Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis

(2019) Marie Ryan et al.   JAMA Neurology

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

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains

(2018) Michael J Keogh et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens

(2018) Lyndal Henden et al.   PLoS Genetics

The multistep hypothesis of ALS revisited

(2018) Adriano Chiò et al.   NEUROLOGY

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

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

(2017) Holly A. Black et al.   NEUROBIOLOGY OF AGING

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

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

(2017) Beben Benyamin et al.   Nature Communications

NEK1mutations in familial amyotrophic lateral sclerosis

(2016) David Brenner et al.   BRAIN

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing

(2016) Hee-Jung Kim et al.   NEUROBIOLOGY OF AGING

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

(2014) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

Pathophysiological insights into ALS with C9ORF72 expansions

(2013) K. L. Williams et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2

(2011) P. Van Damme et al.   NEUROLOGY

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

(2011) Alan E. Renton et al.   NEURON

The Heritability of Amyotrophic Lateral Sclerosis in a Clinically Ascertained United States Research Registry

(2011) Thomas S. Wingo et al.   PLoS One

Effects of gender in amyotrophic lateral sclerosis

(2010) Pamela A. McCombe et al.   Gender Medicine

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY