384
Articles
14.5K
Citations
3.3
avg. Impact Factor
57
h-index

Most Cited Articles of Section of Biology and Genetics

TitleJournalYearCitations
MicroRNA expression abnormalities in pancreatic endocrine and acinar tumors are associated with distinctive pathologic features and clinical behaviorJournal of Clinical Oncology2006658
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarctionNature Genetics2009627
Genome-wide association analyses identify 18 new loci associated with serum urate concentrationsNature Genetics2013505
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycansHuman Mutation2007504
Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and humanNature2012484
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceJournal of Cystic Fibrosis2008403
Characterization of transcriptional complexity during berry development in Vitis vinifera using RNA-SeqPlant Physiology2010294
Waist-to-height ratio, a useful index to identify high metabolic risk in overweight childrenJournal of Pediatrics2008277
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypesNeurology2005276
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson diseaseNeurology2007270
Recommendations for the classification of diseases as CFTR-related disordersJournal of Cystic Fibrosis2011250
FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery diseaseAmerican Journal of Clinical Nutrition2008241
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetesNature Genetics2018221
Use of a levonorgestrel-releasing intrauterine device in the treatment of rectovaginal endometriosisFertility and Sterility2001215
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignAmerican Journal of Human Genetics2004199
SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular diseaseLipids2008192
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panelNature Communications2015186
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertensionNature Genetics2016181
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitisNature Genetics2006181
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsEuropean Journal of Human Genetics2009173
Methylenetetrahydrofolate Reductase C677T Mutation, Plasma Homocysteine, and Folate in Subjects From Northern Italy With or Without Angiographically Documented Severe Coronary Atherosclerotic Disease: Evidence for an Important Genetic-Environmental InteractionBlood1998171
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasisHuman Molecular Genetics1995166
Molecular basis for the recently described hereditary hyperferritinemia- cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") [see comments]Blood1995164
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysmNature Genetics2010155
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibilityNature Communications2015147