PubRank

J Raphael Gibbs

Author PubWeight™ 140.67‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011 18.73
2 Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008 12.40
3 A survey of genetic human cortical gene expression. Nat Genet 2007 12.04
4 Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009 10.34
5 Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010 7.87
6 Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2006 7.32
7 Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 2006 5.50
8 A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet 2008 4.75
9 Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010 4.19
10 Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007 3.93
11 SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 2009 3.55
12 Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet 2009 3.35
13 DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008 3.03
14 A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol 2007 2.99
15 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011 2.97
16 RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways. Proc Natl Acad Sci U S A 2008 2.76
17 Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet 2011 2.62
18 A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009 1.93
19 Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet 2011 1.83
20 Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet 2012 1.68
21 MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet 2012 1.58
22 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012 1.50
23 Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat 2008 1.49
24 Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genet 2009 1.46
25 Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet 2010 1.42
26 Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis 2012 1.35
27 Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology 2012 1.33
28 NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging 2014 1.32
29 Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat 2008 1.31
30 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. Nat Neurosci 2013 1.29
31 Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Res 2013 1.25
32 Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 2013 1.22
33 Exome sequencing in Brown-Vialetto-van Laere syndrome. Am J Hum Genet 2010 1.22
34 Genetic variability in CLU and its association with Alzheimer's disease. PLoS One 2010 1.16
35 Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology 2012 1.14
36 Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurol 2013 1.09
37 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. PLoS One 2013 1.05
38 Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet 2013 1.02
39 Another locus, a new method. Brain 2010 0.99
40 Structural genomic variation in ischemic stroke. Neurogenetics 2008 0.93
41 A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet 2012 0.93
42 Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat 2012 0.89
43 Genetic comorbidities in Parkinson's disease. Hum Mol Genet 2013 0.89
44 Age-associated changes in gene expression in human brain and isolated neurons. Neurobiol Aging 2012 0.87
45 A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2014 0.75
46 SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis 2017 0.75