Published in Neuromuscul Disord on June 27, 2006
Desminopathies: pathology and mechanisms. Acta Neuropathol (2012) 1.17
Intermediate filament diseases: desminopathy. Adv Exp Med Biol (2008) 1.11
Primary desminopathies. J Cell Mol Med (2007) 0.97
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat (2011) 0.84
Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression. PLoS One (2014) 0.81
Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain. Eur Neurol (2012) 0.78
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Lung cancer susceptibility locus at 5p15.33. Nat Genet (2008) 5.99
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
Meat, fish, and colorectal cancer risk: the European Prospective Investigation into cancer and nutrition. J Natl Cancer Inst (2005) 4.45
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Body size and risk of colon and rectal cancer in the European Prospective Investigation Into Cancer and Nutrition (EPIC). J Natl Cancer Inst (2006) 4.17
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet (2010) 3.93
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55
The making of the African mtDNA landscape. Am J Hum Genet (2002) 3.52
Reconstructing Native American population history. Nature (2012) 3.49
Modified Mediterranean diet and survival: EPIC-elderly prospective cohort study. BMJ (2005) 3.48
Idiopathic pulmonary fibrosis and emphysema: decreased survival associated with severe pulmonary arterial hypertension. Chest (2009) 3.42
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet (2012) 3.34
The association of pattern of lifetime alcohol use and cause of death in the European prospective investigation into cancer and nutrition (EPIC) study. Int J Epidemiol (2013) 3.23
Consumption of vegetables and fruits and risk of breast cancer. JAMA (2005) 3.02
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet (2010) 2.96
Fruit, vegetables, and colorectal cancer risk: the European Prospective Investigation into Cancer and Nutrition. Am J Clin Nutr (2009) 2.93
Fruit and vegetable intake and the risk of stomach and oesophagus adenocarcinoma in the European Prospective Investigation into Cancer and Nutrition (EPIC-EURGAST). Int J Cancer (2006) 2.89
Evaluation of human papillomavirus antibodies and risk of subsequent head and neck cancer. J Clin Oncol (2013) 2.87
The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet (2004) 2.63
Hepatocellular carcinoma risk factors and disease burden in a European cohort: a nested case-control study. J Natl Cancer Inst (2011) 2.63
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet (2013) 2.62
A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis (2006) 2.59
Inducible bronchus-associated lymphoid tissue (iBALT) in patients with pulmonary complications of rheumatoid arthritis. J Clin Invest (2006) 2.56
Cigarette smoking, environmental tobacco smoke exposure and pancreatic cancer risk in the European Prospective Investigation into Cancer and Nutrition. Int J Cancer (2010) 2.47
Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet (2011) 2.47
Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. Nat Genet (2010) 2.45
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet (2011) 2.21
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics (2013) 2.11
N-acetyltransferase 2 phenotype, occupation, and bladder cancer risk: results from the EPIC cohort. Cancer Epidemiol Biomarkers Prev (2013) 2.01
Is concordance with World Cancer Research Fund/American Institute for Cancer Research guidelines for cancer prevention related to subsequent risk of cancer? Results from the EPIC study. Am J Clin Nutr (2012) 1.98
Accuracy of self-reported diabetes, hypertension and hyperlipidemia in the adult Spanish population. DINO study findings. Rev Esp Cardiol (2009) 1.98
A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med (2005) 1.96
A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem Biophys Res Commun (2005) 1.93
Accelerated variant of idiopathic pulmonary fibrosis: clinical behavior and gene expression pattern. PLoS One (2007) 1.88
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet (2013) 1.85
Spread of Escherichia coli strains with high-level cefotaxime and ceftazidime resistance between the community, long-term care facilities, and hospital institutions. J Clin Microbiol (2006) 1.85
Prediagnostic circulating vitamin D levels and risk of hepatocellular carcinoma in European populations: a nested case-control study. Hepatology (2014) 1.75
SNPs in forensic genetics: a review on SNP typing methodologies. Forensic Sci Int (2005) 1.74
Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas. PLoS Genet (2012) 1.74
Blood levels of glutamate oxaloacetate transaminase are more strongly associated with good outcome in acute ischaemic stroke than glutamate pyruvate transaminase levels. Clin Sci (Lond) (2011) 1.73
Impact of cigarette smoking on cancer risk in the European prospective investigation into cancer and nutrition study. J Clin Oncol (2012) 1.70
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet (2011) 1.68
Fiber intake and total and cause-specific mortality in the European Prospective Investigation into Cancer and Nutrition cohort. Am J Clin Nutr (2012) 1.66
The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula. Am J Hum Genet (2008) 1.64
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain (2005) 1.63
Aberrant DNA methylation of cancer-associated genes in gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC-EURGAST). Cancer Lett (2011) 1.62
The genetic legacy of western Bantu migrations. Hum Genet (2005) 1.62
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol (2006) 1.62
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59
Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases. Forensic Sci Int (2002) 1.59
Testing for kinship in a subdivided population. Forensic Sci Int (2003) 1.58
Plasma phospholipid fatty acid profiles and their association with food intakes: results from a cross-sectional study within the European Prospective Investigation into Cancer and Nutrition. Am J Clin Nutr (2008) 1.57
Physical activity and risk of colon and rectal cancers: the European prospective investigation into cancer and nutrition. Cancer Epidemiol Biomarkers Prev (2006) 1.56
Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology (2013) 1.55
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord (2011) 1.55
Meat intake and risk of stomach and esophageal adenocarcinoma within the European Prospective Investigation Into Cancer and Nutrition (EPIC). J Natl Cancer Inst (2006) 1.55
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat (2003) 1.54
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Prognostic significance of multidetector CT in normotensive patients with pulmonary embolism: results of the protect study. Thorax (2013) 1.51
SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access. BMC Bioinformatics (2008) 1.51
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve (2003) 1.50
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry (2012) 1.50
TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients. Radiother Oncol (2012) 1.49
Alcohol consumption and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. Am J Clin Nutr (2011) 1.48
New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0. PLoS One (2009) 1.47
Charting the ancestry of African Americans. Am J Hum Genet (2005) 1.47
ISFG: Recommendations on biostatistics in paternity testing. Forensic Sci Int Genet (2007) 1.46
Meat, eggs, dairy products, and risk of breast cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. Am J Clin Nutr (2009) 1.45
The human early-life exposome (HELIX): project rationale and design. Environ Health Perspect (2014) 1.44
Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3. PLoS One (2011) 1.41
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet (2008) 1.40
Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA. Am J Phys Anthropol (2005) 1.40
Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population. Hum Genet (2003) 1.39
A new multiplex for human identification using insertion/deletion polymorphisms. Electrophoresis (2009) 1.38
A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations. Int J Legal Med (2008) 1.38
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38
Legionnaires' disease outbreak in Murcia, Spain. Emerg Infect Dis (2003) 1.38
Physical activity and breast cancer risk: the European Prospective Investigation into Cancer and Nutrition. Cancer Epidemiol Biomarkers Prev (2006) 1.38
Myotilinopathy: refining the clinical and myopathological phenotype. Brain (2005) 1.37
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Hum Mol Genet (2011) 1.34
Circulating C-reactive protein concentrations and risks of colon and rectal cancer: a nested case-control study within the European Prospective Investigation into Cancer and Nutrition. Am J Epidemiol (2010) 1.34
Alcohol intake and breast cancer risk: the European Prospective Investigation into Cancer and Nutrition (EPIC). Cancer Causes Control (2007) 1.33
Dietary patterns among older Europeans: the EPIC-Elderly study. Br J Nutr (2005) 1.33
Fruit and vegetable consumption and lung cancer risk: updated information from the European Prospective Investigation into Cancer and Nutrition (EPIC). Int J Cancer (2007) 1.33
Anthropometry, physical activity, and the risk of pancreatic cancer in the European prospective investigation into cancer and nutrition. Cancer Epidemiol Biomarkers Prev (2006) 1.32
Cultural adaptation of the Latin American version of the World Health Organization Composite International Diagnostic Interview (WHO-CIDI) (v 3.0) for use in Spain. Gac Sanit (2012) 1.32
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
Publication of population data for forensic purposes. Forensic Sci Int Genet (2010) 1.31
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain (2006) 1.29
Dietary patterns and survival of older Europeans: the EPIC-Elderly Study (European Prospective Investigation into Cancer and Nutrition). Public Health Nutr (2007) 1.28
Adherence to the Mediterranean diet and risk of coronary heart disease in the Spanish EPIC Cohort Study. Am J Epidemiol (2009) 1.28