| # | Title | Journal | Year | Citations |
|---|
| 1 | Inferring weak population structure with the assistance of sample group information | Molecular Ecology Resources | 2009 | 2,931 |
| 2 | Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas | Science | 1989 | 1,945 |
| 3 | Molecular basis of human hypertension: Role of angiotensinogen | Cell | 1992 | 1,747 |
| 4 | Geometric cues for directing the differentiation of mesenchymal stem cells | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 1,598 |
| 5 | MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia | Cell | 1999 | 1,305 |
| 6 | Allelotype of colorectal carcinomas | Science | 1989 | 1,192 |
| 7 | Spectrum of Mutations in Long-QT Syndrome Genes | Circulation | 2000 | 1,157 |
| 8 | Bmi1 is expressed in vivo in intestinal stem cells | Nature Genetics | 2008 | 1,083 |
| 9 | Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus | Cell | 1990 | 1,052 |
| 10 | Microarray Identification of FMRP-Associated Brain mRNAs and Altered mRNA Translational Profiles in Fragile X Syndrome | Cell | 2001 | 1,033 |
| 11 | Selective chemical labeling reveals the genome-wide distribution of 5-hydroxymethylcytosine | Nature Biotechnology | 2011 | 955 |
| 12 | Functional activity of myogenic HLH proteins requires hetero-oligomerization with E12/E47-like proteins in vivo | Cell | 1991 | 850 |
| 13 | Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5 | Nature | 1991 | 835 |
| 14 | Defective Angiogenesis in Mice Lacking Endoglin | Science | 1999 | 791 |
| 15 | Sustained in vitro intestinal epithelial culture within a Wnt-dependent stem cell niche | Nature Medicine | 2009 | 760 |
| 16 | Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17 | Science | 1987 | 687 |
| 17 | The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae | Cell | 1990 | 684 |
| 18 | The intestinal stem cell markers Bmi1 and Lgr5 identify two functionally distinct populations | Proceedings of the National Academy of Sciences of the United States of America | 2012 | 683 |
| 19 | The gene for familial polyposis coli maps to the long arm of chromosome 5 | Science | 1987 | 666 |
| 20 | Gene targeting in mice: functional analysis of the mammalian genome for the twenty-first century | Nature Reviews Genetics | 2005 | 632 |
| 21 | Using Environmental Correlations to Identify Loci Underlying Local Adaptation | Genetics | 2010 | 624 |
| 22 | Alleles of the APC gene: An attenuated form of familial polyposis | Cell | 1993 | 611 |
| 23 | Vectors for Drosophila P-element-mediated transformation and tissue culture transfection | Gene | 1988 | 599 |
| 24 | Absence of radius and ulna in mice lacking hoxa-11 andhoxd-11 | Nature | 1995 | 569 |
| 25 | Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3 | Nature | 1990 | 567 |
| 26 | Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox geneHox-#150;1.6 | Nature | 1992 | 518 |
| 27 | Nuclear receptors — a perspective from Drosophila | Nature Reviews Genetics | 2005 | 501 |
| 28 | Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif | Science | 1990 | 488 |
| 29 | LINE-1 Elements in Structural Variation and Disease | Annual Review of Genomics and Human Genetics | 2011 | 471 |
| 30 | A molecular variant of angiotensinogen associated with preeclampsia | Nature Genetics | 1993 | 466 |
| 31 | A Decade of Molecular Studies of Fragile X Syndrome | Annual Review of Neuroscience | 2002 | 447 |
| 32 | Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans | Science | 2005 | 447 |
| 33 | Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens | Science | 2005 | 445 |
| 34 | Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. | Proceedings of the National Academy of Sciences of the United States of America | 1996 | 440 |
| 35 | Systematic Comparison of Constitutive Promoters and the Doxycycline-Inducible Promoter | PLoS ONE | 2010 | 413 |
| 36 | Adaptation – not by sweeps alone | Nature Reviews Genetics | 2010 | 410 |
| 37 | Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear | Development (Cambridge) | 1993 | 410 |
| 38 | Accelerated Evolution of Nervous System Genes in the Origin of Homo sapiens | Cell | 2004 | 404 |
| 39 | Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients | Cell | 1990 | 391 |
| 40 | The role of Hoxa-3 in mouse thymus and thyroid development | Development (Cambridge) | 1995 | 383 |
| 41 | Hematopoietic Origin of Pathological Grooming in Hoxb8 Mutant Mice | Cell | 2010 | 378 |
| 42 | Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension | Nature Genetics | 1992 | 376 |
| 43 | Steroid regulated programmed cell death during Drosophila metamorphosis | Development (Cambridge) | 1997 | 344 |
| 44 | Hoxb8 Is Required for Normal Grooming Behavior in Mice | Neuron | 2002 | 340 |
| 45 | Recoding: Dynamic Reprogramming of Translation | Annual Review of Biochemistry | 1996 | 335 |
| 46 | Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase | Nature Genetics | 1992 | 325 |
| 47 | Genomic Organization of the HumanSCN5AGene Encoding the Cardiac Sodium Channel | Genomics | 1996 | 312 |
| 48 | AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome | Development (Cambridge) | 2002 | 312 |
| 49 | Math5 encodes a murine basic helix-loop-helix transcription factor expressed during early stages of retinal neurogenesis | Development (Cambridge) | 1998 | 308 |
| 50 | Capillary gel electrophoresis for rapid, high resolution DNA sequencing | Nucleic Acids Research | 1990 | 305 |
