Published in Eur J Hum Genet on November 28, 2012
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
Life expectancy in hereditary cancer predisposing diseases: an observational study. J Med Genet (2012) 1.20
Gene therapy approaches for lysosomal storage disease: next-generation treatment. Hum Gene Ther (2012) 1.03
Morpholino-mediated increase in soluble Flt-1 expression results in decreased ocular and tumor neovascularization. PLoS One (2012) 1.00
Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. Hum Gene Ther Methods (2012) 0.97
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2. Eur J Hum Genet (2012) 0.87
Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease. Cochrane Database Syst Rev (2012) 0.86
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Everolimus-eluting versus paclitaxel-eluting stents in coronary artery disease. N Engl J Med (2010) 3.27
Comparison of an everolimus-eluting stent and a paclitaxel-eluting stent in patients with coronary artery disease: a randomized trial. JAMA (2008) 2.59
Time-domain fluorescence lifetime imaging applied to biological tissue. Photochem Photobiol Sci (2004) 1.75
A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
Randomized comparison of everolimus- and paclitaxel-eluting stents. 2-year follow-up from the SPIRIT (Clinical Evaluation of the XIENCE V Everolimus Eluting Coronary Stent System) IV trial. J Am Coll Cardiol (2011) 1.69
EGFR and KRAS mutational analysis and their correlation to survival in pancreatic and periampullary cancer. Pancreas (2012) 1.65
Iron overload in the Asian community. Blood (2009) 1.59
Amiodarone-induced thyrotoxicosis presenting as hypokalemic periodic paralysis. South Med J (2002) 1.49
Patients' and healthcare professionals' views on pharmacogenetic testing and its future delivery in the NHS. Pharmacogenomics (2007) 1.44
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Proteomic analysis of articular cartilage shows increased type II collagen synthesis in osteoarthritis and expression of inhibin betaA (activin A), a regulatory molecule for chondrocytes. J Biol Chem (2004) 1.39
Microbial biogeography of six salt lakes in Inner Mongolia, China, and a salt lake in Argentina. Appl Environ Microbiol (2009) 1.23
Growth factor-based therapies provide additional benefit beyond physical therapy in resistant elbow tendinopathy: a prospective, single-blind, randomised trial of autologous blood injections versus platelet-rich plasma injections. Br J Sports Med (2011) 1.21
Meta-analysis of everolimus-eluting versus paclitaxel-eluting stents in coronary artery disease: final 3-year results of the SPIRIT clinical trials program (Clinical Evaluation of the Xience V Everolimus Eluting Coronary Stent System in the Treatment of Patients With De Novo Native Coronary Artery Lesions). JACC Cardiovasc Interv (2013) 1.14
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. Eur J Hum Genet (2005) 1.13
Utility of eosinophil count as predictor of bacteremia. Clin Infect Dis (2004) 1.12
mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp Gerontol (2003) 1.09
Mydriasis and accommodative failure from exposure to topical glycopyrrolate used in hyperhidrosis. J Neuroophthalmol (2006) 1.09
RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. J Clin Pathol (2014) 1.07
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genet Test Mol Biomarkers (2009) 0.96
Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain. Eur J Hum Genet (2009) 0.95
Gastrointestinal stromal tumors: a case report and review of the literature. J La State Med Soc (2008) 0.94
Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia. Mol Cancer (2009) 0.93
Intravascular bullet embolism to the right atrium. J Forensic Sci (2010) 0.93
Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish. Hum Immunol (2004) 0.92
Toriello-Carey syndrome: delineation and review. Am J Med Genet A (2003) 0.91
Primary care-led commissioning: applying lessons from the past to the early development of clinical commissioning groups in England. Br J Gen Pract (2013) 0.90
BRCA1/2 mutation analysis in male breast cancer families from North West England. Fam Cancer (2007) 0.90
Allele and genotype frequencies of the polymorphic cytochrome P450 genes (CYP1A1, CYP3A4, CYP3A5, CYP2C9 and CYP2C19) in the Jordanian population. Mol Biol Rep (2012) 0.89
Pharmacogenetics education in British medical schools. Genomic Med (2009) 0.88
Plasma cell cerebrospinal fluid pleocytosis does not predict West Nile virus infection. J Biomed Biotechnol (2011) 0.87
Chiari I malformation without hydrocephalus: acute intracranial hypertension managed with endoscopic third ventriculostomy (ETV). Childs Nerv Syst (2008) 0.85
Governance for health and wellbeing in the English NHS. J Health Serv Res Policy (2011) 0.85
Delivering a pharmacogenetic service: is there a role for genetic counselors? J Genet Couns (2011) 0.84
BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries. J Med Genet (2010) 0.83
A comparison of methods for EGFR mutation testing in non-small cell lung cancer. Diagn Mol Pathol (2013) 0.83
