publicado en 2020

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

artículo científico publicado en 2022

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

artículo científico publicado el 1 de agosto de 2010

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

artículo científico publicado en 2016

Meta-analysis of genome-wide association studies

artículo científico publicado en 2010

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

artículo científico publicado en 2015

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

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

artículo científico publicado en 2018

Multipoint and single point non-parametric linkage analysis with imperfect data

artículo científico publicado en 2003

Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia

artículo científico publicado en 2017

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

artículo científico publicado en 2015

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics

artículo científico publicado en 2020

Non-random error in genotype calling procedures: implications for family-based and case-control genome-wide association studies

artículo científico publicado en 2008

Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs ⬇️

artículo científico publicado el 14 de diciembre de 2001

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

On genome-wide association studies for family-based designs: an integrative analysis approach combining ascertained family samples with unselected controls

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Perspective on the genetics of attention deficit/hyperactivity disorder

artículo científico publicado en 2008

Pervasive sharing of genetic effects in autoimmune disease

artículo científico publicado en 2011

PhenoSpD: an integrated toolkit for phenotypic correlation estimation and multiple testing correction using GWAS summary statistics

artículo científico publicado en 2018

Phenome-wide heritability analysis of the UK Biobank

artículo científico publicado en 2017

Phenotypic extremes in rare variant study designs

artículo científico publicado en 2015

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

artículo científico publicado en 2019

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

scientific article published on 07 April 2020

Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants ⬇️

artículo científico publicado en 2013

Population differences in the International Multi-Centre ADHD Gene Project

article

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

artículo científico publicado en 2008

Predicting Polygenic Risk of Psychiatric Disorders

scientific article published on 28 December 2018

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

scientific article published on 07 June 2018

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

artículo científico publicado en 2018

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

artículo científico publicado en 2020

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

scientific article published on 01 July 2019

Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

artículo científico publicado en 2018

Quantifying the Genetic Correlation between Multiple Cancer Types

artículo científico

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

artículo científico publicado en 2020

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

artículo científico publicado en 2017

Rare coding variants in ten genes confer substantial risk for schizophrenia

artículo científico publicado en 2022

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

artículo científico publicado en 2013

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.

artículo científico publicado en 2014

Recent advances in understanding of attention deficit hyperactivity disorder (ADHD): how genetics are shaping our conceptualization of this disorder

scientific article published on 05 December 2019

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

artículo científico publicado en 2017

Relationship between VNTR polymorphisms of the human dopamine transporter gene and expression in post-mortem midbrain tissue

artículo científico publicado en 2007

Reply to Cipriani et al.

artículo científico publicado en 2011

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

scientific article published on 18 May 2020

Searching for missing heritability: designing rare variant association studies

artículo científico publicado en 2014

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

artículo científico publicado en 2020

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

scholarly article published 25 June 2018

Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders

artículo científico publicado en 2017

Statistical Power and the Classical Twin Design

artículo científico publicado en 2020

Statistical properties of single-marker tests for rare variants

artículo científico publicado en 2014

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

Testing for an unusual distribution of rare variants

artículo científico publicado en 2011

The IMAGE project: methodological issues for the molecular genetic analysis of ADHD.

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

The genetic architecture of sporadic and multiple consecutive miscarriage

scientific article published on 25 November 2020

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

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

The mutational constraint spectrum quantified from variation in 141,456 humans

artículo científico publicado en 2020

The mutational constraint spectrum quantified from variation in 141,456 humans

artículo científico publicado en 2019

The positives, protocols, and perils of genome-wide association

artículo científico publicado en 2008

The statistical properties of gene-set analysis

artículo científico publicado en 2016

The structure of perfectionism: a twin study

artículo científico publicado en 2004

The value of four mental health self-report scales in predicting interview-based mood and anxiety disorder diagnoses in sibling pairs

artículo científico publicado en 2005

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

scholarly article published 2 June 2015

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

scholarly article published 10 March 2018

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

artículo científico publicado en 2018

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

article

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

artículo científico publicado en 2007

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

artículo científico publicado en 2016

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

artículo científico publicado en 2017

Whole-genome analyses of whole-brain data: working within an expanded search space

artículo científico publicado en 2014

zCall: a rare variant caller for array-based genotyping: genetics and population analysis

artículo científico publicado en 2012

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