| # | Title | Journal | Year | Citations |
|---|
| 1 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,249 |
| 2 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 3 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,789 |
| 4 | Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture | Nature Genetics | 2012 | 1,100 |
| 5 | Association analysis identifies 65 new breast cancer risk loci | Nature | 2017 | 1,099 |
| 6 | Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations | Nature Genetics | 2002 | 1,001 |
| 7 | Senescence-associated β-galactosidase is lysosomal β-galactosidase | Aging Cell | 2006 | 991 |
| 8 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk | Nature Genetics | 2013 | 960 |
| 9 | 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 | 836 |
| 10 | A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study | Lancet Oncology, The | 2009 | 826 |
| 11 | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance | Nature Genetics | 2012 | 762 |
| 12 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes | American Journal of Human Genetics | 2019 | 711 |
| 13 | Genome-wide association study identifies five new breast cancer susceptibility loci | Nature Genetics | 2010 | 653 |
| 14 | Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior | Nature Genetics | 2010 | 649 |
| 15 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics | 2012 | 621 |
| 16 | Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy | Movement Disorders | 2017 | 608 |
| 17 | Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes | Nature Neuroscience | 2019 | 604 |
| 18 | The Fragile X Syndrome Protein FMRP Associates with BC1 RNA and Regulates the Translation of Specific mRNAs at Synapses | Cell | 2003 | 603 |
| 19 | A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis | Nature | 2006 | 601 |
| 20 | Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis | Nature Genetics | 2011 | 583 |
| 21 | A Single Oncogenic Enhancer Rearrangement Causes Concomitant EVI1 and GATA2 Deregulation in Leukemia | Cell | 2014 | 571 |
| 22 | Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche | Nature | 2014 | 548 |
| 23 | Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance | Gastroenterology | 2004 | 536 |
| 24 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer | Nature Genetics | 2015 | 513 |
| 25 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 493 |
| 26 | Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly | Science | 2005 | 474 |
| 27 | EFNS/MDS‐ES recommendations for the diagnosis of Parkinson's disease | European Journal of Neurology | 2013 | 460 |
| 28 | Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution | PLoS Genetics | 2009 | 453 |
| 29 | Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 | Nature Genetics | 2009 | 434 |
| 30 | Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis | Lancet Neurology, The | 2015 | 432 |
| 31 | Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders | Brain | 2017 | 426 |
| 32 | Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function | Nature Communications | 2016 | 412 |
| 33 | Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex | European Journal of Human Genetics | 2005 | 405 |
| 34 | Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure | Nature Genetics | 2011 | 403 |
| 35 | Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia | Nature Genetics | 2013 | 398 |
| 36 | Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer | JAMA - Journal of the American Medical Association | 2015 | 390 |
| 37 | Novel prognostic subgroups in childhood 11q23/MLL-rearranged acute myeloid leukemia: results of an international retrospective study | Blood | 2009 | 383 |
| 38 | Genome-wide association studies identify four ER negative–specific breast cancer risk loci | Nature Genetics | 2013 | 374 |
| 39 | Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits | PLoS Genetics | 2013 | 371 |
| 40 | Proteomic Analysis of Exosomes Isolated from Human Malignant Pleural Effusions | American Journal of Respiratory Cell and Molecular Biology | 2004 | 366 |
| 41 | DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism | Neurological Sciences | 2003 | 363 |
| 42 | New insights to the MLL recombinome of acute leukemias | Leukemia | 2009 | 363 |
| 43 | Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome | Nature Genetics | 2006 | 354 |
| 44 | Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL | Nature Genetics | 2007 | 346 |
| 45 | Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease | American Journal of Human Genetics | 2012 | 343 |
| 46 | The structure-specific endonuclease Mus81 contributes to replication restart by generating double-strand DNA breaks | Nature Structural and Molecular Biology | 2007 | 342 |
| 47 | Meta-analysis of genome-wide association studies for personality | Molecular Psychiatry | 2012 | 340 |
| 48 | A Functional Role for Tumor Cell Heterogeneity in a Mouse Model of Small Cell Lung Cancer | Cancer Cell | 2011 | 330 |
| 49 | Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk | Pediatrics | 2004 | 326 |
| 50 | Integrated Transcript and Genome Analyses Reveal NKX2-1 and MEF2C as Potential Oncogenes in T Cell Acute Lymphoblastic Leukemia | Cancer Cell | 2011 | 322 |
