| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | 2010/10/10 | English | 2,083 |
| Discovery and refinement of loci associated with lipid levels | 2013/10/06 | English | 2,067 |
| Mutations in PCSK9 cause autosomal dominant hypercholesterolemia | 2003/05/05 | English | 2,053 |
| Next-generation genotype imputation service and methods | 2016/08/29 | English | 2,002 |
| Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis | 2006/03/19 | English | 1,975 |
| The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation | 2005/12/25 | English | 1,962 |
| A new multipoint method for genome-wide association studies by imputation of genotypes | 2007/06/17 | English | 1,922 |
| Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers | 1997/04/01 | English | 1,894 |
| Detection of large-scale variation in the human genome | 2004/08/01 | English | 1,894 |
| The landscape of long noncoding RNAs in the human transcriptome | 2015/01/19 | English | 1,857 |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease | 2008/06/29 | English | 1,853 |
| Genome-wide efficient mixed-model analysis for association studies | 2012/06/17 | English | 1,834 |
| An embryonic stem cell–like gene expression signature in poorly differentiated aggressive human tumors | 2008/04/28 | English | 1,827 |
| Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease | 2009/09/06 | English | 1,823 |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | 2010/11/21 | English | 1,798 |
| Effective targeted gene ‘knockdown’ in zebrafish | 2000/10/01 | English | 1,778 |
| Variance component model to account for sample structure in genome-wide association studies | 2010/03/07 | English | 1,769 |
| A gene expression map of Arabidopsis thaliana development | 2005/04/03 | English | 1,760 |
| Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription | 1998/06/01 | English | 1,747 |
| The Oct4 and Nanog transcription network regulates pluripotency in mouse embryonic stem cells | 2006/03/05 | English | 1,728 |
| The role of site accessibility in microRNA target recognition | 2007/09/23 | English | 1,715 |
| Network motifs in the transcriptional regulation network of Escherichia coli | 2002/04/22 | English | 1,706 |
| Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse | 2001/01/01 | English | 1,701 |
| A reference panel of 64,976 haplotypes for genotype imputation | 2016/08/22 | English | 1,669 |
| Genome-wide association of IL28B with response to pegylated interferon-α and ribavirin therapy for chronic hepatitis C | 2009/09/13 | English | 1,666 |
| Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease | 2004/05/16 | English | 1,662 |
| Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease | 2009/09/06 | English | 1,647 |
| DNA double-strand breaks: signaling, repair and the cancer connection | 2001/03/01 | English | 1,629 |
| A molecular signature of metastasis in primary solid tumors | 2002/12/09 | English | 1,602 |
| Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations | 2018/08/13 | English | 1,597 |