| # | Title | Journal | Year | Citations |
|---|
| 1 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,823 |
| 2 | Defining the role of common variation in the genomic and biological architecture of adult human height | Nature Genetics | 2014 | 1,818 |
| 3 | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 | Nature Genetics | 2011 | 1,201 |
| 4 | Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes | Nature Genetics | 2018 | 1,124 |
| 5 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk | Nature Genetics | 2013 | 960 |
| 6 | Mapping genomic loci implicates genes and synaptic biology in schizophrenia | Nature | 2022 | 929 |
| 7 | Multiple common variants for celiac disease influencing immune gene expression | Nature Genetics | 2010 | 871 |
| 8 | Sequential cancer mutations in cultured human intestinal stem cells | Nature | 2015 | 853 |
| 9 | Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome | Nature | 2010 | 672 |
| 10 | Identification of common variants associated with human hippocampal and intracranial volumes | Nature Genetics | 2012 | 594 |
| 11 | MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans | Nature Genetics | 2000 | 518 |
| 12 | Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis | Nature Genetics | 2016 | 494 |
| 13 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 493 |
| 14 | Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germlineCDH1mutation carriers | Journal of Medical Genetics | 2015 | 479 |
| 15 | Detecting shared pathogenesis from the shared genetics of immune-related diseases | Nature Reviews Genetics | 2009 | 475 |
| 16 | Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk: A Meta-Analysis of 218,166 Adults and 19,268 Children | PLoS Medicine | 2011 | 446 |
| 17 | Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies | Brain | 2010 | 406 |
| 18 | Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer | JAMA - Journal of the American Medical Association | 2015 | 390 |
| 19 | Genome-wide patterns and properties of de novo mutations in humans | Nature Genetics | 2015 | 384 |
| 20 | Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders | PLoS Genetics | 2012 | 358 |
| 21 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer | Nature Genetics | 2017 | 356 |
| 22 | Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus | Nature Genetics | 2010 | 351 |
| 23 | Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis | Journal of Biological Chemistry | 2003 | 333 |
| 24 | The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study | PLoS Genetics | 2015 | 331 |
| 25 | The Relationship of DNA Methylation with Age, Gender and Genotype in Twins and Healthy Controls | PLoS ONE | 2009 | 311 |
| 26 | Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling | Nature Genetics | 2014 | 311 |
| 27 | A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population | Nature Genetics | 2010 | 309 |
| 28 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | Nature Genetics | 2017 | 289 |
| 29 | Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients | Blood | 2010 | 286 |
| 30 | A genome-wide association study of anorexia nervosa | Molecular Psychiatry | 2014 | 282 |
| 31 | Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization | Nature Genetics | 2014 | 281 |
| 32 | Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR | Nature Genetics | 2004 | 272 |
| 33 | Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline† | Human Molecular Genetics | 2011 | 268 |
| 34 | Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension | Nature Genetics | 2016 | 261 |
| 35 | Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients | American Journal of Human Genetics | 2008 | 248 |
| 36 | The Genome of the Netherlands: design, and project goals | European Journal of Human Genetics | 2014 | 246 |
| 37 | Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk | PLoS Genetics | 2013 | 244 |
| 38 | Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture | PLoS Genetics | 2013 | 241 |
| 39 | Genetic, environmental, and epigenetic factors involved in CAKUT | Nature Reviews Nephrology | 2015 | 240 |
| 40 | A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q | American Journal of Human Genetics | 2003 | 239 |
| 41 | Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci | American Journal of Human Genetics | 2012 | 239 |
| 42 | Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk | Nature Genetics | 2015 | 235 |
| 43 | Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping | Nature Biotechnology | 2014 | 231 |
| 44 | Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling | American Journal of Human Genetics | 2015 | 230 |
| 45 | De novo variants in neurodevelopmental disorders with epilepsy | Nature Genetics | 2018 | 230 |
| 46 | Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP | American Journal of Human Genetics | 2008 | 229 |
| 47 | Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci | American Journal of Human Genetics | 2012 | 227 |
| 48 | Genetic analysis of von Hippel-Lindau disease | Human Mutation | 2010 | 224 |
| 49 | Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1 | Nature Communications | 2015 | 220 |
| 50 | Mutations in the pre-replication complex cause Meier-Gorlin syndrome | Nature Genetics | 2011 | 219 |
