| # | Title | Journal | Year | Citations |
|---|
| 1 | Epigenetic inheritance at the agouti locus in the mouse | Nature Genetics | 1999 | 1,308 |
| 2 | Nuclear organization of the genome and the potential for gene regulation | Nature | 2007 | 683 |
| 3 | Meta-analysis and imputation refines the association of 15q25 with smoking quantity | Nature Genetics | 2010 | 581 |
| 4 | The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis | Nature | 1997 | 579 |
| 5 | The role ofPax-6in eye and nasal development | Development (Cambridge) | 1995 | 578 |
| 6 | Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations | PLoS Genetics | 2009 | 572 |
| 7 | Genome-wide association studies establish that human intelligence is highly heritable and polygenic | Molecular Psychiatry | 2011 | 571 |
| 8 | Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B | Nature Genetics | 2004 | 541 |
| 9 | The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA | Cell Reports | 2014 | 508 |
| 10 | Chromatin Architecture of the Human Genome | Cell | 2004 | 452 |
| 11 | UK Medical Research Council randomised, multicentre trial of interferon-αn1 for chronic myeloid leukaemia: improved survival irrespective of cytogenetic response | Lancet, The | 1995 | 433 |
| 12 | New gene functions in megakaryopoiesis and platelet formation | Nature | 2011 | 401 |
| 13 | FTO genotype is associated with phenotypic variability of body mass index | Nature | 2012 | 383 |
| 14 | A new family of mouse homeo box-containing genes: molecular structure, chromosomal location, and developmental expression of Hox-7.1. | Genes and Development | 1989 | 376 |
| 15 | Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation | American Journal of Human Genetics | 2007 | 316 |
| 16 | Anophthalmia and microphthalmia | Orphanet Journal of Rare Diseases | 2007 | 310 |
| 17 | Re-modelling of nuclear architecture in quiescent and senescent human fibroblasts | Current Biology | 2000 | 291 |
| 18 | Identification of SATB2 as the cleft palate gene on 2q32-q33 | Human Molecular Genetics | 2003 | 248 |
| 19 | Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability | BMC Medical Genetics | 2006 | 227 |
| 20 | Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo | Development (Cambridge) | 2003 | 225 |
| 21 | Lagging-strand replication shapes the mutational landscape of the genome | Nature | 2015 | 213 |
| 22 | Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome | Human Molecular Genetics | 2006 | 202 |
| 23 | The European dimension for the mouse genome mutagenesis program | Nature Genetics | 2004 | 195 |
| 24 | SOX2 anophthalmia syndrome | American Journal of Medical Genetics, Part A | 2005 | 194 |
| 25 | Using ontologies to describe mouse phenotypes | Genome Biology | 2004 | 191 |
| 26 | Position-dependent expression of two related homeobox genes in developing vertebrate limbs | Nature | 1991 | 185 |
| 27 | Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations | PLoS Genetics | 2009 | 184 |
| 28 | Differential expression of microRNAs during melanoma progression: miR-200c, miR-205 and miR-211 are downregulated in melanoma and act as tumour suppressors | British Journal of Cancer | 2012 | 183 |
| 29 | The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci | Nature Cell Biology | 2004 | 179 |
| 30 | Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study | Lancet Oncology, The | 2008 | 174 |
| 31 | DAZ Family Proteins Exist Throughout Male Germ Cell Development and Transit from Nucleus to Cytoplasm at Meiosis in Humans and Mice1 | Biology of Reproduction | 2000 | 173 |
| 32 | Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility | Nature Genetics | 2001 | 173 |
| 33 | Comparative Performance of Four Methods for High-throughput Glycosylation Analysis of Immunoglobulin G in Genetic and Epidemiological Research | Molecular and Cellular Proteomics | 2014 | 169 |
| 34 | Optical projection tomography as a new tool for studying embryo anatomy | Journal of Anatomy | 2003 | 156 |
| 35 | Inclusion of cholesterol in DOTAP transfection complexes increases the delivery of DNA to cells in vitro in the presence of serum | Gene Therapy | 1998 | 155 |
| 36 | DNA repair endonuclease ERCC1-XPF as a novel therapeutic target to overcome chemoresistance in cancer therapy | Nucleic Acids Research | 2012 | 155 |
| 37 | No linkage of chromosome 5q11-q13 markers to schizophrenia in Scottish families | Nature | 1989 | 152 |
| 38 | P-Rex1 is required for efficient melanoblast migration and melanoma metastasis | Nature Communications | 2011 | 152 |
| 39 | Genome-wide methylation profiling in Crohnʼs disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway | Inflammatory Bowel Diseases | 2012 | 152 |
| 40 | Novel functional requirements for non-homologous DNA end joining in Schizosaccharomyces pombe | EMBO Journal | 2001 | 151 |
| 41 | Large meta-analysis of genome-wide association studies identifies five loci for lean body mass | Nature Communications | 2017 | 147 |
| 42 | One gene—four syndromes | Nature | 1994 | 146 |
| 43 | Disruption of PAX6 function in mice homozygous for the Pax6Sey-1Neu mutation produces abnormalities in the early development and regionalization of the diencephalon | Mechanisms of Development | 1997 | 144 |
| 44 | Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis | Journal of Investigative Dermatology | 2016 | 144 |
| 45 | Cardiac malformations and midline skeletal defects in mice lacking filamin A | Human Molecular Genetics | 2006 | 138 |
| 46 | New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8 | Human Molecular Genetics | 2010 | 136 |
| 47 | Assessment of biocompatibility of 3D printed photopolymers using zebrafish embryo toxicity assays | Lab on A Chip | 2016 | 135 |
| 48 | Different roles for Pax6 in the optic vesicle and facial epithelium mediate early morphogenesis of the murine eye | Development (Cambridge) | 2000 | 135 |
| 49 | Clonal analysis of patterns of growth, stem cell activity, and cell movement during the development and maintenance of the murine corneal epithelium | Developmental Dynamics | 2002 | 134 |
| 50 | Evidence for a new tumour suppressor locus (DBM) in human B–cell neoplasia telomeric to the retinoblastoma gene | Nature Genetics | 1993 | 132 |
