| HGVS Recommendations for the Description of Sequence Variants: 2016 Update | Human Mutation | 2016 | 792 |
| REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants | American Journal of Human Genetics | 2016 | 722 |
| Genotype Imputation with Millions of Reference Samples | American Journal of Human Genetics | 2016 | 612 |
| dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs | Human Mutation | 2016 | 585 |
| DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis | American Journal of Human Genetics | 2016 | 489 |
| TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data | Human Mutation | 2016 | 416 |
| The hnRNP family: insights into their role in health and disease | Human Genetics | 2016 | 409 |
| Colocalization of GWAS and eQTL Signals Detects Target Genes | American Journal of Human Genetics | 2016 | 311 |
| Advancements in Next-Generation Sequencing | Annual Review of Genomics and Human Genetics | 2016 | 305 |
| The biology of circulating tumor cells | Oncogene | 2016 | 295 |
| Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes | Oncogene | 2016 | 293 |
| ASCT2/SLC1A5 controls glutamine uptake and tumour growth in triple-negative basal-like breast cancer | Oncogene | 2016 | 290 |
| CTCF and Cohesin in Genome Folding and Transcriptional Gene Regulation | Annual Review of Genomics and Human Genetics | 2016 | 290 |
| LncRNA HOTAIR enhances ER signaling and confers tamoxifen resistance in breast cancer | Oncogene | 2016 | 285 |
| Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium | American Journal of Human Genetics | 2016 | 271 |
| Guidelines for diagnostic next-generation sequencing | European Journal of Human Genetics | 2016 | 268 |
| Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss | Human Genetics | 2016 | 250 |
| Foxo3 activity promoted by non-coding effects of circular RNA and Foxo3 pseudogene in the inhibition of tumor growth and angiogenesis | Oncogene | 2016 | 244 |
| Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease | American Journal of Human Genetics | 2016 | 240 |
| CXCL12/CXCR4: a symbiotic bridge linking cancer cells and their stromal neighbors in oncogenic communication networks | Oncogene | 2016 | 237 |
| Targeting MET and AXL overcomes resistance to sunitinib therapy in renal cell carcinoma | Oncogene | 2016 | 230 |
| Upregulation of long noncoding RNA ZEB1-AS1 promotes tumor metastasis and predicts poor prognosis in hepatocellular carcinoma | Oncogene | 2016 | 228 |
| Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy | American Journal of Human Genetics | 2016 | 225 |
| Glutaminolysis as a target for cancer therapy | Oncogene | 2016 | 224 |
| Recent advances in RASopathies | Journal of Human Genetics | 2016 | 217 |
