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Authors whose works are in public domain in at least one jurisdiction

List of works by Benjamin M. Neale

151-200 of 289 results

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

article

Quantifying the Genetic Correlation between Multiple Cancer Types

scientific article published on 21 June 2017

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

Population differences in the International Multi-Centre ADHD Gene Project

article

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

scientific article published on 25 November 2019

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

scientific article

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

scientific article

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

scientific article

Genetic Markers of ADHD-Related Variations in Intracranial Volume

scientific article published on 01 March 2019

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

article

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

scientific article published on 19 December 2017

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

scientific article published on 01 February 2020

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

scientific article published in October 2016

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders

scientific article

Meta-analysis of genome-wide association studies

scientific article published on 01 June 2010

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

scientific article published in August 2018

Statistical Properties of Single-Marker Tests for Rare Variants

scientific article published on April 17, 2014

MTAG: Multi-Trait Analysis of GWAS

Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs

scientific article published on December 14, 2001

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

scientific article

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

scientific article published on 20 March 2013

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

scientific article

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

Common risk variants identified in autism spectrum disorder

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

scientific article

Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors

scientific article published on 2 December 2015

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

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

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

scientific article published on 15 July 2016

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

scientific article published on 13 April 2016

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

scientific article published on 25 November 2019

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

article

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

Correction: Phenome-wide heritability analysis of the UK Biobank

scientific article published on 9 February 2018

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

scientific article published on 13 January 2020

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

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

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

scientific article published on 01 August 2018

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

article published in 2017

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

scientific article published on 01 February 2020

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

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

scientific article published in Nature Communications

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

scientific article

Rare coding variants in ten genes confer substantial risk for schizophrenia

article

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

scientific article published on 24 January 2019

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

scientific article published on 16 March 2018

Perspective on the genetics of attention deficit/hyperactivity disorder

scientific article published in December 2008

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

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

scientific article published on 13 September 2016

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

scientific article published on 31 December 2018