Published in Nucleic Acids Res on January 01, 2006
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Reconstructing the history of Mesoamerican populations through the study of the mitochondrial DNA control region. PLoS One (2012) 0.84
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes. PLoS One (2011) 0.83
Common mitochondrial polymorphisms as risk factor for endometrial cancer. Int Arch Med (2009) 0.83
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A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. Diabetes Care (2011) 0.82
Genetic uniqueness of the Waorani tribe from the Ecuadorian Amazon. Heredity (Edinb) (2012) 0.82
An inherited heteroplasmic mutation in mitochondrial gene COI in a patient with prostate cancer alters reactive oxygen, reactive nitrogen and proliferation. Biomed Res Int (2012) 0.82
V-MitoSNP: visualization of human mitochondrial SNPs. BMC Bioinformatics (2006) 0.82
Mitochondrial ATP 6 and 8 polymorphisms in irritable bowel syndrome with diarrhea. World J Gastroenterol (2013) 0.82
Biomarker Validation for Aging: Lessons from mtDNA Heteroplasmy Analyses in Early Cancer Detection. Biomark Insights (2009) 0.82
Systematic analysis of the clinical and biochemical characteristics of maternally inherited hypertension in Chinese Han families associated with mitochondrial. BMC Med Genomics (2014) 0.82
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Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population. PLoS One (2012) 0.81
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Factors affecting the relative abundance of nuclear copies of mitochondrial DNA (numts) in hominoids. J Mol Evol (2012) 0.81
Mitochondrial haplogroups and polymorphisms reveal no association with sporadic prostate cancer in a southern European population. PLoS One (2012) 0.81
Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus. BMC Res Notes (2012) 0.81
Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW. Mol Genet Metab Rep (2014) 0.81
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Mitochondrial Cytochrome c Oxidase subunit 1 Sequence Variation in Prostate Cancer. Scientifica (Cairo) (2012) 0.80
Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families. Invest Ophthalmol Vis Sci (2012) 0.80
Systematic association studies of mitochondrial DNA variations in schizophrenia: focus on the ND5 gene. Schizophr Bull (2007) 0.80
Mitochondrial sequence variation in African-American primary open-angle glaucoma patients. PLoS One (2013) 0.79
Ancestry of the Iban is predominantly Southeast Asian: genetic evidence from autosomal, mitochondrial, and Y chromosomes. PLoS One (2011) 0.79
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Mitochondrial DNA diversity in the African American population. Mitochondrial DNA (2013) 0.78
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Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. Mitochondrion (2011) 0.78
Coding constraints modulate chemically spontaneous mutational replication gradients in mitochondrial genomes. Curr Genomics (2012) 0.78
Mitochondrial mutations in subjects with psychiatric disorders. PLoS One (2015) 0.78
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Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clin Sci (Lond) (2015) 0.78
Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer. BMC Cancer (2008) 0.77
Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases. Exp Mol Med (2010) 0.77
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus. BMC Med Genet (2013) 0.77
Isolated cytochrome c oxidase deficiency as a cause of MELAS. BMJ Case Rep (2009) 0.76
Pathology-related mutation A7526G (A9G) helps in the understanding of the 3D structural core of human mitochondrial tRNA(Asp). RNA (2009) 0.76
Mitochondrial DNA sequence variation is largely conserved at birth with rare de novo mutations in neonates. Am J Obstet Gynecol (2015) 0.76
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor. Nucleic Acids Res (2016) 0.75
Mitochondrial DNA mutations in two bulgarian children with autistic spectrum disorders. Balkan J Med Genet (2012) 0.75
Discovering functional DNA elements using population genomic information: a proof of concept using human mtDNA. Genome Biol Evol (2014) 0.75
Excap: maximization of haplotypic diversity of linked markers. PLoS One (2013) 0.75
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PLoS One (2014) 0.75
Aboriginal mitogenomes reveal 50,000 years of regionalism in Australia. Nature (2017) 0.75
Coalescence computations for large samples drawn from populations of time-varying sizes. PLoS One (2017) 0.75
Mitochondrial genotype in vulvar carcinoma - cuckoo in the nest. J Biomed Sci (2010) 0.75
Clinical implications from proteomic studies in neurodegenerative diseases: lessons from mitochondrial proteins. Expert Rev Proteomics (2016) 0.75
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. BMJ Case Rep (2009) 0.75
Absence of mtDNA mutations in leukocytes of CADASIL patients. BMC Res Notes (2008) 0.75
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Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
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
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97
Genome-wide association study identifies five loci associated with lung function. Nat Genet (2009) 4.10
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
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
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet (2009) 3.18
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. Nat Struct Mol Biol (2011) 2.73
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet (2008) 2.66
Global and unbiased detection of splice junctions from RNA-seq data. Genome Biol (2010) 2.32
Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res (2003) 2.12
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS Genet (2012) 1.79
Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet (2009) 1.77
Continuous Aging of the Human DNA Methylome Throughout the Human Lifespan. PLoS One (2013) 1.74
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet (2012) 1.68
Genes predict village of origin in rural Europe. Eur J Hum Genet (2010) 1.61
Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins. PLoS Genet (2011) 1.60
Major gender difference in association of FTO gene variant among severely obese children with obesity and obesity related phenotypes. Biochem Biophys Res Commun (2008) 1.55
