List of works - J Raphael Gibbs

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

scientific article published on 3 August 2012

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

scientific article

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

scientific article published on 20 December 2017

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

scientific article published on 4 December 2017

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

scientific article

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

scientific article published on 10 June 2016

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

scientific article

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

scientific article

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

scientific article published on 31 May 2017

Establishing the role of rare coding variants in known Parkinson's disease risk loci

scientific article published on 2 August 2017

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

scientific article published on 13 November 2013

Another locus, a new method

scientific article

Identifying likely causal connections between gene expression levels using a Mendelian randomization approach

article

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

scientific article

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 26 November 2020

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

scientific article published on 14 February 2013

List of works by J Raphael Gibbs

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

Establishing the role of rare coding variants in known Parkinson's disease risk loci

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

Another locus, a new method

Identifying likely causal connections between gene expression levels using a Mendelian randomization approach

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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