Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

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

(2020) Konrad J. Karczewski et al.   NATURE

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

(2020) Julien Bryois et al.   NATURE GENETICS

Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses

(2020) Chris Wallace   PLoS Genetics

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

(2019) Iris E. Jansen et al.   NATURE GENETICS

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

(2019) Brian W. Kunkle et al.   NATURE GENETICS

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

(2019) Sara Bandres-Ciga et al.   MOVEMENT DISORDERS

Assessment of APOE in atypical parkinsonism syndromes

(2019) Marya S. Sabir et al.   NEUROBIOLOGY OF DISEASE

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

(2019) Mike A Nalls et al.   LANCET NEUROLOGY

Long reads: their purpose and place

(2018) Martin O Pollard et al.   HUMAN MOLECULAR GENETICS

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

(2018) Rita Guerreiro et al.   LANCET NEUROLOGY

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

(2018) Allison A. Regier et al.   Nature Communications

Comprehensive functional genomic resource and integrative model for the human brain

(2018) Daifeng Wang et al.   SCIENCE

Improving the Gene Ontology Resource to Facilitate More Informative Analysis and Interpretation of Alzheimer’s Disease Data

(2018) Barbara Kramarz et al.   Genes

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

(2017) Valerie A. Schneider et al.   GENOME RESEARCH

Diagnosis and management of dementia with Lewy bodies

(2017) Ian G. McKeith et al.   NEUROLOGY

TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation

(2017) Sarah Jinn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data: Table 1.

(2016) Xiaowei Zhan et al.   BIOINFORMATICS

Whole-Genome Sequencing of a Healthy Aging Cohort

(2016) Galina A. Erikson et al.   CELL

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

(2016) Joshua T. Geiger et al.   NEUROBIOLOGY OF DISEASE

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Loss of Bin1 Promotes the Propagation of Tau Pathology

(2016) Sara Calafate et al.   Cell Reports

Reactome from a WikiPathways Perspective

(2016) Anwesha Bohler et al.   PLoS Computational Biology

Identification of Vulnerable Cell Types in Major Brain Disorders Using Single Cell Transcriptomes and Expression Weighted Cell Type Enrichment

(2016) Nathan G. Skene et al.   Frontiers in Neuroscience

Lewy body dementias

(2015) Zuzana Walker et al.   LANCET

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

KEGG as a reference resource for gene and protein annotation

(2015) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

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Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

minimac2: faster genotype imputation

(2014) Christian Fuchsberger et al.   BIOINFORMATICS

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

(2013) Michael A. Nalls et al.   JAMA Neurology

Incidence of Dementia With Lewy Bodies and Parkinson Disease Dementia

(2013) Rodolfo Savica et al.   JAMA Neurology

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetics of Dementia With Lewy Bodies

(2012) Bram Meeus et al.   ARCHIVES OF NEUROLOGY

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

APOE ϵ4 Increases Risk for Dementia in Pure Synucleinopathies

(2012) Debby Tsuang et al.   JAMA Neurology

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci

(2011) A. Singleton et al.   HUMAN MOLECULAR GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

(2010) Sudha Seshadri   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

Genome-wide association study reveals genetic risk underlying Parkinson's disease

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic investigation of α-synuclein multiplication and parkinsonism

(2008) Owen A. Ross et al.   ANNALS OF NEUROLOGY

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

(2008) Nathan Pankratz et al.   HUMAN GENETICS