Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

(2021) Sara Saez-Atienzar et al.   Science Advances

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

(2021) Urmo Võsa et al.   NATURE GENETICS

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3

(2020) Yasuaki Watanabe et al.   iScience

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

(2020) Ryoichi Nakamura et al.   Communications Biology

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

(2020) Mark K. Bakker et al.   NATURE GENETICS

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

(2019) Mengzhen Liu et al.   NATURE GENETICS

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

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

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove 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

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

(2019) Sara Bandres‐Ciga et al.   ANNALS OF NEUROLOGY

Smoking is a cause of ALS. High LDL‐cholesterol levels? Unsure

(2019) Carmel Armon   ANNALS OF NEUROLOGY

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

(2019) Dongmei Yu et al.   AMERICAN JOURNAL OF PSYCHIATRY

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

(2019) Eli A. Stahl et al.   NATURE GENETICS

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

(2019) Hunna J. Watson et al.   NATURE GENETICS

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

(2019) Rick A.A. van der Spek et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis

(2019) Marie Ryan et al.   JAMA Neurology

Conserved cell types with divergent features in human versus mouse cortex

(2019) Rebecca D. Hodge et al.   NATURE

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

(2019)   SCIENCE

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

(2019) Caroline M. Nievergelt et al.   Nature Communications

CpGtools: a python package for DNA methylation analysis

(2019) Ting Wei et al.   BIOINFORMATICS

Causal association of type 2 diabetes with amyotrophic lateral sclerosis: new evidence from Mendelian randomization using GWAS summary statistics

(2019) Ping Zeng et al.   BMC Medicine

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

Cholesterol impairs autophagy-mediated clearance of amyloid beta while promoting its secretion

(2018) Elisabet Barbero-Camps et al.   Autophagy

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

Improving the visualization, interpretation and analysis of two-sample summary data Mendelian randomization via the Radial plot and Radial regression

(2018) Jack Bowden et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

(2018) Naomi R. Wray et al.   NATURE GENETICS

Signatures of negative selection in the genetic architecture of human complex traits

(2018) Jian Zeng et al.   NATURE GENETICS

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

(2018) Rainer Malik et al.   NATURE GENETICS

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

(2018) Alvaro N. Barbeira et al.   Nature Communications

Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

(2018) Neil M Davies et al.   BMJ-British Medical Journal

Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

(2018) Neil M Davies et al.   BMJ-British Medical Journal

The MR-Base platform supports systematic causal inference across the human phenome

(2018) Gibran Hemani et al.   eLife

GWAS on family history of Alzheimer’s disease

(2018) Riccardo E. Marioni et al.   Translational Psychiatry

Molecular Diversity and Specializations among the Cells of the Adult Mouse Brain

(2018) Arpiar Saunders et al.   CELL

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

(2018) Jason A. Chen et al.   Molecular Neurodegeneration

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

(2018) Wei Zhou et al.   NATURE GENETICS

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

(2018) Evangelos Evangelou et al.   NATURE GENETICS

Leveraging DNA-Methylation Quantitative-Trait Loci to Characterize the Relationship between Methylomic Variation, Gene Expression, and Complex Traits

(2018) Eilis Hannon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

(2018) Symen Ligthart et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An examination of multivariable Mendelian randomization in the single-sample and two-sample summary data settings

(2018) Eleanor Sanderson et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

(2018) Ditte Demontis et al.   NATURE GENETICS

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Collider scope: when selection bias can substantially influence observed associations

(2017) Marcus R Munafò et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

Revealing the complex genetic architecture of obsessive–compulsive disorder using meta-analysis

(2017) Paul D Arnold et al.   MOLECULAR PSYCHIATRY

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

(2017) Yang Luo et al.   NATURE GENETICS

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

(2017) Beben Benyamin et al.   Nature Communications

Orienting the causal relationship between imprecisely measured traits using GWAS summary data

(2017) Gibran Hemani et al.   PLoS Genetics

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease

(2017) Pim van der Harst et al.   CIRCULATION RESEARCH

Transethnic Genetic-Correlation Estimates from Summary Statistics

(2016) Brielin C. Brown et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NEK1mutations in familial amyotrophic lateral sclerosis

(2016) David Brenner et al.   BRAIN

Meta-analysis of genome-wide association studies of anxiety disorders

(2016) T Otowa et al.   MOLECULAR PSYCHIATRY

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

(2016) Kevin P Kenna et al.   NATURE GENETICS

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics

(2016) David Lamparter et al.   PLoS Computational Biology

The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair

(2015) Xiao Fang et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Multivariable Mendelian Randomization: The Use of Pleiotropic Genetic Variants to Estimate Causal Effects

(2015) S. Burgess et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

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

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

A survey of human brain transcriptome diversity at the single cell level

(2015) Spyros Darmanis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

(2015) Naomi Kouri et al.   Nature Communications

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage

(2014) Daniel Woo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

(2014) Frank P. Diekstra et al.   ANNALS OF NEUROLOGY

Mendelian randomization: genetic anchors for causal inference in epidemiological studies

(2014) G. Davey Smith et al.   HUMAN MOLECULAR GENETICS

Prior medical conditions and the risk of amyotrophic lateral sclerosis

(2014) Meinie Seelen et al.   JOURNAL OF NEUROLOGY

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Protein aggregation in amyotrophic lateral sclerosis

(2013) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

(2012) Susan Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

Cardiovascular fitness as a risk factor for amyotrophic lateral sclerosis: indirect evidence from record linkage study: Table 1

(2011) Martin R Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

Altered lipid content inhibits autophagic vesicular fusion

(2010) Hiroshi Koga et al.   FASEB JOURNAL

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Autophagy regulates lipid metabolism

(2009) Rajat Singh et al.   NATURE

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Mutant SOD1 in cell types other than motor neurons and oligodendrocytes accelerates onset of disease in ALS mice

(2008) K. Yamanaka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA