| # | Title | Journal | Year | Citations |
|---|
| 1 | Mesenchymal stem cells within tumour stroma promote breast cancer metastasis | Nature | 2007 | 2,874 |
| 2 | Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis | Cell | 1990 | 1,697 |
| 3 | Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive | Nature | 1992 | 1,193 |
| 4 | Regulation of Fibroblast Growth Factor-23 Signaling by Klotho | Journal of Biological Chemistry | 2006 | 1,174 |
| 5 | CXCL12 (SDF-1)/CXCR4 Pathway in Cancer | Clinical Cancer Research | 2010 | 1,159 |
| 6 | Demonstration that CFTR is a chloride channel by alteration of its anion selectivity | Science | 1991 | 1,103 |
| 7 | Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis | New England Journal of Medicine | 2012 | 1,082 |
| 8 | Production of goats by somatic cell nuclear transfer | Nature Biotechnology | 1999 | 929 |
| 9 | Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial | Lancet, The | 2010 | 813 |
| 10 | The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States | New England Journal of Medicine | 2003 | 722 |
| 11 | Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel | Cell | 1991 | 651 |
| 12 | Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells | Nature | 1990 | 649 |
| 13 | Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis | Neuron | 2012 | 635 |
| 14 | Outcomes of Patients with Differentiated Thyroid Carcinoma Following Initial Therapy | Thyroid | 2006 | 593 |
| 15 | Generation of cAMP-activated chloride currents by expression of CFTR | Science | 1991 | 579 |
| 16 | Protection from Obesity and Diabetes by Blockade of TGF-β/Smad3 Signaling | Cell Metabolism | 2011 | 556 |
| 17 | Transforming Growth Factor-β Production and Myeloid Cells Are an Effector Mechanism through Which CD1d-restricted T Cells Block Cytotoxic T Lymphocyte–mediated Tumor Immunosurveillance | Journal of Experimental Medicine | 2003 | 508 |
| 18 | Effects of sevelamer and calcium-based phosphate binders on mortality in hemodialysis patients | Kidney International | 2007 | 454 |
| 19 | Detailed Analysis of Structures and Formulations of Cationic Lipids for Efficient Gene Transfer to the Lung | Human Gene Therapy | 1996 | 453 |
| 20 | Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry | Molecular Genetics and Metabolism | 2008 | 442 |
| 21 | Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy | Science Translational Medicine | 2011 | 437 |
| 22 | Targeting nuclear RNA for in vivo correction of myotonic dystrophy | Nature | 2012 | 435 |
| 23 | LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase | Cell | 2007 | 428 |
| 24 | Cationic lipid-mediated CFTR gene transfer to the lungs and nose of patients with cystic fibrosis: a double-blind placebo-controlled trial | Lancet, The | 1999 | 425 |
| 25 | Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons | Proceedings of the National Academy of Sciences of the United States of America | 1999 | 412 |
| 26 | DHODH modulates transcriptional elongation in the neural crest and melanoma | Nature | 2011 | 411 |
| 27 | PEGylation of Adenovirus with Retention of Infectivity and Protection from Neutralizing Antibody in Vitro and in Vivo | Human Gene Therapy | 1999 | 390 |
| 28 | A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies | American Journal of Human Genetics | 2001 | 350 |
| 29 | Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling | Cell | 2012 | 347 |
| 30 | A RANDOMIZED, DOUBLE-BLINDED COMPARISON OF THYMOGLOBULIN VERSUS ATGAM FOR INDUCTION IMMUNOSUPPRESSIVE THERAPY IN ADULT RENAL TRANSPLANT RECIPIENTS1,2 | Transplantation | 1999 | 341 |
| 31 | Comparative Physical Properties of Hyaluronic Acid Dermal Fillers | Dermatologic Surgery | 2009 | 338 |
| 32 | Expression and characterization of the cystic fibrosis transmembrane conductance regulator | Nature | 1990 | 337 |
| 33 | Phase I Study of GC1008 (Fresolimumab): A Human Anti-Transforming Growth Factor-Beta (TGFβ) Monoclonal Antibody in Patients with Advanced Malignant Melanoma or Renal Cell Carcinoma | PLoS ONE | 2014 | 328 |
| 34 | Homonuclear radio frequency-driven recoupling in rotating solids | Journal of Chemical Physics | 1998 | 326 |
| 35 | Physiological degradation converts the soluble syndecan-1 ectodomain from an inhibitor to a potent activator of FGF-2 | Nature Medicine | 1998 | 322 |
| 36 | A Risk Prediction Model for Delayed Graft Function in the Current Era of Deceased Donor Renal Transplantation | American Journal of Transplantation | 2010 | 322 |
| 37 | Clinical research for rare disease: Opportunities, challenges, and solutions | Molecular Genetics and Metabolism | 2009 | 320 |
| 38 | Antibody to transforming growth factor-β ameliorates tubular apoptosis in unilateral ureteral obstruction | Kidney International | 2000 | 303 |
| 39 | Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I | Pediatrics | 2009 | 301 |
| 40 | Efficacy and Safety of Dupilumab in Adolescents With Uncontrolled Moderate to Severe Atopic Dermatitis | JAMA Dermatology | 2020 | 297 |
| 41 | Investigation of the mechanism of action of alemtuzumab in a human CD52 transgenic mouse model | Immunology | 2009 | 294 |
| 42 | Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy | Kidney International | 2002 | 291 |
| 43 | The Emerging Infectious Challenge of Clostridium difficile-Associated Disease in Massachusetts Hospitals: Clinical and Economic Consequences | Infection Control and Hospital Epidemiology | 2007 | 288 |
| 44 | Conjunctivitis in dupilumab clinical trials | British Journal of Dermatology | 2019 | 288 |
| 45 | Intestinal Npt2b Plays a Major Role in Phosphate Absorption and Homeostasis | Journal of the American Society of Nephrology: JASN | 2009 | 285 |
| 46 | Rapid mobilization of functional donor hematopoietic cells without G-CSF using AMD3100, an antagonist of the CXCR4/SDF-1 interaction | Blood | 2008 | 282 |
| 47 | CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy | Proceedings of the National Academy of Sciences of the United States of America | 2011 | 282 |
| 48 | Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease | Pediatric Research | 2009 | 277 |
| 49 | Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing | Annals of Neurology | 2011 | 276 |
| 50 | Immunizing Patients With Metastatic Melanoma Using Recombinant Adenoviruses Encoding MART-1 or gp100 Melanoma Antigens | Journal of the National Cancer Institute | 1998 | 274 |
