PubRank

Peter P Pramstaller

Author PubWeight™ 292.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010 28.21
2 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010 23.08
3 Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010 20.01
4 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010 16.96
5 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011 13.25
6 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 2008 12.32
7 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet 2010 7.94
8 New loci associated with kidney function and chronic kidney disease. Nat Genet 2010 5.58
9 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet 2012 4.73
10 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet 2012 4.37
11 Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 2009 4.10
12 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation 2011 3.68
13 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet 2010 3.55
14 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet 2013 3.25
15 Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet 2012 3.21
16 NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet 2009 3.18
17 New gene functions in megakaryopoiesis and platelet formation. Nature 2011 3.14
18 A marker for the end of adolescence. Curr Biol 2004 3.12
19 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2012 3.04
20 Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet 2013 2.92
21 Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet 2013 2.83
22 Seventy-five genetic loci influencing the human red blood cell. Nature 2012 2.77
23 FTO genotype is associated with phenotypic variability of body mass index. Nature 2012 2.77
24 CUBN is a gene locus for albuminuria. J Am Soc Nephrol 2011 2.70
25 Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet 2012 2.34
26 A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function. Cell 2010 2.27
27 Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 2012 2.18
28 The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med 2008 2.10
29 Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006 1.94
30 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS Genet 2012 1.79
31 Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet 2009 1.77
32 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet 2013 1.72
33 A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 2012 1.72
34 Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet 2012 1.68
35 Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet 2010 1.67
36 The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies. BMC Endocr Disord 2014 1.64
37 The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC Med Genet 2007 1.64
38 Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. PLoS One 2011 1.62
39 Genes predict village of origin in rural Europe. Eur J Hum Genet 2010 1.61
40 Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord 2005 1.54
41 Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004 1.54
42 Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney Int 2009 1.48
43 The arachidonic acid metabolome serves as a conserved regulator of cholesterol metabolism. Cell Metab 2014 1.47
44 Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC). Am J Med Genet B Neuropsychiatr Genet 2008 1.42
45 Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord 2008 1.41
46 A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. Circ Cardiovasc Genet 2009 1.35
47 Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping. PLoS One 2012 1.34
48 Discovery and fine mapping of serum protein loci through transethnic meta-analysis. Am J Hum Genet 2012 1.29
49 Methods for meta-analyses of genome-wide association studies: critical assessment of empirical evidence. Am J Epidemiol 2012 1.24
50 Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002 1.24
51 PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet 2002 1.19
52 Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Hum Mol Genet 2010 1.18
53 Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study. PLoS Med 2013 1.18
54 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005 1.17
55 Evidence of inbreeding depression on human height. PLoS Genet 2012 1.16
56 Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS One 2010 1.14
57 Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet 2012 1.14
58 Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Am J Hum Genet 2012 1.13
59 ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord 2009 1.12
60 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet 2013 1.12
61 Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels. PLoS Genet 2010 1.10
62 Involvement of proprotein convertase PCSK7 in the regulation of systemic iron homeostasis. Hepatology 2013 1.09
63 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. Am J Hum Genet 2012 1.05
64 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum Mol Genet 2010 1.03
65 Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes. Eur J Hum Genet 2009 1.03
66 Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet 2006 1.03
67 GWAtoolbox: an R package for fast quality control and handling of genome-wide association studies meta-analysis data. Bioinformatics 2011 1.03
68 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. J Mol Neurosci 2009 1.03
69 Effects of gender and aging on differential autonomic responses to orthostatic maneuvers. J Cardiovasc Electrophysiol 2008 1.02
70 Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. Hum Mol Genet 2014 1.02
71 Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproduction. J Gerontol A Biol Sci Med Sci 2010 1.01
72 Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord 2005 1.00
73 Genome-wide analysis of epistasis in body mass index using multiple human populations. Eur J Hum Genet 2012 1.00
