PubRank

Jeffery M Vance

Author PubWeight™ 149.87‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress. Cell 2003 7.71
2 Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004 7.45
3 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 2005 7.03
4 No gene is an island: the flip-flop phenomenon. Am J Hum Genet 2007 4.69
5 Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 2010 4.26
6 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003 3.55
7 PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. Sci Transl Med 2010 3.48
8 Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 2003 3.39
9 Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet 2008 3.27
10 Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci U S A 2007 3.03
11 Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet 2002 2.90
12 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005 2.79
13 MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006 2.77
14 Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet 2002 2.70
15 Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 2004 2.36
16 Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee. PLoS Genet 2011 2.28
17 Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol 2012 2.20
18 SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics 2005 2.14
19 Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 2003 2.14
20 Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol 2003 2.01
21 Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 2006 2.00
22 Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Hum Mol Genet 2003 1.98
23 Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006 1.98
24 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet 2011 1.85
25 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet 2010 1.80
26 Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology 2013 1.78
27 Pesticide exposure and risk of Parkinson's disease: a family-based case-control study. BMC Neurol 2008 1.76
28 A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. Am J Hum Genet 2004 1.71
29 Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. Am J Hum Genet 2004 1.70
30 Vitamin D from different sources is inversely associated with Parkinson disease. Mov Disord 2014 1.67
31 Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2001 1.59
32 Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. PLoS One 2011 1.55
33 Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. Am J Hum Genet 2007 1.55
34 Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism. Arch Neurol 2005 1.49
35 Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease. Neurogenetics 2008 1.36
36 Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. Am J Hum Genet 2003 1.35
37 Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest 2012 1.32
38 GATA2 is associated with familial early-onset coronary artery disease. PLoS Genet 2006 1.32
39 Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. J Am Soc Nephrol 2002 1.31
40 Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. Am J Hum Genet 2005 1.31
41 Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson disease. Arch Neurol 2007 1.29
42 Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. Blood 2008 1.28
43 A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Mol Autism 2011 1.27
44 Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2006 1.25
45 Vitamin D receptor gene as a candidate gene for Parkinson disease. Ann Hum Genet 2011 1.22
46 Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets. Hum Mol Genet 2008 1.21
47 Convergence of miRNA expression profiling, α-synuclein interacton and GWAS in Parkinson's disease. PLoS One 2011 1.19
48 Notch activation induces endothelial cell senescence and pro-inflammatory response: implication of Notch signaling in atherosclerosis. Atherosclerosis 2012 1.16
49 The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers. Cell Metab 2010 1.16
50 Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neuromolecular Med 2006 1.16
51 A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat 2012 1.15
52 A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat 2011 1.14
53 Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser. BMC Bioinformatics 2005 1.13
54 Genetic polymorphisms associated with priapism in sickle cell disease. Br J Haematol 2007 1.13
55 Emerging pathways for hereditary axonopathies. J Mol Med (Berl) 2005 1.12
56 Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra. Mov Disord 2005 1.11
57 Genomic medicine and neurology. Continuum (Minneap Minn) 2011 1.09
58 Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. Hum Genet 2005 1.09
59 A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. Hum Mutat 2010 1.04
60 Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis. Hum Genet 2009 1.04
61 Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach. PLoS One 2011 1.02
62 A genome-wide linkage analysis of dementia in the Amish. Am J Med Genet B Neuropsychiatr Genet 2006 1.00
63 Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol 2009 0.97
64 C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet 2013 0.96
65 Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis. Am J Hum Genet 2002 0.96
66 Association study of Parkin gene polymorphisms with idiopathic Parkinson disease. Arch Neurol 2003 0.95
67 Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. J Neurol 2011 0.95
68 Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation. PLoS Genet 2012 0.94
69 NOS2A and the modulating effect of cigarette smoking in Parkinson's disease. Ann Neurol 2006 0.94
70 Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype. Neurogenetics 2004 0.93
71 Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases. Neurobiol Aging 2005 0.92
72 Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease. Mov Disord 2006 0.90
73 Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells. Neurosci Lett 2012 0.89
74 Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease. Neurogenetics 2004 0.88
75 Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care. Genet Med 2010 0.88
76 Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish. BMC Med Genet 2006 0.88
77 Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2007 0.86
78 The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease. Neurosci Lett 2003 0.83
79 Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease. CNS Neurol Disord Drug Targets 2012 0.81
80 Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease. Mov Disord 2014 0.80
81 Inflammation, stem cells and atherosclerosis genetics. Curr Opin Mol Ther 2010 0.79
82 Detecting genetic interactions in pathway-based genome-wide association studies. Genet Epidemiol 2014 0.79
83 Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. Am J Ophthalmol 2005 0.79
84 Genomic signatures of a global fitness index in a multi-ethnic cohort of women. Ann Hum Genet 2013 0.78
85 Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish. Adv Exp Med Biol 2014 0.78
86 Whole exome sequencing. Rinsho Shinkeigaku 2010 0.77
87 Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. Neurogenetics 2002 0.77
88 Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. Adv Exp Med Biol 2014 0.77
89 Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. Am J Hum Genet 2009 0.76
90 High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2. Hum Mutat 2013 0.76
91 Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12. Ann Neurol 2002 0.75
92 Alzheimer's disease genes and genetic testing in clinical practice. JAAPA 2004 0.75