Genetic modifiers of Mendelian disease: Huntington’s disease and the trinucleotide repeat disorders

DNA repair in the trinucleotide repeat disorders

(2017) Lesley Jones et al.   LANCET NEUROLOGY

Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease

(2017) Davina J. Hensman Moss et al.   Scientific Reports

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

(2016) Luca Bello et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

(2016) Fernando Morales et al.   DNA REPAIR

Disease-associated repeat instability and mismatch repair

(2016) Monika H.M. Schmidt et al.   DNA REPAIR

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Chromosome conformation elucidates regulatory relationships in developing human brain

(2016) Hyejung Won et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

The Fanconi anaemia pathway: new players and new functions

(2016) Raphael Ceccaldi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Huntington disease reduced penetrance alleles occur at high frequency in the general population

(2016) Chris Kay et al.   NEUROLOGY

Targeting DNA Repair in Cancer: Beyond PARP Inhibitors

(2016) Jessica S. Brown et al.   Cancer Discovery

Convergent genetic and expression data implicate immunity in Alzheimer's disease

(2015) Lesley Jones et al.   Alzheimers & Dementia

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

(2015) Luca Bello et al.   ANNALS OF NEUROLOGY

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Phenotypic extremes in rare variant study designs

(2015) Gina M Peloso et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

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

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

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

(2015) Harriet Corvol et al.   Nature Communications

MAGMA: Generalized Gene-Set Analysis of GWAS Data

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

Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease

(2015) Helen Budworth et al.   PLoS Genetics

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

(2015) Christopher C Chang et al.   GigaScience

Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

(2014) ChangJiang Xu et al.   GENETIC EPIDEMIOLOGY

Genetic modifiers of Huntington's disease

(2014) James F. Gusella et al.   MOVEMENT DISORDERS

Advantages and pitfalls in the application of mixed-model association methods

(2014) Jian Yang et al.   NATURE GENETICS

Large-scale genomics unveils the genetic architecture of psychiatric disorders

(2014) Jacob Gratten et al.   NATURE NEUROSCIENCE

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

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

(2013) Sarah J Tabrizi et al.   LANCET NEUROLOGY

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Power failure: why small sample size undermines the reliability of neuroscience

(2013) Katherine S. Button et al.   NATURE REVIEWS NEUROSCIENCE

The Impact of Phenotypic and Genetic Heterogeneity on Results of Genome Wide Association Studies of Complex Diseases

(2013) Mirko Manchia et al.   PLoS One

MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice

(2013) Stéphanie Tomé et al.   PLoS Genetics

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study

(2012) E. Ray Dorsey et al.   PLoS One

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues

(2012) Rebecka L. Bourn et al.   PLoS One

Mismatch repair-dependent mutagenesis in nondividing cells

(2012) G. P. Rodriguez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The False-positive to False-negative Ratio in Epidemiologic Studies

(2011) John P. A. Ioannidis et al.   EPIDEMIOLOGY

Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1

(2011) Leroy Hubert et al.   HUMAN MOLECULAR GENETICS

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

(2010) M. Orth et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair

(2010) Agata Smogorzewska et al.   MOLECULAR CELL

Analysing biological pathways in genome-wide association studies

(2010) Kai Wang et al.   NATURE REVIEWS GENETICS

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

(2010) E. Pegoraro et al.   NEUROLOGY

An evaluation of statistical approaches to rare variant analysis in genetic association studies

(2009) Andrew P. Morris et al.   GENETIC EPIDEMIOLOGY

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY

Practical aspects of imputation-driven meta-analysis of genome-wide association studies

(2008) P. I.W. de Bakker et al.   HUMAN MOLECULAR GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

(2008) Ella Dragileva et al.   NEUROBIOLOGY OF DISEASE

DNA instability in postmitotic neurons

(2008) R. Gonitel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA