Published in Am J Hum Genet on December 06, 2006
Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet (2008) 20.38
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry (2007) 6.72
Gene--environment-wide association studies: emerging approaches. Nat Rev Genet (2010) 6.10
Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet (2008) 3.33
Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays. Nucleic Acids Res (2008) 3.08
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm (Vienna) (2008) 2.43
A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics (2008) 2.20
Genome-wide quantitative trait locus association scan of general cognitive ability using pooled DNA and 500K single nucleotide polymorphism microarrays. Genes Brain Behav (2008) 2.08
Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. Bipolar Disord (2009) 1.90
New perspectives for the elucidation of genetic disorders. Am J Hum Genet (2007) 1.89
A three-stage genome-wide association study of general cognitive ability: hunting the small effects. Behav Genet (2010) 1.85
A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples. Behav Genet (2009) 1.75
Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms. PLoS One (2008) 1.72
Molecular genetics of addiction and related heritable phenotypes: genome-wide association approaches identify "connectivity constellation" and drug target genes with pleiotropic effects. Ann N Y Acad Sci (2008) 1.69
GRM7 variants confer susceptibility to age-related hearing impairment. Hum Mol Genet (2008) 1.49
Trait-stratified genome-wide association study identifies novel and diverse genetic associations with serologic and cytokine phenotypes in systemic lupus erythematosus. Arthritis Res Ther (2010) 1.45
Rapid inexpensive genome-wide association using pooled whole blood. Genome Res (2009) 1.41
APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway. BMC Neurol (2008) 1.41
A genome-wide association study identifies multiple loci associated with mathematics ability and disability. Genes Brain Behav (2009) 1.25
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. Am J Hum Genet (2007) 1.24
Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet (2010) 1.23
Applicability of DNA pools on 500 K SNP microarrays for cost-effective initial screens in genomewide association studies. BMC Genomics (2007) 1.22
"Higher order" addiction molecular genetics: convergent data from genome-wide association in humans and mice. Biochem Pharmacol (2007) 1.22
Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies. Bioinformatics (2008) 1.21
Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans. Hum Genet (2009) 1.20
A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. PLoS Genet (2012) 1.17
The SNPMaP package for R: a framework for genome-wide association using DNA pooling on microarrays. Bioinformatics (2008) 1.15
Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples. PLoS Genet (2010) 1.14
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet (2010) 1.14
Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia. Am J Respir Crit Care Med (2011) 1.14
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet (2009) 1.11
MPDA: microarray pooled DNA analyzer. BMC Bioinformatics (2008) 1.11
Familial and genetic risk of transitional cell carcinoma of the urinary tract. Urol Oncol (2008) 1.11
Methodological Issues in Multistage Genome-wide Association Studies. Stat Sci (2009) 1.06
A genome-wide survey does not show the genetic distinctiveness of Basques. Hum Genet (2010) 1.03
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Hum Genet (2013) 0.99
Optimal DNA pooling-based two-stage designs in case-control association studies. Hum Hered (2008) 0.97
Pooling-based genome-wide association study implicates gamma-glutamyltransferase 1 (GGT1) gene in pancreatic carcinogenesis. Pancreatology (2010) 0.94
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies. BMC Bioinformatics (2010) 0.94
A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). BMC Med Genet (2009) 0.92
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet (2011) 0.92
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet (2008) 0.91
The nature of nurture: a genomewide association scan for family chaos. Behav Genet (2008) 0.87
Estimates of array and pool-construction variance for planning efficient DNA-pooling genome wide association studies. BMC Med Genomics (2011) 0.84
Identifying individuals in a complex mixture of DNA with unknown ancestry. Stat Appl Genet Mol Biol (2009) 0.83
Pooled genome-wide analysis to identify novel risk loci for pediatric allergic asthma. PLoS One (2011) 0.83
A common variant in myosin-18B contributes to mathematical abilities in children with dyslexia and intraparietal sulcus variability in adults. Transl Psychiatry (2013) 0.83
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration. Sci Rep (2016) 0.82
Fast and accurate haplotype frequency estimation for large haplotype vectors from pooled DNA data. BMC Genet (2012) 0.82
Systems biology and heart failure: concepts, methods, and potential research applications. Heart Fail Rev (2010) 0.82
Utility of the pooling approach as applied to whole genome association scans with high-density Affymetrix microarrays. BMC Res Notes (2010) 0.82
Genetic implication of a novel thiamine transporter in human hypertension. J Am Coll Cardiol (2014) 0.81
Genetic analysis of interleukin-1A C(-889)T polymorphism with Alzheimer disease. Cell Mol Neurobiol (2008) 0.81
Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal. PLoS One (2015) 0.80
Single-nucleotide polymorphism bioinformatics: a comprehensive review of resources. Circ Cardiovasc Genet (2009) 0.80
A new analysis tool for individual-level allele frequency for genomic studies. BMC Genomics (2010) 0.80
The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA. Hum Genet (2011) 0.79
Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort. J Psychiatr Res (2013) 0.79
Modifiers of hearing impairment in humans and mice. Curr Genomics (2010) 0.79
Comparison of genotyping using pooled DNA samples (allelotyping) and individual genotyping using the affymetrix genome-wide human SNP array 6.0. BMC Genomics (2013) 0.78
Identification of susceptibility genes for peritoneal, ovarian, and deep infiltrating endometriosis using a pooled sample-based genome-wide association study. Biomed Res Int (2015) 0.77
A comparison of association statistics between pooled and individual genotypes. Hum Hered (2009) 0.77
DNA methylation levels are highly correlated between pooled samples and averaged values when analysed using the Infinium HumanMethylation450 BeadChip array. Clin Epigenetics (2015) 0.77
Genome-Wide Association Study of Acute Renal Graft Rejection. Am J Transplant (2016) 0.76
UPDG: utilities package for data analysis of pooled DNA GWAS. BMC Genet (2012) 0.76
Identification of Susceptibility Genes of Adult Asthma in French Canadian Women. Can Respir J (2016) 0.75
Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax. PLoS One (2016) 0.75
Statistical comparison framework and visualization scheme for ranking-based algorithms in high-throughput genome-wide studies. J Comput Biol (2009) 0.75
Maximum-parsimony haplotype frequencies inference based on a joint constrained sparse representation of pooled DNA. BMC Bioinformatics (2013) 0.75
Novel HLA-DP region susceptibility loci associated with severe acute GvHD. Bone Marrow Transplant (2016) 0.75
A haplotype map of the human genome. Nature (2005) 105.70
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet (2006) 17.36
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics (2005) 10.43
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A (2004) 7.70
DNA Pooling: a tool for large-scale association studies. Nat Rev Genet (2002) 5.66
High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc Natl Acad Sci U S A (2001) 4.31
Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology (1994) 4.24
The use of MassARRAY technology for high throughput genotyping. Adv Biochem Eng Biotechnol (2002) 3.08
Association testing by DNA pooling: an effective initial screen. Proc Natl Acad Sci U S A (2002) 2.79
Validity and reliability of the preliminary NINDS neuropathologic criteria for progressive supranuclear palsy and related disorders. J Neuropathol Exp Neurol (1996) 2.68
Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design. Ann Hum Genet (2002) 2.51
Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans. Nucleic Acids Res (2006) 2.33
Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology (2003) 2.32
Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Hum Genet (2000) 2.26
How to decide? Different methods of calculating gene expression from short oligonucleotide array data will give different results. BMC Bioinformatics (2006) 2.13
SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis. Nucleic Acids Res (2002) 2.12
Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. Am J Med Genet B Neuropsychiatr Genet (2006) 2.09
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet (2005) 2.08
Pooled association genome scanning: validation and use to identify addiction vulnerability loci in two samples. Proc Natl Acad Sci U S A (2005) 2.00
SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children. Hum Mol Genet (2005) 1.91
Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates. Nucleic Acids Res (2006) 1.88
Identification of disease causing loci using an array-based genotyping approach on pooled DNA. BMC Genomics (2005) 1.83
Application of pooled genotyping to scan candidate regions for association with HDL cholesterol levels. Hum Genomics (2004) 1.71
A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays. Nucleic Acids Res (2005) 1.71
DNA pooling as a tool for large-scale association studies in complex traits. Ann Med (2004) 1.70
Genotyping DNA pools on microarrays: tackling the QTL problem of large samples and large numbers of SNPs. BMC Genomics (2005) 1.68
Two-stage designs in case-control association analysis. Genetics (2006) 1.65
The impacts of errors in individual genotyping and DNA pooling on association studies. Genet Epidemiol (2004) 1.52
PPC: an algorithm for accurate estimation of SNP allele frequencies in small equimolar pools of DNA using data from high density microarrays. Nucleic Acids Res (2005) 1.50
Association analysis of mild mental impairment using DNA pooling to screen 432 brain-expressed single-nucleotide polymorphisms. Mol Psychiatry (2005) 1.46
Silhouette scores for assessment of SNP genotype clusters. BMC Genomics (2005) 1.44
Automated genotyping using the DNA MassArray technology. Methods Mol Biol (2001) 1.42
Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism. Proc Natl Acad Sci U S A (2003) 1.33
Risk and protective effects of the APOE gene towards Alzheimer's disease in the Kungsholmen project: variation by age and sex. J Neurol Neurosurg Psychiatry (2004) 1.25
SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data. BMC Genomics (2005) 1.19
Streamlined analysis of pooled genotype data in SNP-based association studies. Genet Epidemiol (2005) 1.18
Large-scale validation of single nucleotide polymorphisms in gene regions. Genome Res (2004) 1.13
Applications of whole-genome high-density SNP genotyping. Expert Rev Mol Diagn (2005) 1.12
Mining disease susceptibility genes through SNP analyses and expression profiling using MALDI-TOF mass spectrometry. J Proteome Res (2004) 1.12
Apolipoprotein E and intellectual achievement. J Am Geriatr Soc (2002) 1.06
Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: a replication study. J Neurol Sci (2001) 1.06
LRRK2 mutations are not common in Alzheimer's disease. Mech Ageing Dev (2005) 0.98
A genome-wide study of preferential amplification/hybridization in microarray-based pooled DNA experiments. Nucleic Acids Res (2006) 0.95
PDA: Pooled DNA analyzer. BMC Bioinformatics (2006) 0.94
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Toward defining the preclinical stages of Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 24.02
An integrated semiconductor device enabling non-optical genome sequencing. Nature (2011) 20.85
Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet (2008) 20.38
A survey of sequence alignment algorithms for next-generation sequencing. Brief Bioinform (2010) 18.05
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
A survey of genetic human cortical gene expression. Nat Genet (2007) 12.04
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
A translational profiling approach for the molecular characterization of CNS cell types. Cell (2008) 8.69
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A (2004) 7.70
Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods (2008) 7.50
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry (2007) 7.23
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron (2007) 6.88
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol (2007) 5.98
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med (2012) 5.49
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med (2006) 5.28
Protective variant for hippocampal atrophy identified by whole exome sequencing. Ann Neurol (2015) 5.10
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet (2006) 4.80
Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. Nat Rev Drug Discov (2010) 4.55
Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. N Engl J Med (2009) 4.45
Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell (2013) 4.45
Antibodies against beta-amyloid slow cognitive decline in Alzheimer's disease. Neuron (2003) 4.39
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
VPS35 mutations in Parkinson disease. Am J Hum Genet (2011) 4.16
Associations between cognitive, functional, and FDG-PET measures of decline in AD and MCI. Neurobiol Aging (2009) 3.97
Genetic control of individual differences in gene-specific methylation in human brain. Am J Hum Genet (2010) 3.91
Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet (2008) 3.79
Elevated beta-secretase expression and enzymatic activity detected in sporadic Alzheimer disease. Nat Med (2003) 3.78
Cerebral PET with florbetapir compared with neuropathology at autopsy for detection of neuritic amyloid-β plaques: a prospective cohort study. Lancet Neurol (2012) 3.66
Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study. Lancet Neurol (2012) 3.48
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet (2009) 3.35
Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med (2007) 3.33
A plaque-specific antibody clears existing β-amyloid plaques in Alzheimer's disease mice. Neuron (2012) 3.32
Common Kibra alleles are associated with human memory performance. Science (2006) 3.30
The Alzheimer's Disease Neuroimaging Initiative positron emission tomography core. Alzheimers Dement (2010) 3.30
Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. Neuroimage (2010) 3.27
Longitudinal PET Evaluation of Cerebral Metabolic Decline in Dementia: A Potential Outcome Measure in Alzheimer's Disease Treatment Studies. Am J Psychiatry (2002) 3.20
U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PLoS Genet (2010) 2.99
Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides. Blood (2012) 2.98
Brain abnormalities in human obesity: a voxel-based morphometric study. Neuroimage (2006) 2.94
Multicenter standardized 18F-FDG PET diagnosis of mild cognitive impairment, Alzheimer's disease, and other dementias. J Nucl Med (2008) 2.92
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91
Amyloid beta peptide load is correlated with increased beta-secretase activity in sporadic Alzheimer's disease patients. Proc Natl Acad Sci U S A (2004) 2.88
The role of biomarkers in clinical trials for Alzheimer disease. Alzheimer Dis Assoc Disord (2006) 2.86
Using positron emission tomography and florbetapir F18 to image cortical amyloid in patients with mild cognitive impairment or dementia due to Alzheimer disease. Arch Neurol (2011) 2.81
Categorical and correlational analyses of baseline fluorodeoxyglucose positron emission tomography images from the Alzheimer's Disease Neuroimaging Initiative (ADNI). Neuroimage (2009) 2.80
Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans. Alzheimers Dement (2010) 2.79