PubRank

Andrew Singleton

Author PubWeight™ 279.60‹?›

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 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010 17.89
3 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011 13.25
4 TREM2 variants in Alzheimer's disease. N Engl J Med 2012 11.35
5 Genomewide association studies and human disease. N Engl J Med 2009 9.05
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 Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet 2010 6.66
8 Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis 2006 5.96
9 A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005 5.81
10 New loci associated with kidney function and chronic kidney disease. Nat Genet 2010 5.58
11 Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 2006 5.50
12 The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet 2012 4.87
13 A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet 2008 4.75
14 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet 2008 4.69
15 Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009 4.01
16 Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007 3.93
17 Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol 2013 3.70
18 Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 2005 3.63
19 Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009 3.62
20 Genetics of Parkinson's disease and parkinsonism. Ann Neurol 2006 3.60
21 Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009 3.42
22 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011 3.40
23 Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet 2009 3.38
24 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
25 A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol 2007 2.99
26 Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet 2009 2.58
27 Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003 2.23
28 Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke 2008 2.19
29 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012 2.12
30 Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet 2006 2.02
31 Genomic variation in seven Khoe-San groups reveals adaptation and complex African history. Science 2012 1.99
32 A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009 1.93
33 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet 2009 1.87
34 Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet 2008 1.84
35 Association of cerebrospinal fluid β-amyloid 1-42, T-tau, P-tau181, and α-synuclein levels with clinical features of drug-naive patients with early Parkinson disease. JAMA Neurol 2013 1.83
36 Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Am J Hum Genet 2009 1.81
37 Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging 2008 1.76
38 Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord 2006 1.72
39 A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 2012 1.72
40 A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 2009 1.71
41 Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J 2008 1.68
42 Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging 2007 1.67
43 Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 2006 1.60
44 A genome-wide association analysis of serum iron concentrations. Blood 2009 1.55
45 Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat 2008 1.49
46 Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci. Stroke 2011 1.45
47 Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet 2010 1.42
48 The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett 2004 1.38
49 The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases. Neurosci Lett 2005 1.37
50 Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing. Aging Cell 2011 1.37
51 Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. Ann Neurol 2005 1.36
52 Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake. Am J Clin Nutr 2013 1.35
53 Parkinson's disease and α-synuclein expression. Mov Disord 2011 1.34
54 G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord 2005 1.34
55 Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. Am J Hum Genet 2006 1.32
56 Research priorities in spasmodic dysphonia. Otolaryngol Head Neck Surg 2008 1.31
57 Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Ann Med 2008 1.30
58 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. PLoS Genet 2009 1.30
59 TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One 2008 1.27
60 Genetic variability in CLU and its association with Alzheimer's disease. PLoS One 2010 1.16
61 Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 2005 1.15
62 A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab 2008 1.15
63 Genes and parkinsonism. Lancet Neurol 2003 1.14
64 Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord 2002 1.12
65 How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease. Curr Opin Neurol 2005 1.10
66 Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci 2010 1.10
67 Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging 2011 1.09
68 Copying referral letters to patients: the views of patients, patient representatives and doctors. Patient Educ Couns 2004 1.08
69 Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. Brain 2004 1.05
70 A network-based approach to prioritize results from genome-wide association studies. PLoS One 2011 1.03
71 Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. Int J Epidemiol 2013 1.03
72 Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet 2013 1.02
73 Genome-wide association studies in neurological disorders. Lancet Neurol 2008 1.01
74 Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLoS One 2008 1.01
75 Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurol 2006 1.00
76 Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset. Mov Disord 2006 0.99
77 Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. Mov Disord 2009 0.99
78 A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol Dis 2002 0.99
