1.3K(top 11%)
articles
51.5K(top 8%)
citations
387(top 9%)
★★ articles
38(top 5%)
★★★ articles
4.5(top 5%)
Avg IF
106(top 6%)
H-Index
175(top 7%)
G-Index
588
journals

Most Cited Articles of Centre for Life in 2013

TitleJournalYearCitations
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACEJournal of the National Cancer Institute2013616
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degenerationNature Genetics2013245
Mitochondrial geneticsBritish Medical Bulletin2013219
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskPLoS Genetics2013209
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysisNeuromuscular Disorders2013126
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14Brain2013103
Deficiency for endoglin in tumor vasculature weakens the endothelial barrier to metastatic disseminationJournal of Experimental Medicine201396
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeAmerican Journal of Medical Genetics, Part A201380
SGCE mutations cause psychiatric disorders: clinical and genetic characterizationBrain201372
Corticosteroids in Duchenne muscular dystrophy: major variations in practiceMuscle and Nerve201370
Natural history of pulmonary function in collagen VI-related myopathiesBrain201369
Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 monthsMuscle and Nerve201362
Working conditions in mid-life and mental health in older agesAdvances in Life Course Research201359
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) geneJournal of Neurology201354
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeHuman Genetics201354
Relationships of disability with age among adults aged 50 to 85: evidence from the United States, England and continental europePLoS ONE201353
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationHuman Mutation201351
The effect of B cell depletion therapy on anti-TSH receptor antibodies and clinical outcome in glucocorticoid-refractory Graves' orbitopathyClinical Endocrinology201348
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophyDevelopmental Medicine and Child Neurology201347
Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque ruptureAtherosclerosis201346
Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutationsStem Cells and Development201346
Analysis of trace elements in complex matrices (soil) by Laser Induced Breakdown Spectroscopy (LIBS)Analytical Methods201342
Evc regulates a symmetrical response to Shh signaling in molar developmentJournal of Dental Research201340
Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective studyIndian Journal of Human Genetics201339
Identification of a neuronal transcription factor network involved in medulloblastoma developmentActa Neuropathologica Communications201336