| Genome-wide association studies: theoretical and practical concerns | Nature Reviews Genetics | 2005 | 881 |
| Rett syndrome: revised diagnostic criteria and nomenclature | Annals of Neurology | 2010 | 804 |
| The Human Phenotype Ontology in 2017 | Nucleic Acids Research | 2017 | 507 |
| Time-dependent rates of molecular evolution | Molecular Ecology | 2011 | 383 |
| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing | Science Translational Medicine | 2017 | 338 |
| What's killing American honey bees? | PLoS Biology | 2007 | 326 |
| Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma | Cancer Cell | 2016 | 324 |
| DNA Methylation Analysis: Choosing the Right Method | Biology | 2016 | 323 |
| Many parallel losses of infA from chloroplast DNA during angiosperm evolution with multiple independent transfers to the nucleus | Plant Cell | 2001 | 321 |
| Ataluren treatment of patients with nonsense mutation dystrophinopathy | Muscle and Nerve | 2014 | 281 |
| Genetic diversity promotes homeostasis in insect colonies | Trends in Ecology and Evolution | 2007 | 258 |
| Tracing the origin and history of the HIV-2 epidemic | Proceedings of the National Academy of Sciences of the United States of America | 2003 | 254 |
| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome | Nature Genetics | 2010 | 250 |
| Inclusive fitness theory and eusociality | Nature | 2011 | 242 |
| A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies | Nature Genetics | 1994 | 238 |
| Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction | Circulation | 2009 | 233 |
| Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis | Proceedings of the National Academy of Sciences of the United States of America | 1998 | 233 |
| miR-195 and miR-483-5p Identified as Predictors of Poor Prognosis in Adrenocortical Cancer | Clinical Cancer Research | 2009 | 206 |
| Dietary sialic acid supplementation improves learning and memory in piglets | American Journal of Clinical Nutrition | 2007 | 203 |
| Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients | American Journal of Surgical Pathology | 2014 | 202 |
| Nature versus nurture in social insect caste differentiation | Trends in Ecology and Evolution | 2010 | 195 |
| Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific | Molecular Biology and Evolution | 2006 | 195 |
| Quantitative trait loci mapping in dairy cattle: review and meta-analysis | Genetics Selection Evolution | 2004 | 188 |
| Tactile discrimination, but not tactile stimulation alone, reduces chronic limb pain | Pain | 2008 | 182 |
| Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types | American Journal of Surgical Pathology | 2010 | 181 |
