| # | Title | Journal | Year | Citations |
|---|
| 1 | High resolution of human evolutionary trees with polymorphic microsatellites | Nature | 1994 | 1,700 |
| 2 | Comparing protein abundance and mRNA expression levels on a genomic scale | Genome Biology | 2003 | 1,453 |
| 3 | A comparative encyclopedia of DNA elements in the mouse genome | Nature | 2014 | 1,444 |
| 4 | The crystal structure of the bacterial chaperonln GroEL at 2.8 Å | Nature | 1994 | 1,363 |
| 5 | Mutation detection and single-molecule counting using isothermal rolling-circle amplification | Nature Genetics | 1998 | 1,273 |
| 6 | Expanded encyclopaedias of DNA elements in the human and mouse genomes | Nature | 2020 | 1,252 |
| 7 | Recovering Gene Interactions from Single-Cell Data Using Data Diffusion | Cell | 2018 | 1,197 |
| 8 | Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma | Nature Genetics | 2012 | 1,052 |
| 9 | Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes | Nature Genetics | 2002 | 784 |
| 10 | Interchromosomal associations between alternatively expressed loci | Nature | 2005 | 647 |
| 11 | A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis | Nature | 2002 | 618 |
| 12 | Visualizing structure and transitions in high-dimensional biological data | Nature Biotechnology | 2019 | 597 |
| 13 | The contributions of sex, genotype and age to transcriptional variance in Drosophila melanogaster | Nature Genetics | 2001 | 595 |
| 14 | Immunoassays with rolling circle DNA amplification: A versatile platform for ultrasensitive antigen detection | Proceedings of the National Academy of Sciences of the United States of America | 2000 | 554 |
| 15 | A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC) | Science | 1994 | 550 |
| 16 | Spectral Biclustering of Microarray Data: Coclustering Genes and Conditions | Genome Research | 2003 | 536 |
| 17 | The Transgenic RNAi Project at Harvard Medical School: Resources and Validation | Genetics | 2015 | 502 |
| 18 | Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome | Nature Genetics | 1994 | 476 |
| 19 | Distinct Lineage Specification Roles for NANOG, OCT4, and SOX2 in Human Embryonic Stem Cells | Cell Stem Cell | 2012 | 456 |
| 20 | Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation | Nature Genetics | 2014 | 417 |
| 21 | Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma | Proceedings of the National Academy of Sciences of the United States of America | 2011 | 405 |
| 22 | Nanog, Pou5f1 and SoxB1 activate zygotic gene expression during the maternal-to-zygotic transition | Nature | 2013 | 399 |
| 23 | Distinct actions of cis and trans ATP within the double ring of the chaperonin GroEL | Nature | 1997 | 392 |
| 24 | The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus | American Journal of Human Genetics | 2004 | 376 |
| 25 | GroEL-mediated protein folding proceeds by multiple rounds of binding and release of nonnative forms | Cell | 1994 | 375 |
| 26 | chickadee encodes a profilin required for intercellular cytoplasm transport during Drosophila oogenesis | Cell | 1992 | 369 |
| 27 | An international two–stage genome–wide search for schizophrenia susceptibility genes | Nature Genetics | 1995 | 368 |
| 28 | Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles | Biological Psychiatry | 1999 | 346 |
| 29 | Early Assessment of Lung Cancer Immunotherapy Response via Circulating Tumor DNA | Clinical Cancer Research | 2018 | 319 |
| 30 | A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome | Nature Genetics | 2001 | 314 |
| 31 | Expression profiling in primates reveals a rapid evolution of human transcription factors | Nature | 2006 | 283 |
| 32 | Radiation-mediated proteolysis of CDT1 by CUL4–ROC1 and CSN complexes constitutes a new checkpoint | Nature Cell Biology | 2003 | 281 |
| 33 | Human mtDNA and Y-chromosome variation is correlated with matrilocal versus patrilocal residence | Nature Genetics | 2001 | 275 |
| 34 | Supertasting and PROP Bitterness Depends on More Than the TAS2R38 Gene | Chemical Senses | 2008 | 263 |
| 35 | Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster | Nature Genetics | 2011 | 260 |
| 36 | A C. elegans Piwi, PRG-1, Regulates 21U-RNAs during Spermatogenesis | Current Biology | 2008 | 259 |
| 37 | A Genome-Scale Resource for In Vivo Tag-Based Protein Function Exploration in C. elegans | Cell | 2012 | 253 |
| 38 | The Genetic Structure of Pacific Islanders | PLoS Genetics | 2008 | 251 |
| 39 | Antisense Oligonucleotides: An Emerging Area in Drug Discovery and Development | Journal of Clinical Medicine | 2020 | 239 |
| 40 | Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation | Pediatrics | 2008 | 233 |
| 41 | Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant | Annals of Human Genetics | 2009 | 232 |
| 42 | CRISPR-Cpf1 mediates efficient homology-directed repair and temperature-controlled genome editing | Nature Communications | 2017 | 232 |
| 43 | Intelligence, race, and genetics. | American Psychologist | 2005 | 225 |
| 44 | Diverse transcription factor binding features revealed by genome-wide ChIP-seq in C. elegans | Genome Research | 2011 | 224 |
| 45 | Exploring single-cell data with deep multitasking neural networks | Nature Methods | 2019 | 222 |
| 46 | Conformational variability in the refined structure of the chaperonin GroEL at 2.8 Å resolution | Nature Structural and Molecular Biology | 1995 | 219 |
| 47 | A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region | Human Molecular Genetics | 1997 | 217 |
| 48 | Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53 | EMBO Journal | 2011 | 216 |
| 49 | MicroRNA-30c inhibits human breast tumour chemotherapy resistance by regulating TWF1 and IL-11 | Nature Communications | 2013 | 209 |
| 50 | Global position analysis of the Pseudomonas aeruginosa quorum‐sensing transcription factor LasR | Molecular Microbiology | 2009 | 207 |
