List of works - J Raphael Gibbs

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

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

scientific article

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

scientific article

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

scientific article published on 20 November 2006

Common genetic variants influence human subcortical brain structures

scientific article

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

scientific article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

scientific article

Distinct DNA methylation changes highly correlated with chronological age in the human brain

scientific article

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

SNCA variants are associated with increased risk for multiple system atrophy

scientific article

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

scientific article

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

scientific article

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

scientific article

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

scientific article

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

scientific article

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

scientific article

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

scientific article

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

scientific article

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

scientific article published on 17 January 2013

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

scientific article

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

scientific article published on 05 June 2017

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

scientific article published on 21 February 2013

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

scientific article published on October 2013

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

scientific article published on 30 January 2013

Genetic variability in CLU and its association with Alzheimer's disease

scientific article

Exome sequencing in Brown-Vialetto-van Laere syndrome

scientific article

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation

scientific article

Genetic comorbidities in Parkinson's disease

scientific article published on 20 September 2013

Age-associated changes in gene expression in human brain and isolated neurons

scientific article

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

scientific article published on 13 June 2016

Structural genomic variation in ischemic stroke

scientific article

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

scientific article

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

scientific article

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

CHCHD2 and Parkinson's disease.

scientific article published in July 2015

List of works by J Raphael Gibbs

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

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

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

Common genetic variants influence human subcortical brain structures

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

Analysis of shared heritability in common disorders of the brain

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Distinct DNA methylation changes highly correlated with chronological age in the human brain

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

SNCA variants are associated with increased risk for multiple system atrophy

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Novel genetic loci associated with hippocampal volume

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

Missense variant in TREML2 protects against Alzheimer's disease

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

Genetic variability in CLU and its association with Alzheimer's disease

Exome sequencing in Brown-Vialetto-van Laere syndrome

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation

Genetic comorbidities in Parkinson's disease

Age-associated changes in gene expression in human brain and isolated neurons

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

Structural genomic variation in ischemic stroke

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

CHCHD2 and Parkinson's disease.