# | Title | Journal | Year | Citations |
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1 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,992 |
2 | Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease | Nature | 1995 | 3,923 |
3 | Discovery and refinement of loci associated with lipid levels | Nature Genetics | 2013 | 2,742 |
4 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,676 |
5 | Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain | Nature | 2001 | 2,581 |
6 | Defining the role of common variation in the genomic and biological architecture of adult human height | Nature Genetics | 2014 | 1,855 |
7 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,804 |
8 | A complex secretory program orchestrated by the inflammasome controls paracrine senescence | Nature Cell Biology | 2013 | 1,660 |
9 | Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis | Nature Genetics | 2010 | 1,658 |
10 | Telomere reduction in human colorectal carcinoma and with ageing | Nature | 1990 | 1,620 |
11 | Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer | Nature | 1994 | 1,528 |
12 | Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans | Nature | 2009 | 1,437 |
13 | New genetic loci link adipose and insulin biology to body fat distribution | Nature | 2015 | 1,389 |
14 | Mouse Small eye results from mutations in a paired-like homeobox-containing gene | Nature | 1991 | 1,269 |
15 | Mapping genomic loci implicates genes and synaptic biology in schizophrenia | Nature | 2022 | 1,236 |
16 | Genome-wide analysis of mammalian promoter architecture and evolution | Nature Genetics | 2006 | 1,227 |
17 | Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors | Genes Chromosomes and Cancer | 1994 | 1,218 |
18 | Optical Projection Tomography as a Tool for 3D Microscopy and Gene Expression Studies | Science | 2002 | 1,142 |
19 | Disruption of two novel genes by a translocation co-segregating with schizophrenia | Human Molecular Genetics | 2000 | 1,138 |
20 | Genetic mechanisms of critical illness in COVID-19 | Nature | 2021 | 1,108 |
21 | A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly | Human Molecular Genetics | 2003 | 1,021 |
22 | Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits | Nature Genetics | 2018 | 1,019 |
23 | The DNA sequence of the human X chromosome | Nature | 2005 | 1,001 |
24 | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility | Nature Genetics | 2014 | 982 |
25 | The SR protein family of splicing factors: master regulators of gene expression | Biochemical Journal | 2009 | 960 |
26 | Pax6 Controls Progenitor Cell Identity and Neuronal Fate in Response to Graded Shh Signaling | Cell | 1997 | 953 |
27 | Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans | Nature Genetics | 1995 | 926 |
28 | Cdk1 is sufficient to drive the mammalian cell cycle | Nature | 2007 | 912 |
29 | Structure and Function of the CFTR Chloride Channel | Physiological Reviews | 1999 | 875 |
30 | Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution | Nature Genetics | 2010 | 853 |
31 | Differences in the Localization and Morphology of Chromosomes in the Human Nucleus | Journal of Cell Biology | 1999 | 837 |
32 | Dominant role of the niche in melanocyte stem-cell fate determination | Nature | 2002 | 837 |
33 | The candidate Wilms' tumour gene is involved in genitourinary development | Nature | 1990 | 822 |
34 | Eleven grand challenges in single-cell data science | Genome Biology | 2020 | 809 |
35 | Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts | PLoS Medicine | 2013 | 775 |
36 | Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease | American Journal of Human Genetics | 2005 | 774 |
37 | Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus | Nature Genetics | 2006 | 772 |
38 | Common variants associated with plasma triglycerides and risk for coronary artery disease | Nature Genetics | 2013 | 768 |
39 | Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways | Nature Genetics | 2012 | 760 |
40 | Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis | Nature Medicine | 1995 | 738 |
41 | Ubiquitin and ubiquitin-like proteins as multifunctional signals | Nature Reviews Molecular Cell Biology | 2005 | 728 |
42 | New loci associated with kidney function and chronic kidney disease | Nature Genetics | 2010 | 722 |
43 | The BioMart community portal: an innovative alternative to large, centralized data repositories | Nucleic Acids Research | 2015 | 711 |
44 | SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout | Nature Genetics | 2008 | 694 |
45 | The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression | Cell | 1993 | 691 |
46 | Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24 | Nature Genetics | 2007 | 680 |
47 | Association within a family of a balanced autosomal translocation with major mental illness | Lancet, The | 1990 | 676 |
48 | Bcl2 Regulation by the Melanocyte Master Regulator Mitf Modulates Lineage Survival and Melanoma Cell Viability | Cell | 2002 | 675 |
49 | Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations | Journal of the National Cancer Institute | 1998 | 657 |
50 | Identification of common variants associated with human hippocampal and intracranial volumes | Nature Genetics | 2012 | 609 |