| # | Title | Journal | Year | Citations |
|---|
| 1 | The FAIR Guiding Principles for scientific data management and stewardship | Scientific Data | 2016 | 8,670 |
| 2 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 3 | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk | Nature Genetics | 2010 | 1,982 |
| 4 | Transcriptome and genome sequencing uncovers functional variation in humans | Nature | 2013 | 1,857 |
| 5 | Analysis of shared heritability in common disorders of the brain | Science | 2018 | 1,085 |
| 6 | Coding of facial expressions of pain in the laboratory mouse | Nature Methods | 2010 | 1,024 |
| 7 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk | Nature Genetics | 2013 | 960 |
| 8 | LOVD v.2.0: the next generation in gene variant databases | Human Mutation | 2011 | 854 |
| 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 | FcγRI (CD64) Contributes Substantially to Severity of Arthritis, Hypersensitivity Responses, and Protection from Bacterial Infection | Immunity | 2002 | 827 |
| 11 | Gateways to the FANTOM5 promoter level mammalian expression atlas | Genome Biology | 2015 | 687 |
| 12 | SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma | Science | 2009 | 682 |
| 13 | A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy | Science | 2010 | 638 |
| 14 | Inflammasome is a central player in the induction of obesity and insulin resistance | Proceedings of the National Academy of Sciences of the United States of America | 2011 | 602 |
| 15 | Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 | Nature Genetics | 2012 | 582 |
| 16 | Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA | Nature Communications | 2016 | 576 |
| 17 | Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule | Muscle and Nerve | 2006 | 569 |
| 18 | The Inflammasome-Mediated Caspase-1 Activation Controls Adipocyte Differentiation and Insulin Sensitivity | Cell Metabolism | 2010 | 558 |
| 19 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer | Nature Genetics | 2015 | 513 |
| 20 | The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations | Human Mutation | 2015 | 507 |
| 21 | The Beaker phenomenon and the genomic transformation of northwest Europe | Nature | 2018 | 503 |
| 22 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 493 |
| 23 | An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity | Nature Medicine | 2019 | 486 |
| 24 | Expression of CD44 in Apc and TcfMutant Mice Implies Regulation by the WNT Pathway | American Journal of Pathology | 1999 | 468 |
| 25 | Duchenne muscular dystrophy | Nature Reviews Disease Primers | 2021 | 448 |
| 26 | The shieldin complex mediates 53BP1-dependent DNA repair | Nature | 2018 | 445 |
| 27 | Polycystic kidney disease | Nature Reviews Disease Primers | 2018 | 435 |
| 28 | Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk | Nature Genetics | 2017 | 426 |
| 29 | 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 |
| 30 | BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients | Nature Genetics | 1997 | 414 |
| 31 | Dectin-2 is a Syk-coupled pattern recognition receptor crucial for Th17 responses to fungal infection | Journal of Experimental Medicine | 2009 | 411 |
| 32 | Conjunction dysfunction: CBP/p300 in human disease | Trends in Genetics | 1998 | 404 |
| 33 | Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure | Nature Genetics | 2011 | 403 |
| 34 | Butyrate reduces appetite and activates brown adipose tissue via the gut-brain neural circuit | Gut | 2018 | 401 |
| 35 | Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene | PLoS Genetics | 2010 | 394 |
| 36 | Disease variants alter transcription factor levels and methylation of their binding sites | Nature Genetics | 2017 | 390 |
| 37 | Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer | New England Journal of Medicine | 1998 | 386 |
| 38 | DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy | Developmental Cell | 2012 | 384 |
| 39 | Genome-wide patterns and properties of de novo mutations in humans | Nature Genetics | 2015 | 384 |
| 40 | Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker | Human Mutation | 2008 | 383 |
| 41 | Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter | Nature Genetics | 2001 | 379 |
| 42 | Genome-wide association studies identify four ER negative–specific breast cancer risk loci | Nature Genetics | 2013 | 374 |
| 43 | C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy | Nature Genetics | 2007 | 366 |
| 44 | Identification of context-dependent expression quantitative trait loci in whole blood | Nature Genetics | 2017 | 363 |
| 45 | Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis | American Journal of Human Genetics | 2007 | 360 |
| 46 | Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair | Nature Genetics | 2015 | 357 |
| 47 | Genome-wide association study reveals three susceptibility loci for common migraine in the general population | Nature Genetics | 2011 | 355 |
| 48 | Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy | Nature Genetics | 2003 | 349 |
| 49 | De novo mutations in ATP1A3 cause alternating hemiplegia of childhood | Nature Genetics | 2012 | 345 |
| 50 | Genome-wide meta-analysis identifies new susceptibility loci for migraine | Nature Genetics | 2013 | 338 |
