| # | Title | Journal | Year | Citations |
|---|
| 1 | MetaboAnalyst 5.0: narrowing the gap between raw spectra and functional insights | Nucleic Acids Research | 2021 | 2,221 |
| 2 | Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease | Nature Genetics | 2011 | 1,685 |
| 3 | Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis | Nature Genetics | 2010 | 1,631 |
| 4 | Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma | Cancer Cell | 2012 | 1,551 |
| 5 | Large-scale association analysis identifies new risk loci for coronary artery disease | Nature Genetics | 2013 | 1,439 |
| 6 | Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes | Nature Genetics | 2018 | 1,124 |
| 7 | Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture | Nature Genetics | 2012 | 1,100 |
| 8 | An atlas of genetic influences on human blood metabolites | Nature Genetics | 2014 | 1,084 |
| 9 | Ten things you should know about transposable elements | Genome Biology | 2018 | 817 |
| 10 | K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas | Acta Neuropathologica | 2012 | 799 |
| 11 | Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus | Nature Genetics | 1997 | 745 |
| 12 | Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma | Nature Genetics | 2013 | 674 |
| 13 | Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: a multicentre study | Brain | 2019 | 636 |
| 14 | Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology | Nature Genetics | 2021 | 629 |
| 15 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics | 2012 | 621 |
| 16 | An atlas of genetic influences on osteoporosis in humans and mice | Nature Genetics | 2019 | 557 |
| 17 | Using MetaboAnalyst 5.0 for LC–HRMS spectra processing, multi-omics integration and covariate adjustment of global metabolomics data | Nature Protocols | 2022 | 556 |
| 18 | Confirmation of ProMisE: A simple, genomics‐based clinical classifier for endometrial cancer | Cancer | 2017 | 552 |
| 19 | A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk | Nature Genetics | 2009 | 540 |
| 20 | Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy | Nature Genetics | 1998 | 499 |
| 21 | Age-related remodelling of oesophageal epithelia by mutated cancer drivers | Nature | 2019 | 476 |
| 22 | miRNet 2.0: network-based visual analytics for miRNA functional analysis and systems biology | Nucleic Acids Research | 2020 | 461 |
| 23 | SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis | American Journal of Human Genetics | 2006 | 422 |
| 24 | 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 Genetics | 2012 | 419 |
| 25 | Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia | Nature Genetics | 2009 | 418 |
| 26 | Final validation of the ProMisE molecular classifier for endometrial carcinoma in a large population-based case series | Annals of Oncology | 2018 | 416 |
| 27 | Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis | Nature Genetics | 2017 | 391 |
| 28 | The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts | Genome Biology | 2014 | 384 |
| 29 | Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type | Nature Genetics | 2014 | 383 |
| 30 | Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma | Nature Genetics | 2014 | 381 |
| 31 | Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations | Acta Neuropathologica | 2012 | 376 |
| 32 | Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice | Nature Genetics | 1997 | 369 |
| 33 | Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor | Nature Genetics | 1996 | 365 |
| 34 | An atlas of over 90,000 conserved noncoding sequences provides insight into crucifer regulatory regions | Nature Genetics | 2013 | 350 |
| 35 | Insulin Storage and Glucose Homeostasis in Mice Null for the Granule Zinc Transporter ZnT8 and Studies of the Type 2 Diabetes–Associated Variants | Diabetes | 2009 | 347 |
| 36 | The retrovirus HERVH is a long noncoding RNA required for human embryonic stem cell identity | Nature Structural and Molecular Biology | 2014 | 347 |
| 37 | The Mitochondrial Transcription Factor TFAM Coordinates the Assembly of Multiple DNA Molecules into Nucleoid-like Structures | Molecular Biology of the Cell | 2007 | 340 |
| 38 | The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape | Nature | 2019 | 338 |
| 39 | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type | Nature Genetics | 2006 | 331 |
| 40 | Whole-genome sequencing in health care | European Journal of Human Genetics | 2013 | 330 |
| 41 | Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape | Science | 2016 | 327 |
| 42 | Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes | Nature Genetics | 2012 | 319 |
| 43 | Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia | Genome Biology | 2013 | 314 |
| 44 | Type I interferon restricts type 2 immunopathology through the regulation of group 2 innate lymphoid cells | Nature Immunology | 2016 | 305 |
| 45 | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases | American Journal of Human Genetics | 2017 | 305 |
| 46 | Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy | Nature Communications | 2020 | 300 |
| 47 | Childhood cerebellar tumours mirror conserved fetal transcriptional programs | Nature | 2019 | 293 |
| 48 | ThePAH gene, phenylketonuria, and a paradigm shift | Human Mutation | 2007 | 288 |
| 49 | Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation | Epigenetics | 2014 | 285 |
| 50 | Genome-wide analysis of transcript isoform variation in humans | Nature Genetics | 2008 | 283 |
