Jan H Veldink

Author PubWeight™ 112.65‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 2010 6.90
2 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009 4.38
3 Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet 2011 3.65
4 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010 3.61
5 ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol 2007 2.80
6 EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 2012 2.65
7 Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2007 2.63
8 Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol 2008 2.54
9 Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol 2013 2.52
10 Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry 2011 2.08
11 Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2009 2.03
12 Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients. BMC Genomics 2009 1.72
13 Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects. BMC Genomics 2012 1.70
14 Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012 1.62
15 Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 2012 1.62
16 European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Hum Mol Genet 2011 1.58
17 Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet 2013 1.57
18 Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 2008 1.46
19 Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011 1.45
20 Physician-assisted death: dying with dignity? Lancet Neurol 2003 1.44
21 A randomized sequential trial of creatine in amyotrophic lateral sclerosis. Ann Neurol 2003 1.39
22 Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study. PLoS One 2010 1.30
23 Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One 2009 1.23
24 Impaired structural motor connectome in amyotrophic lateral sclerosis. PLoS One 2011 1.18
25 Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2011 1.18
26 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 2012 1.16
27 Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes. Eur J Hum Genet 2012 1.14
28 What we truly know about occupation as a risk factor for ALS: a critical and systematic review. Amyotroph Lateral Scler 2009 1.13
29 Analysis of genome-wide copy number variation in Irish and Dutch ALS populations. Hum Mol Genet 2008 1.12
30 Trends and determinants of end-of-life practices in ALS in the Netherlands. Neurology 2009 1.11
31 Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study. Am J Epidemiol 2012 1.10
32 FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Arch Neurol 2010 1.08
33 Exposure to chemicals and metals and risk of amyotrophic lateral sclerosis: a systematic review. Amyotroph Lateral Scler 2009 1.08
34 Prior medical conditions and the risk of amyotrophic lateral sclerosis. J Neurol 2014 1.05
35 ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Hum Mol Genet 2013 1.04
36 The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population. Arch Neurol 2007 1.02
37 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 2012 1.02
38 The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials. Amyotroph Lateral Scler 2010 0.99
39 Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS. J Acquir Immune Defic Syndr 2011 0.98
40 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.98
41 VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2011 0.98
42 NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet 2012 0.97
43 Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One 2012 0.95
44 UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 2011 0.95
45 A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet 2010 0.92
46 Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner. BMC Genomics 2012 0.91
47 VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. Neurobiol Aging 2012 0.91
48 Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 2011 0.90
49 Correlation between structural and functional connectivity impairment in amyotrophic lateral sclerosis. Hum Brain Mapp 2014 0.90
50 Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis. Ann Neurol 2009 0.90
51 Multicohort genomewide association study reveals a new signal of protection against HIV-1 acquisition. J Infect Dis 2012 0.89
52 Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis. Hum Brain Mapp 2013 0.89
53 UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands. Neurobiol Aging 2012 0.88
54 Increased paternal age and the influence on burden of genomic copy number variation in the general population. Hum Genet 2013 0.88
55 Euthanasia and physician-assisted suicide in amyotrophic lateral sclerosis: a prospective study. J Neurol 2014 0.88
56 Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq. PLoS One 2013 0.87
57 H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2012 0.87
58 Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial. J Neurol Neurosurg Psychiatry 2012 0.86
59 DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts. PLoS Genet 2013 0.86
60 Copy number variants on the X chromosome in women with primary ovarian insufficiency. Fertil Steril 2011 0.84
61 Genetic overlap between apparently sporadic motor neuron diseases. PLoS One 2012 0.84
62 Amyotrophic lateral sclerosis is not linked to multiple sclerosis in a population based study. J Neurol Neurosurg Psychiatry 2013 0.83
63 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 2014 0.83
64 Markov Models for inferring copy number variations from genotype data on Illumina platforms. Hum Hered 2009 0.83
65 Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3. Neurobiol Aging 2012 0.82
66 Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009 0.81
67 CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2012 0.81
68 Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes. Arch Neurol 2009 0.81
69 Associated autoimmune diseases in patients with multifocal motor neuropathy and their family members. J Neurol 2011 0.81
70 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.80
71 Meta-analysis of gene expression profiling in amyotrophic lateral sclerosis: a comparison between transgenic mouse models and human patients. Amyotroph Lateral Scler Frontotemporal Degener 2013 0.80
72 Requests for euthanasia: origin of suffering in ALS, heart failure, and cancer patients. J Neurol 2010 0.80
73 CGP 3466B has no effect on disease course of (G93A) mSOD1 transgenic mice. Amyotroph Lateral Scler Other Motor Neuron Disord 2004 0.79
74 Cluster RCT of case management on patients' quality of life and caregiver strain in ALS. Neurology 2013 0.78
75 Multimodal tract-based analysis in ALS patients at 7T: a specific white matter profile? Amyotroph Lateral Scler Frontotemporal Degener 2013 0.78
76 ALS genetic epidemiology 'How simplex is the genetic epidemiology of ALS?' J Neurol Neurosurg Psychiatry 2017 0.77
77 TDP-43 plasma levels are higher in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2012 0.77
78 Validity of the Dutch version of the Amyotrophic Lateral Sclerosis Assessment Questionnaire, ALSAQ-40, ALSAQ-5. Amyotroph Lateral Scler 2007 0.77
79 Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle. Amyotroph Lateral Scler Frontotemporal Degener 2013 0.77
80 Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study. J Neurol 2015 0.76
81 P413L CHGB is not associated with ALS susceptibility or age at onset in a Dutch population. Proc Natl Acad Sci U S A 2010 0.76
82 Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients. Neurobiol Aging 2012 0.76
83 Would riluzole be efficacious in the new ALS trial design? Lancet Neurol 2010 0.75
84 Positive muscle phenomena--diagnosis, pathogenesis and associated disorders. Nat Rev Neurol 2012 0.75
85 [Amyotrophic lateral sclerosis, a heterogeneous disorder]. Ned Tijdschr Geneeskd 2015 0.75
86 Negative selection in humans and fruit flies involves synergistic epistasis. Science 2017 0.75
87 Parental age and the risk of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2012 0.75
88 Mutational analysis of TARDBP in Parkinson's disease. Neurobiol Aging 2012 0.75
89 Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis. Neuromuscul Disord 2007 0.75
90 Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Sci Transl Med 2022 0.75