4.5 Review

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

Related references

Note: Only part of the references are listed.
Review Oncology

Targeting DNA Repair in Cancer : Beyond PARP Inhibitors

Jessica S. Brown et al.

CANCER DISCOVERY (2017)

Review Clinical Neurology

DNA repair in the trinucleotide repeat disorders

Lesley Jones et al.

LANCET NEUROLOGY (2017)

Article Biochemistry & Molecular Biology

Phenotypic extremes in rare variant study designs

Gina M. Peloso et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Clinical Neurology

DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases

Conceicao Bettencourt et al.

ANNALS OF NEUROLOGY (2016)

Article Genetics & Heredity

Disease-associated repeat instability and mismatch repair

Monika H. M. Schmidt et al.

DNA REPAIR (2016)

Article Multidisciplinary Sciences

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

Monkol Lek et al.

NATURE (2016)

Article Genetics & Heredity

A reference panel of 64,976 haplotypes for genotype imputation

Shane McCarthy et al.

NATURE GENETICS (2016)

Review Cell Biology

The Fanconi anaemia pathway: newyplayers and new functions

Raphael Ceccaldi et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2016)

Article Clinical Neurology

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

Lesley Jones et al.

ALZHEIMERS & DEMENTIA (2015)

Article Biochemistry & Molecular Biology

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

Jong-Min Lee et al.

Article Genetics & Heredity

The support of human genetic evidence for approved drug indications

Matthew R. Nelson et al.

NATURE GENETICS (2015)

Article Genetics & Heredity

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

Brendan K. Bulik-Sullivan et al.

NATURE GENETICS (2015)

Article Multidisciplinary Sciences

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

Harriet Corvol et al.

NATURE COMMUNICATIONS (2015)

Article Biochemical Research Methods

MAGMA: Generalized Gene-Set Analysis of GWAS Data

Christiaan A. de Leeuw et al.

PLOS COMPUTATIONAL BIOLOGY (2015)

Article Oncology

Therapeutic opportunities within the DNA damage response

Laurence H. Pearl et al.

NATURE REVIEWS CANCER (2015)

Article Genetics & Heredity

Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

ChangJiang Xu et al.

GENETIC EPIDEMIOLOGY (2014)

Review Clinical Neurology

Genetic Modifiers of Huntington's Disease

James F. Gusella et al.

MOVEMENT DISORDERS (2014)

Article Genetics & Heredity

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

Jian Yang et al.

NATURE GENETICS (2014)

Review Neurosciences

Large-scale genomics unveils the genetic architecture of psychiatric disorders

Jacob Gratten et al.

NATURE NEUROSCIENCE (2014)

Article Genetics & Heredity

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

Jean-Charles Lambert et al.

NATURE GENETICS (2013)

Review Genetics & Heredity

Sequencing studies in human genetics: design and interpretation

David B. Goldstein et al.

NATURE REVIEWS GENETICS (2013)

Review Neurosciences

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

Katherine S. Button et al.

NATURE REVIEWS NEUROSCIENCE (2013)

Review Genetics & Heredity

Five Years of GWAS Discovery

Peter M. Visscher et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Mathematical & Computational Biology

Optimal tests for rare variant effects in sequencing association studies

Seunggeun Lee et al.

BIOSTATISTICS (2012)

Article Multidisciplinary Sciences

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

Rebecka L. Bourn et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

Mismatch repair-dependent mutagenesis in nondividing cells

Gina P. Rodriguez et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Genetics & Heredity

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

Michael C. Wu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Public, Environmental & Occupational Health

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

John P. A. Ioannidis et al.

EPIDEMIOLOGY (2011)

Article Biochemistry & Molecular Biology

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

Leroy Hubert et al.

HUMAN MOLECULAR GENETICS (2011)

Letter Clinical Neurology

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

Michael Orth et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2011)

Article Genetics & Heredity

An Evaluation of Statistical Approaches to Rare Variant Analysis in Genetic Association Studies

Andrew P. Morris et al.

GENETIC EPIDEMIOLOGY (2010)

Review Genetics & Heredity

Analysing biological pathways in genome-wide association studies

Kai Wang et al.

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Mechanisms of trinucleotide repeat instability during human development

Cynthia T. McMurray

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Genotype imputation for genome-wide association studies

Jonathan Marchini et al.

NATURE REVIEWS GENETICS (2010)

Article Biochemistry & Molecular Biology

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

Meera Swami et al.

HUMAN MOLECULAR GENETICS (2009)

Article Biochemical Research Methods

WGCNA: an R package for weighted correlation network analysis

Peter Langfelder et al.

BMC BIOINFORMATICS (2008)

Article Biochemistry & Molecular Biology

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

Paul I. W. de Bakker et al.

HUMAN MOLECULAR GENETICS (2008)

Review Genetics & Heredity

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

Mark I. McCarthy et al.

NATURE REVIEWS GENETICS (2008)

Article Multidisciplinary Sciences

DNA instability in postmitotic neurons

Roman Gonitel et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Genetics & Heredity

Family-based association tests for genomewide association scans

Wei-Min Chen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Review Multidisciplinary Sciences

Expandable DNA repeats and human disease

Sergei M. Mirkin

NATURE (2007)

Article Multidisciplinary Sciences

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

Irina V. Kovtun et al.

NATURE (2007)

Article Biochemistry & Molecular Biology

Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2

Elda Cannavo et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Genetics & Heredity

Principal components analysis corrects for stratification in genome-wide association studies

Alkes L. Price et al.

NATURE GENETICS (2006)

Article Clinical Neurology

Preparing for preventive clinical trials - The predict-HD study

JS Paulsen et al.

ARCHIVES OF NEUROLOGY (2006)

Article Biochemistry & Molecular Biology

(CAG)n-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition

BAL Owen et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2005)

Article Genetics & Heredity

Assessing the impact of population stratification on genetic association studies

ML Freedman et al.

NATURE GENETICS (2004)

Article Genetics & Heredity

A genome scan for modifiers of age at onset in Huntington disease:: The HD MAPS study

JL Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

Mismatch repair gene Msh2 modifies the timing of early disease in HdhQ111 striatum

VC Wheeler et al.

HUMAN MOLECULAR GENETICS (2003)