PubRank

Peter Heutink

Author PubWeight™ 201.56‹?›

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 Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2002 9.90
3 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 2011 9.10
4 A promoter-level mammalian expression atlas. Nature 2014 6.25
5 Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010 5.52
6 Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A 2002 5.18
7 Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012 5.18
8 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet 2012 4.27
9 Somatic retrotransposition alters the genetic landscape of the human brain. Nature 2011 4.16
10 Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006 3.58
11 Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 2006 3.54
12 The PCR suite. Bioinformatics 2004 3.33
13 Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 2011 3.27
14 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011 2.97
15 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005 2.92
16 Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. Lancet 2002 2.78
17 Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects. Eur J Hum Genet 2008 2.75
18 Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease. Curr Biol 2005 2.35
19 The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 2012 2.33
20 CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 2003 2.29
21 Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003 2.23
22 Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 2003 2.20
23 Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet 2011 2.12
24 Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain 2013 2.09
25 Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability. Am J Hum Genet 2010 2.02
26 A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 2002 2.02
27 Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol 2008 1.86
28 Linkage disequilibrium in young genetically isolated Dutch population. Eur J Hum Genet 2004 1.80
29 Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002 1.69
30 Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet 2013 1.68
31 Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet 2012 1.68
32 DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor. J Biol Chem 2006 1.68
33 A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet 2007 1.55
34 The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes. Hum Mol Genet 2003 1.49
35 A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescence. Acta Neurol Belg 2006 1.45
36 Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011 1.45
37 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol 2006 1.40
38 Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord 2009 1.36
39 NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging 2014 1.32
40 Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Mov Disord 2006 1.29
41 DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia. Ann Neurol 2004 1.22
42 Association of the gene encoding neurogranin with schizophrenia in males. J Psychiatr Res 2006 1.16
43 The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. Hum Mol Genet 2007 1.16
44 Chasing genes in Alzheimer's and Parkinson's disease. Hum Genet 2004 1.11
45 Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood Cells Mol Dis 2003 1.10
46 Progranulin mutations in Dutch familial frontotemporal lobar degeneration. Eur J Hum Genet 2007 1.10
47 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
48 Intrapair differences in hippocampal volume in monozygotic twins discordant for the risk for anxiety and depression. Biol Psychiatry 2006 1.09
49 Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men. PLoS One 2008 1.07
50 Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 2011 1.01
51 Attention problems and attention-deficit/hyperactivity disorder in discordant and concordant monozygotic twins: evidence of environmental mediators. J Am Acad Child Adolesc Psychiatry 2007 1.01
52 Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. Neurobiol Aging 2009 1.01
53 Clinical features and neuroimaging of PARK7-linked parkinsonism. Mov Disord 2003 0.98
54 Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning. Eur J Hum Genet 2008 0.98
55 Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations. Eur J Hum Genet 2009 0.96
56 Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways. PLoS One 2009 0.96
57 Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers. Eur J Hum Genet 2012 0.94
58 Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord 2005 0.94
59 Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease. J Mol Med (Berl) 2004 0.94
60 An English kindred with a novel recessive tauopathy and respiratory failure. Ann Neurol 2003 0.94
61 The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo. J Neuropathol Exp Neurol 2007 0.94
62 A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands. Diabetes 2002 0.94
63 Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. Arch Neurol 2003 0.94
64 A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet 2012 0.93
65 Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. BMC Med Genet 2010 0.92
66 Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol 2015 0.92
67 A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Ann Neurol 2002 0.92
68 From single genes to gene networks: high-throughput-high-content screening for neurological disease. Neuron 2010 0.92
69 Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease. Mov Disord 2011 0.90
70 Regional differences in gene expression and promoter usage in aged human brains. Neurobiol Aging 2013 0.90
71 Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study. Am J Med Genet A 2010 0.90
72 Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. Ann Neurol 2002 0.90
73 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Am J Psychiatry 2014 0.90
74 Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population. PLoS One 2009 0.90
75 CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. Am J Med Genet B Neuropsychiatr Genet 2006 0.89
76 Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat 2012 0.89
77 Genetic comorbidities in Parkinson's disease. Hum Mol Genet 2013 0.89
78 Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children. Obesity (Silver Spring) 2010 0.88
79 A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder. PLoS One 2012 0.88
80 A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet 2007 0.88
81 Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study. BMC Med Genet 2007 0.87
82 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. Neurology 2013 0.87
83 The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD). Am J Med Genet B Neuropsychiatr Genet 2009 0.86
84 The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry 2013 0.86
85 Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report. BMC Neurol 2011 0.85
86 Population and genomic lessons from genetic analysis of two Indian populations. Hum Genet 2014 0.84
87 A double RING-H2 domain in RNF32, a gene expressed during sperm formation. Biochem Biophys Res Commun 2002 0.84
88 Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. PLoS One 2012 0.84
89 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 2014 0.83
90 Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R. Ann Neurol 2003 0.83
91 Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. PLoS One 2013 0.82
92 Translational research in genomics of Alzheimer's disease: a review of current practice and future perspectives. J Alzheimers Dis 2010 0.82
93 A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands. Diabetes 2003 0.82
94 Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17. Dement Geriatr Cogn Disord 2004 0.82
95 Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring. Am J Med Genet A 2003 0.82
96 The complete automation of cell culture: improvements for high-throughput and high-content screening. J Biomol Screen 2011 0.82
97 Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. Am J Med Genet 2002 0.81
98 Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. Cerebellum 2015 0.81
99 Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands. Hum Genet 2005 0.81
100 The role of the COMT Val(158)Met polymorphism in the phenotypic expression of obsessive-compulsive disorder. Am J Med Genet B Neuropsychiatr Genet 2010 0.81
101 Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. Eur J Hum Genet 2002 0.80
102 Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22. Neurobiol Dis 2003 0.79
103 A Functional polymorphism under positive evolutionary selection in ADRB2 is associated with human intelligence with opposite effects in the young and the elderly. Behav Genet 2008 0.79
104 Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis. Alzheimer Dis Assoc Disord 2012 0.79
105 Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study. Mov Disord 2003 0.79
106 The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes. Mol Genet Metab 2002 0.79
107 Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. Curr Alzheimer Res 2016 0.78
108 Benign hereditary chorea: clinical, neuroimaging, and genetic findings. J Child Neurol 2007 0.78
109 Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease. Mov Disord 2003 0.78
110 Genetics of dizygotic twinning: a feasibility study for a biobank. Twin Res 2004 0.78
111 FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain. PLoS One 2013 0.78
112 Resequencing three candidate genes for major depressive disorder in a Dutch cohort. PLoS One 2013 0.78
113 A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. Eur J Hum Genet 2003 0.78
114 Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. J Bone Miner Metab 2003 0.78
115 Empirical assessment of the validity of the 'fundamental theorem of the HapMap' in the light of 'cryptic' tagging of multiple susceptibility loci. Eur J Hum Genet 2008 0.77
116 Transthyretin: no association between serum levels or gene variants and schizophrenia. J Psychiatr Res 2006 0.76
117 Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS. Ann Neurol 2004 0.76
118 Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1. Biochim Biophys Acta 2002 0.76
119 Cervical dystonia and genetic common variation in the dopamine pathway. Parkinsonism Relat Disord 2012 0.76
120 High content screening in neurodegenerative diseases. J Vis Exp 2012 0.75
121 DGEclust: differential expression analysis of clustered count data. Genome Biol 2015 0.75
122 Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2007 0.75
123 Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder. Psychiatr Genet 2008 0.75
124 Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia. Neurodegener Dis 2016 0.75