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. PLoS Genet (2013) 1.52
Real-time PCR-based system for simultaneous quantification of human papillomavirus types associated with high risk of cervical cancer. J Clin Microbiol (2003) 1.52
SNP frequency estimation using massively parallel sequencing of pooled DNA. Eur J Hum Genet (2008) 1.51
Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney Int (2009) 1.48
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation. PLoS Genet (2010) 1.43
Use of FTA card for dry collection, transportation and storage of cervical cell specimen to detect high-risk HPV. J Clin Virol (2009) 1.41
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
Type-specific associations of human papillomavirus load with risk of developing cervical carcinoma in situ. Int J Cancer (2004) 1.33
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Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors. Proc Natl Acad Sci U S A (2012) 1.17
Evidence of inbreeding depression on human height. PLoS Genet (2012) 1.16
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet (2012) 1.14
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
Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing. Genome Biol (2010) 1.13
A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS One (2011) 1.13
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Long noncoding RNA-mediated maintenance of DNA methylation and transcriptional gene silencing. Development (2012) 1.11
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
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Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data. BMC Genomics (2010) 1.02
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. Hum Mol Genet (2014) 1.02
HPV test shows low sensitivity of Pap screen in older women. Lancet Oncol (2010) 1.01
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
Identification of genetic variants influencing the human plasma proteome. Proc Natl Acad Sci U S A (2013) 1.00
Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults. Hum Mol Genet (2011) 0.99
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Affected sib-pair analysis of the contribution of HLA class I and class II loci to development of cervical cancer. Hum Mol Genet (2004) 0.98
Type-specific detection of high-risk human papillomavirus (HPV) in self-sampled cervicovaginal cells applied to FTA elute cartridge. J Clin Virol (2011) 0.97
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
Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels. PLoS Genet (2013) 0.97
A recent genetic link between Sami and the Volga-Ural region of Russia. Eur J Hum Genet (2006) 0.96
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Linkage disequilibrium between microsatellite markers in the Swedish Sami relative to a worldwide selection of populations. Hum Genet (2004) 0.95
Comparison between the Hybrid Capture 2 and the hpVIR real-time PCR for detection of human papillomavirus in women with ASCUS or low grade dysplasia. J Clin Virol (2009) 0.94
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Genetic architecture of circulating lipid levels. Eur J Hum Genet (2011) 0.88
Fas and FasL gene polymorphisms are not associated with cervical cancer but differ among Black and Mixed-ancestry South Africans. BMC Res Notes (2009) 0.88
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Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes (2012) 0.87
Identification of local selective sweeps in human populations since the exodus from Africa. Hereditas (2008) 0.87
The Northern Swedish Population Health Study (NSPHS)--a paradigmatic study in a rural population combining community health and basic research. Rural Remote Health (2010) 0.86
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Genome-wide analysis of chimpanzee genes with premature termination codons. BMC Genomics (2009) 0.85
A Fas gene polymorphism influences herpes simplex virus type 2 infection in South African women. J Med Virol (2010) 0.82
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits. Eur J Hum Genet (2011) 0.82
Common variants in Mendelian kidney disease genes and their association with renal function. J Am Soc Nephrol (2013) 0.82
A cis-eQTL of HLA-DRB1 and a frameshift mutation of MICA contribute to the pattern of association of HLA alleles with cervical cancer. Cancer Med (2014) 0.81
Glycomics meets lipidomics--associations of N-glycans with classical lipids, glycerophospholipids, and sphingolipids in three European populations. Mol Biosyst (2011) 0.81
Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. PLoS One (2009) 0.81
A variant upstream of HLA-DRB1 and multiple variants in MICA influence susceptibility to cervical cancer in a Swedish population. Cancer Med (2014) 0.80
Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies. Eur J Hum Genet (2008) 0.80
Multiply-primed rolling circle amplification of human papillomavirus using sequence-specific primers. Virology (2012) 0.80
Human enterovirus species B in ileocecal Crohn's disease. Clin Transl Gastroenterol (2013) 0.80
A novel method for automatic genotyping of microsatellite markers based on parametric pattern recognition. Hum Genet (2003) 0.80
Polymorphisms in sh2b1 and spns1 loci are associated with triglyceride levels in a healthy population in northern Sweden. J Genet (2012) 0.78
Animal source food intake and association with blood cholesterol, glycerophospholipids and sphingolipids in a northern Swedish population. Int J Circumpolar Health (2013) 0.78
Prevalence and sensitization of atopic allergy and coeliac disease in the Northern Sweden Population Health Study. Int J Circumpolar Health (2013) 0.78
Increased alpha-9 human papillomavirus species viral load in human immunodeficiency virus positive women. BMC Infect Dis (2014) 0.78
Projected cost-effectiveness of repeat high-risk human papillomavirus testing using self-collected vaginal samples in the Swedish cervical cancer screening program. Acta Obstet Gynecol Scand (2013) 0.76
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
[Is the HPV test to supplement vaginal smears in menopausal women?]. Lakartidningen (2010) 0.75
Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep (2017) 0.75
Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PLoS Genet (2017) 0.75
Variants in STAT5B associate with serum TC and LDL-C levels. J Clin Endocrinol Metab (2011) 0.75
Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. J Mol Neurosci (2012) 0.75