79 Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Mov Disord 2004 0.99
80 A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat 2010 0.98
81 SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol 2011 0.97
82 Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. Mov Disord 2006 0.96
83 Candidate gene polymorphisms for ischemic stroke. Stroke 2009 0.96
84 Meeting report: consensus statement-Parkinson's disease and the environment: collaborative on health and the environment and Parkinson's Action Network (CHE PAN) conference 26-28 June 2007. Environ Health Perspect 2008 0.94
85 Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years. Mov Disord 2005 0.94
86 Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred). Mov Disord 2011 0.93
87 Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations. Alcohol Clin Exp Res 2007 0.93
88 Ethnic differences and disease phenotypes. Science 2003 0.92
89 Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2005 0.91
90 Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol 2008 0.91
91 Kinase signaling pathways as potential targets in the treatment of Parkinson's disease. Expert Rev Proteomics 2007 0.91
92 Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations. Mech Ageing Dev 2012 0.91
93 A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol 2005 0.89
94 Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta 2008 0.89
95 Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Eur Heart J 2009 0.88
96 Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. Ann Neurol 2008 0.88
97 The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord 2009 0.88
98 Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease. J Neurochem 2005 0.87
99 Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. PLoS One 2011 0.87
100 Learning not to take it seriously: junior doctors' accounts of error. Med Educ 2008 0.86
101 Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2005 0.86
102 Primary hyperhidrosis--evidence for autosomal dominant inheritance. Clin Auton Res 2003 0.86
103 Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord 2008 0.85
104 Smoking-responsive juvenile-onset Parkinsonism. Mov Disord 2007 0.84
105 X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? Mov Disord 2002 0.84
106 NOTCH3 variants and risk of ischemic stroke. PLoS One 2013 0.84
107 Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat 2012 0.84
108 Linkage and association analyses of type 2 diabetes/impaired glucose metabolism and adiponectin serum levels in Japanese Americans from Hawaii. Diabetes 2007 0.83
109 Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. PLoS One 2007 0.83
110 Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. PLoS One 2013 0.82
111 APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis. J Alzheimers Dis 2011 0.82
112 Assessing the impact of recording quality target data on the GP consultation using multi-channel video. Stud Health Technol Inform 2007 0.82
113 A case of dementia with PRNP D178Ncis-129M and no insomnia. Alzheimer Dis Assoc Disord 2009 0.81
114 Mutation at the SCA17 locus is not a common cause of parkinsonism. Parkinsonism Relat Disord 2003 0.81
115 No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. Neurosci Lett 2004 0.80
116 Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Mov Disord 2002 0.80
117 Reporting and interpretation of genetic variants in cases and controls. Neurology 2007 0.80
118 Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging 2012 0.80
119 Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. Rejuvenation Res 2012 0.80
120 A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. Mov Disord 2004 0.80
121 Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord 2004 0.79
122 DYT16: the original cases. J Neurol Neurosurg Psychiatry 2012 0.78
123 The HapMap: charting a course for genetic discovery in neurological diseases. Arch Neurol 2008 0.78
124 Prion genotypes in Central America suggest selection for the V129 allele. Am J Med Genet B Neuropsychiatr Genet 2006 0.78
125 Lessons from the implementation of a near patient anticoagulant monitoring service in primary care. Inform Prim Care 2004 0.78
126 Taiwanese cases of SCA2 are derived from a single founder. Mov Disord 2005 0.78
127 Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population. Neurosci Lett 2004 0.78
128 Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features. J Neurol 2004 0.77
129 Whole genome association studies: deciding when persistence becomes perseveration. Am J Med Genet B Neuropsychiatr Genet 2008 0.77
130 Why general practitioners do not implement evidence. Learning environments must be created that capitalise on teams' wealth of knowledge. BMJ 2002 0.76
131 Genome-wide association studies and ALS: are we there yet? Lancet Neurol 2007 0.75
132 Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res 2015 0.75
133 Association, expression, pathobiology: is too much tau in PD a blueprint for genetic association? Neurology 2008 0.75
134 What does PINK1 mean for Parkinson diseases? Neurology 2004 0.75
135 No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease. Mov Disord 2013 0.75
136 Establishing the genetic heterogeneity of familial hemiplegic migraine. Brain 2007 0.75
137 Age-modulated association between prefrontal NAA and the BDNF gene. Int J Neuropsychopharmacol 2012 0.75
138 Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. Parkinsonism Relat Disord 2004 0.75
139 A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Mol Syst Biol 2009 0.75
140 Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. Mov Disord 2008 0.75
141 The Effect of Perioperative Rescue Transesophageal Echocardiography on the Management of Trauma Patients. A A Case Rep 2016 0.75
142 Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period. Mov Disord 2005 0.75