Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE | Journal of the National Cancer Institute | 2013 | 616 |
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration | Nature Genetics | 2013 | 245 |
Mitochondrial genetics | British Medical Bulletin | 2013 | 219 |
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk | PLoS Genetics | 2013 | 209 |
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis | Neuromuscular Disorders | 2013 | 126 |
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 | Brain | 2013 | 103 |
Deficiency for endoglin in tumor vasculature weakens the endothelial barrier to metastatic dissemination | Journal of Experimental Medicine | 2013 | 96 |
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype | American Journal of Medical Genetics, Part A | 2013 | 80 |
SGCE mutations cause psychiatric disorders: clinical and genetic characterization | Brain | 2013 | 72 |
Corticosteroids in Duchenne muscular dystrophy: major variations in practice | Muscle and Nerve | 2013 | 70 |
Natural history of pulmonary function in collagen VI-related myopathies | Brain | 2013 | 69 |
Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months | Muscle and Nerve | 2013 | 62 |
Working conditions in mid-life and mental health in older ages | Advances in Life Course Research | 2013 | 59 |
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene | Journal of Neurology | 2013 | 54 |
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome | Human Genetics | 2013 | 54 |
Relationships of disability with age among adults aged 50 to 85: evidence from the United States, England and continental europe | PLoS ONE | 2013 | 53 |
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation | Human Mutation | 2013 | 51 |
The effect of B cell depletion therapy on anti-TSH receptor antibodies and clinical outcome in glucocorticoid-refractory Graves' orbitopathy | Clinical Endocrinology | 2013 | 48 |
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy | Developmental Medicine and Child Neurology | 2013 | 47 |
Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture | Atherosclerosis | 2013 | 46 |
Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations | Stem Cells and Development | 2013 | 46 |
Analysis of trace elements in complex matrices (soil) by Laser Induced Breakdown Spectroscopy (LIBS) | Analytical Methods | 2013 | 42 |
Evc regulates a symmetrical response to Shh signaling in molar development | Journal of Dental Research | 2013 | 40 |
Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study | Indian Journal of Human Genetics | 2013 | 39 |
Identification of a neuronal transcription factor network involved in medulloblastoma development | Acta Neuropathologica Communications | 2013 | 36 |