Performance of everolimus-eluting versus paclitaxel-eluting coronary stents in small vessels: results from the SPIRIT III and SPIRIT IV clinical trials. J Interv Cardiol (2011) 0.83
Natural history of azathioprine-associated lymphopenia in inflammatory bowel disease patients: a prospective observational study. Eur J Gastroenterol Hepatol (2011) 0.82
Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population. Eur J Clin Pharmacol (2010) 0.82
Outcomes of delayed vitrectomy in open-globe injuries in young patients. Retina (2011) 0.81
Transition to propofol after sevoflurane anesthesia to prevent emergence agitation: a randomized controlled trial. Paediatr Anaesth (2015) 0.80
Diagnostic Mutation Profiling and Validation of Non-Small-Cell Lung Cancer Small Biopsy Samples using a High Throughput Platform. J Thorac Oncol (2015) 0.80
Early diagnosis of Stargardt disease with multifocal electroretinogram in children. Int Ophthalmol (2013) 0.79
The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated. Heart (2012) 0.79
Management of craniopharyngioma: the Liverpool experience following the introduction of the CCLG guidelines. Introducing a new risk assessment grading system. Childs Nerv Syst (2012) 0.79
Pay for performance schemes in primary care: what have we learnt? Qual Prim Care (2010) 0.78
Deterioration of visual acuity associated with growth hormone therapy in a child with extreme short stature and high hypermetropia. Horm Res (2006) 0.78
External quality assessment of BRAF molecular analysis in melanoma. J Clin Pathol (2013) 0.78
Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders. Clin Endocrinol (Oxf) (2009) 0.77
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. Am J Med Genet A (2005) 0.77
Improving Teamwork and Resiliency of Burn Center Nurses Through a Standardized Staff Development Program. J Burn Care Res (2016) 0.77
Quantitative analysis of plasma DNA in severe acute pancreatitis. JOP (2006) 0.76
Prolonged survival in hydranencephaly: a case report. Tenn Med (2003) 0.76
Gender-based evaluation of the XIENCE V everolimus-eluting coronary stent system: clinical and angiographic results from the SPIRIT III randomized trial. Catheter Cardiovasc Interv (2009) 0.76
Genetics of patent foramen ovale--NKX2-5 and beyond. Clin Neurol Neurosurg (2010) 0.76
Extraocular muscle afferent signals modulate visual attention. Invest Ophthalmol Vis Sci (2012) 0.76
Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome. Histopathology (2010) 0.76
Bilateral globus pallidus lesions. J La State Med Soc (2012) 0.76
Adipose tissue triglyceride fatty acids and atherosclerosis in Alaska Natives and non-Natives. Atherosclerosis (2005) 0.76
The cost of medical education in an ambulatory neurology clinic. J Natl Med Assoc (2005) 0.75
Re: Pharmacogenomic variation of CYP2D6 and the choice of optimal adjuvant endocrine therapy for postmenopausal breast cancer: a modeling analysis. J Natl Cancer Inst (2008) 0.75
Congenital trigeminal anaesthesia: a rare preventable cause of visual loss in children. BMJ Case Rep (2012) 0.75
A case of 9q21.11q22.1 triplication with novel ophthalmic features. Clin Dysmorphol (2017) 0.75
Prevalence of iron overload in pediatric oncology patients after blood transfusion. Clin Adv Hematol Oncol (2012) 0.75
A novel polymorphic triplet repeat in intron five of the alpha-synuclein gene: no evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish. Neuroreport (2002) 0.75
Genetic dissection of inflammatory bowel disease: unravelling etiology and improving diagnostics. Expert Rev Clin Immunol (2005) 0.75
A delayed presentation of congenital glaucoma. J Paediatr Child Health (2012) 0.75
Optical design and evaluation of a three-dimensional imaging and ranging system based on time-correlated single-photon counting. Appl Opt (2002) 0.75
Successful treatment of childhood spasticity secondary to cerebral palsy using Botox. Tenn Med (2003) 0.75
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. Am J Med Genet A (2005) 0.75
Coronary stenting in stable patients: identification of a low-risk subgroup that may not require adjunctive antiplatelet therapy. Catheter Cardiovasc Interv (2003) 0.75
The O-specific chain structure of the major component from the lipopolysaccharide fraction of Halomonas magadii strain 21 MI (NCIMB 13595). Carbohydr Res (2003) 0.75
Community nursing in systems reform: the London polyclinic experience. Br J Community Nurs (2011) 0.75
Modification of fatty acid composition in tomato (Lycopersicon esculentum) by expression of a borage delta6-desaturase. Mol Biotechnol (2002) 0.75
Mutations in the LMNA gene do not cause axonal CMT in Czech patients. J Hum Genet (2009) 0.75
Specificity of clinical examinations for testing glenohumeral ligament integrity: a computational study. Comput Methods Biomech Biomed Engin (2012) 0.75
The role of visually evoked potentials in the management of hemispheric arachnoid cyst compressing the posterior visual pathways. J AAPOS (2009) 0.75