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List of works by Benjamin M. Neale

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

scientific article published on June 2017
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

scientific article published on July 2010
Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings

scientific article published on 24 April 2008
Genetic analysis of schizophrenia and bipolar disorder reveals polygenicity but also suggests new directions for molecular interrogation

scientific article published on 24 December 2014
De Novo Coding Variants Are Strongly Associated with Tourette Disorder

scientific article published in May 2017
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

scientific article published on 21 March 2019
A global overview of pleiotropy and genetic architecture in complex traits

scientific article published on 19 August 2019
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

scientific article
A genome scan of neuroticism in nicotine dependent smokers

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

scientific article published on 19 December 2018
Genetic evidence of assortative mating in humans

scholarly article
The structure of perfectionism: a twin study

scientific article published in September 2004
Genetic research in autism spectrum disorders

scientific article
Predicting Polygenic Risk of Psychiatric Disorders

scientific article published on 28 December 2018
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

scientific article published on January 26, 2015
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment

scientific article published on 28 January 2019
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

scientific article published on 01 December 2018
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.

scientific article published on 18 March 2017
Comparative genetic architectures of schizophrenia in East Asian and European populations

scientific article published on 18 November 2019
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder

scientific article published on 2 December 2017
A synthetic-diploid benchmark for accurate variant-calling evaluation

scientific article
Phenotypic extremes in rare variant study designs

scientific article published on September 9, 2015
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases

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

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

scientific article published in April 2005
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

scientific article published on 08 October 2019
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

scientific article published in Nature Communications
A note on the parameterization of Purcell's G x E model for ordinal and binary data

scientific article
Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

scientific article published in December 2017
The positives, protocols, and perils of genome-wide association

scientific article published on October 2008
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder

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

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

scientific article
Exome sequencing in suspected monogenic dyslipidemias

scientific article
Discovery of rare variants for complex phenotypes.

scientific article published on 24 May 2016
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior

scientific article published on 29 August 2019
Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD.

scientific article published in December 2008
Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation

scientific article published on March 2017
A structural variation reference for medical and population genetics

scientific article published on 27 May 2020
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

scientific article
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
Analysis of shared heritability in common disorders of the brain

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

scientific article published on 01 September 2018
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

scientific article published on 05 November 2018
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
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016
Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

scholarly article published 3 June 2017
Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

scientific article published on 01 March 2019

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