74 A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. BMC Med Genet 2010 1.00
75 Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease. J Mol Neurosci 2010 0.99
76 New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East. Eur J Hum Genet 2007 0.99
77 Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002 0.98
78 PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees. Bioinformatics 2007 0.98
79 A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. PLoS Genet 2011 0.97
80 Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate. Mov Disord 2006 0.94
81 The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002 0.94
82 The R98Q variation in DJ-1 represents a rare polymorphism. Ann Neurol 2004 0.92
83 Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet 2008 0.91
84 A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 2012 0.90
85 Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? Mov Disord 2006 0.90
86 Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease. Mov Disord 2009 0.90
87 Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord 2007 0.90
88 Copy number variation across European populations. PLoS One 2011 0.89
89 Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates. PLoS One 2011 0.89
90 Genetic architecture of circulating lipid levels. Eur J Hum Genet 2011 0.88
91 Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004 0.88
92 Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. Hum Mol Genet 2011 0.88
93 Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics 2008 0.88
94 Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study. J Psychiatr Res 2012 0.87
95 Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. Hum Biol 2006 0.87
96 Nonmotor symptoms in Parkin gene-related parkinsonism. Mov Disord 2010 0.87
97 Importance of different types of prior knowledge in selecting genome-wide findings for follow-up. Genet Epidemiol 2013 0.87
98 SNP prioritization using a Bayesian probability of association. Genet Epidemiol 2012 0.86
99 Genetics of restless legs syndrome (RLS): State-of-the-art and future directions. Mov Disord 2007 0.85
100 Association between restless legs syndrome and migraine: a population-based study. Eur J Neurol 2014 0.85
101 Estimating the glomerular filtration rate in the general population using different equations: effects on classification and association. Nephron Clin Pract 2013 0.84
102 Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. Mov Disord 2006 0.84
103 Profiling of Parkin-binding partners using tandem affinity purification. PLoS One 2013 0.84
104 Frequency of parkin mutations in late-onset Parkinson's disease. Ann Neurol 2003 0.84
105 Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 2009 0.83
106 Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Mov Disord 2007 0.83
107 Structural imaging in the presymptomatic stage of genetically determined parkinsonism. Neurobiol Dis 2010 0.83
108 Common variants in Mendelian kidney disease genes and their association with renal function. J Am Soc Nephrol 2013 0.82
109 Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord 2006 0.82
110 Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. Mov Disord 2010 0.81
111 Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG). Mov Disord 2007 0.81
112 NR4A2 mutations are rare among European patients with familial Parkinson's disease. Ann Neurol 2003 0.79
113 Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q. Am J Hum Genet 2002 0.79
114 Exome sequencing in a family with restless legs syndrome. Mov Disord 2012 0.78
115 Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27. J Med Genet 2011 0.78
116 Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease. Parkinsonism Relat Disord 2010 0.78
117 Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers. Neuropsychologia 2009 0.78
118 Copy number variation and association over T-cell receptor genes--influence of DNA source. Immunogenetics 2010 0.78
119 Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. Am J Med Genet B Neuropsychiatr Genet 2015 0.77
120 Identification of a set of endogenous reference genes for miRNA expression studies in Parkinson's disease blood samples. BMC Res Notes 2014 0.77
121 Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. Mov Disord 2004 0.77
122 SNP-based linkage analysis in extended pedigrees: comparison between two alternative approaches. Hum Hered 2014 0.76
123 Intracortical inhibition is reduced in a patient with a lesion in the posterolateral thalamus. Mov Disord 2002 0.76
124 Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006. Hum Biol 2009 0.76
125 Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism. Ann Neurol 2002 0.76
126 Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS). Am J Med Genet B Neuropsychiatr Genet 2010 0.76
127 Update on the management of restless legs syndrome: existing and emerging treatment options. Nat Sci Sleep 2010 0.75
128 Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts. PLoS One 2012 0.75
129 Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet 2016 0.75
130 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. J Clin Invest 2017 0.75
131 The pathology of the spinal cord in progressive supranuclear palsy. J Neuropathol Exp Neurol 2002 0.75
132 Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep 2017 0.75
133 Progressive supranuclear palsy: new disease or variant of postencephalitic parkinsonism? Mov Disord 2004 0.75
134 Variants in STAT5B associate with serum TC and LDL-C levels. J Clin Endocrinol Metab 2011 0.75
135 Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat Commun 2015 0.75
136 Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. J Mol Neurosci 2012 0.75