| # | Title | Journal | Year | Citations |
|---|
| 1 | Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease | Nature | 2012 | 4,038 |
| 2 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | Nature Genetics | 2010 | 2,284 |
| 3 | Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management | Lancet Neurology, The | 2010 | 1,605 |
| 4 | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 | Nature Genetics | 2011 | 1,201 |
| 5 | Detecting gene–gene interactions that underlie human diseases | Nature Reviews Genetics | 2009 | 1,177 |
| 6 | Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care | Lancet Neurology, The | 2010 | 975 |
| 7 | Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease | Nature Genetics | 2017 | 943 |
| 8 | Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study | Lancet, The | 2011 | 803 |
| 9 | Extracellular control of TGFβ signalling in vascular development and disease | Nature Reviews Molecular Cell Biology | 2007 | 708 |
| 10 | A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome | Nature Genetics | 2003 | 699 |
| 11 | Sox9 induces testis development in XX transgenic mice | Nature Genetics | 2001 | 619 |
| 12 | Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study | Lancet Neurology, The | 2009 | 617 |
| 13 | Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study | Lancet, The | 2016 | 607 |
| 14 | Endoglin promotes endothelial cell proliferation and TGF-β/ALK1 signal transduction | EMBO Journal | 2004 | 592 |
| 15 | Aberrant and Alternative Splicing in Cancer | Cancer Research | 2004 | 582 |
| 16 | Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse | Current Biology | 2003 | 552 |
| 17 | Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates | Nature Genetics | 2005 | 536 |
| 18 | Pathogenic Mitochondrial DNA Mutations Are Common in the General Population | American Journal of Human Genetics | 2008 | 534 |
| 19 | Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance | Cell | 2010 | 515 |
| 20 | In Vitro-Differentiated Embryonic Stem Cells Give Rise to Male Gametes that Can Generate Offspring Mice | Developmental Cell | 2006 | 479 |
| 21 | Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 | Nature Genetics | 2008 | 460 |
| 22 | Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis | Nature Genetics | 2011 | 441 |
| 23 | Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy | Journal of Allergy and Clinical Immunology | 2011 | 424 |
| 24 | A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration | Nature Genetics | 2006 | 421 |
| 25 | The Codon 620 Tryptophan Allele of the Lymphoid Tyrosine Phosphatase (LYP) Gene Is a Major Determinant of Graves’ Disease | Journal of Clinical Endocrinology and Metabolism | 2004 | 416 |
| 26 | Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population | Brain | 2009 | 414 |
| 27 | A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy | Annals of Neurology | 2008 | 407 |
| 28 | Telomerase does not counteract telomere shortening but protects mitochondrial function under oxidative stress | Journal of Cell Science | 2008 | 399 |
| 29 | Diagnosis and management of vitamin D deficiency | BMJ: British Medical Journal | 2010 | 398 |
| 30 | An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes | Science | 2005 | 390 |
| 31 | Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome | Proceedings of the National Academy of Sciences of the United States of America | 2003 | 388 |
| 32 | Collagen VI related muscle disorders | Journal of Medical Genetics | 2005 | 383 |
| 33 | Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease | Journal of Allergy and Clinical Immunology | 2009 | 374 |
| 34 | Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome | Blood | 2008 | 355 |
| 35 | Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression | PLoS Genetics | 2010 | 331 |
| 36 | Prevalence and Relative Risk of Other Autoimmune Diseases in Subjects with Autoimmune Thyroid Disease | American Journal of Medicine | 2010 | 331 |
| 37 | Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome | Blood | 2010 | 330 |
| 38 | Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients | EMBO Journal | 2010 | 326 |
| 39 | Mutations in Complement Factor I Predispose to Development of Atypical Hemolytic Uremic Syndrome | Journal of the American Society of Nephrology: JASN | 2005 | 312 |
| 40 | Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia | Nature Medicine | 2010 | 312 |
| 41 | CD19 is essential for B cell activation by promoting B cell receptor–antigen microcluster formation in response to membrane-bound ligand | Nature Immunology | 2008 | 310 |
| 42 | The H9C2 cell line and primary neonatal cardiomyocyte cells show similar hypertrophic responses in vitro | In Vitro Cellular and Developmental Biology - Animal | 2011 | 305 |
| 43 | Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome | PLoS Genetics | 2007 | 285 |
| 44 | Unbalanced alternative splicing and its significance in cancer | BioEssays | 2006 | 278 |
| 45 | Efficient Hematopoietic Differentiation of Human Embryonic Stem Cells on Stromal Cells Derived from Hematopoietic Niches | Cell Stem Cell | 2008 | 276 |
| 46 | Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome | New England Journal of Medicine | 2008 | 273 |
| 47 | Human Induced Pluripotent Stem Cell Lines Show Stress Defense Mechanisms and Mitochondrial Regulation Similar to Those of Human Embryonic Stem Cells | Stem Cells | 2010 | 265 |
| 48 | WDR62 is associated with the spindle pole and is mutated in human microcephaly | Nature Genetics | 2010 | 255 |
| 49 | A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy | Brain | 2011 | 254 |
| 50 | Stress Defense in Murine Embryonic Stem Cells Is Superior to That of Various Differentiated Murine Cells | Stem Cells | 2004 | 253 |
