| # | Title | Journal | Year | Citations |
|---|
| 1 | High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number | Analytical Chemistry | 2011 | 2,175 |
| 2 | STROCSS 2021: Strengthening the reporting of cohort, cross-sectional and case-control studies in surgery | International Journal of Surgery | 2021 | 938 |
| 3 | Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders | Blood | 2005 | 798 |
| 4 | Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function | Nature | 1997 | 697 |
| 5 | Response to Imatinib Mesylate in Patients with Chronic Myeloproliferative Diseases with Rearrangements of the Platelet-Derived Growth Factor Receptor Beta | New England Journal of Medicine | 2002 | 623 |
| 6 | Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy | Nature Genetics | 1998 | 499 |
| 7 | Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 | Nature Genetics | 2008 | 460 |
| 8 | Biology of tendon injury: healing, modeling and remodeling | Journal of Musculoskeletal Neuronal Interactions | 2006 | 454 |
| 9 | Prognosis After Anastomotic Leakage in Colorectal Surgery | Diseases of the Colon and Rectum | 2005 | 377 |
| 10 | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities | Genetics in Medicine | 2011 | 371 |
| 11 | Recurrent SETBP1 mutations in atypical chronic myeloid leukemia | Nature Genetics | 2013 | 359 |
| 12 | Inflammatory bowel disease and domestic hygiene in infancy | Lancet, The | 1994 | 343 |
| 13 | Revised U.K. guidelines for the management of cutaneous melanoma 2010 | British Journal of Dermatology | 2010 | 343 |
| 14 | Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood | Diabetes | 2007 | 320 |
| 15 | Optical properties of human skin | Journal of Biomedical Optics | 2012 | 314 |
| 16 | Age- and tissue-specific variation of X chromosome inactivation ratios in normal women | Human Genetics | 2000 | 309 |
| 17 | The effects of common peroneal stimulation on the effort and speed of walking: a randomized controlled trial with chronic hemiplegic patients | Clinical Rehabilitation | 1997 | 301 |
| 18 | Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders | Haematologica | 2012 | 254 |
| 19 | Clinical use of the odstock dropped foot stimulator: Its effect on the speed and effort of walking | Archives of Physical Medicine and Rehabilitation | 1999 | 246 |
| 20 | Imatinib for systemic mast-cell disease | Lancet, The | 2003 | 242 |
| 21 | Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study | Journal of Clinical Endocrinology and Metabolism | 2005 | 234 |
| 22 | Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study | Lancet Oncology, The | 2011 | 232 |
| 23 | 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome | American Journal of Human Genetics | 2005 | 228 |
| 24 | Theoretical and methodological considerations in the measurement of spasticity | Disability and Rehabilitation | 2005 | 206 |
| 25 | Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis | Nephrology Dialysis Transplantation | 2016 | 199 |
| 26 | Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations | American Journal of Human Genetics | 1997 | 198 |
| 27 | An imprinted locus associated with transient neonatal diabetes mellitus | Human Molecular Genetics | 2000 | 196 |
| 28 | Harmonization of molecular monitoring of CML therapy in Europe | Leukemia | 2009 | 196 |
| 29 | Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects | American Journal of Human Genetics | 2007 | 194 |
| 30 | The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders | American Journal of Medical Genetics Part A | 2001 | 193 |
| 31 | MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP | Cancer Cell | 2003 | 192 |
| 32 | The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial | Blood | 2013 | 190 |
| 33 | FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature | American Journal of Medical Genetics Part A | 1998 | 189 |
| 34 | Is the prevalence of Klinefelter syndrome increasing? | European Journal of Human Genetics | 2008 | 189 |
| 35 | Frequency of abdominal wall hernias: is classical teaching out of date? | JRSM Short Reports | 2011 | 189 |
| 36 | Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation | American Journal of Human Genetics | 2002 | 185 |
| 37 | A standardized framework for the validation and verification of clinical molecular genetic tests | European Journal of Human Genetics | 2010 | 176 |
| 38 | Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study | Lancet Oncology, The | 2008 | 174 |
| 39 | Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers | Journal of Medical Genetics | 2007 | 172 |
| 40 | Myeloproliferative Disorders with Translocations of Chromosome 5q31–35: Role of the Platelet-Derived Growth Factor Receptor Beta | Acta Haematologica | 2002 | 170 |
| 41 | X chromosome loss and ageing | Cytogenetic and Genome Research | 2007 | 163 |
| 42 | The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination | Human Molecular Genetics | 1994 | 162 |
| 43 | Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification | British Journal of Cancer | 2004 | 161 |
| 44 | Burn wound healing and skin substitutes | Burns | 2001 | 156 |
| 45 | Durable responses to imatinib in patients with PDGFRB fusion gene–positive and BCR-ABL–negative chronic myeloproliferative disorders | Blood | 2007 | 156 |
| 46 | Clinical and molecular stratification of disease risk in medulloblastoma | British Journal of Cancer | 2001 | 154 |
| 47 | SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development | Journal of Clinical Endocrinology and Metabolism | 2008 | 154 |
| 48 | Basic biology of tendon injury and healing | Journal of the Royal College of Surgeons of Edinburgh | 2005 | 153 |
| 49 | Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers | European Journal of Human Genetics | 2006 | 151 |
| 50 | Xp deletions associated with autism in three females | Human Genetics | 1999 | 150 |
