PubRank

Dena G Hernandez

Author PubWeight™ 137.32‹?›

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 Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008 12.40
3 Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009 10.34
4 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
5 Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet 2010 8.74
6 Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010 7.87
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 GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science 2013 4.71
9 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet 2009 4.28
10 Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010 4.19
11 Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007 3.93
12 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010 3.37
13 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011 2.97
14 A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 2007 2.84
15 Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet 2011 2.12
16 Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet 2011 1.83
17 A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet 2013 1.82
18 Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet 2012 1.68
19 Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 2010 1.67
20 Multiple loci are associated with white blood cell phenotypes. PLoS Genet 2011 1.65
21 MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet 2012 1.58
22 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012 1.50
23 Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011 1.48
24 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. PLoS Genet 2011 1.47
25 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. PLoS Genet 2011 1.45
26 NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging 2014 1.32
27 Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Res 2013 1.25
28 Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. PLoS Genet 2010 1.25
29 Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 2013 1.22
30 DNA methylation of lipid-related genes affects blood lipid levels. Circ Cardiovasc Genet 2015 1.12
31 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. PLoS One 2013 1.05
32 Genetic variation associated with circulating monocyte count in the eMERGE Network. Hum Mol Genet 2013 1.05
33 Alzheimer risk variant CLU and brain function during aging. Biol Psychiatry 2012 1.02
34 Principal-component analysis for assessment of population stratification in mitochondrial medical genetics. Am J Hum Genet 2010 1.02
35 SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol 2011 0.97
36 Structural genomic variation in ischemic stroke. Neurogenetics 2008 0.93
37 An exploratory analysis on gene-environment interactions for Parkinson disease. Neurobiol Aging 2012 0.90
38 Genetic comorbidities in Parkinson's disease. Hum Mol Genet 2013 0.89
39 Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat 2012 0.89
40 Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet 2016 0.88
41 Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. PLoS One 2011 0.87
42 Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. Neurosci Lett 2002 0.85
43 Towards a gene expression biomarker set for human biological age. Aging Cell 2013 0.78
44 A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2014 0.75
45 SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis 2017 0.75