Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer | JAMA - Journal of the American Medical Association | 2015 | 286 |
Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Nature Genetics | 2015 | 177 |
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4 | American Journal of Human Genetics | 2015 | 90 |
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans | Human Molecular Genetics | 2015 | 54 |
Leptin modulates human Sertoli cells acetate production and glycolytic profile: a novel mechanism of obesity-induced male infertility? | Biochimica Et Biophysica Acta - Molecular Basis of Disease | 2015 | 51 |
Dose-dependent effects of caffeine in human Sertoli cells metabolism and oxidative profile: relevance for male fertility | Toxicology | 2015 | 51 |
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk | Human Molecular Genetics | 2015 | 46 |
Prediction of individual genetic risk to prostate cancer using a polygenic score | Prostate | 2015 | 43 |
A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate Cancer | Cancer Discovery | 2015 | 41 |
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis | Molecular Genetics and Metabolism | 2015 | 34 |
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 | Scientific Reports | 2015 | 27 |
Probing insulin bioactivity in oral nanoparticles produced by ultrasonication-assisted emulsification/internal gelation | International Journal of Nanomedicine | 2015 | 26 |
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers | PLoS ONE | 2015 | 26 |
Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants | European Journal of Human Genetics | 2015 | 25 |
Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations | Pediatric Blood and Cancer | 2015 | 25 |
The role of estrogens and estrogen receptor signaling pathways in cancer and infertility: the case of schistosomes | Trends in Parasitology | 2015 | 24 |
Increased arterial blood pressure and vascular remodeling in mice lacking salt-inducible kinase 1 (SIK1) | Circulation Research | 2015 | 24 |
Genome-wide association study of prostate cancer-specific survival | Cancer Epidemiology Biomarkers and Prevention | 2015 | 23 |
Mutation analysis in patients with total sperm immotility | Journal of Assisted Reproduction and Genetics | 2015 | 21 |
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer | Scientific Reports | 2015 | 21 |
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers | Cancer Epidemiology Biomarkers and Prevention | 2015 | 20 |
Embryological, clinical and ultrastructural study of human oocytes presenting indented zona pellucida | Zygote | 2015 | 18 |
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry | Clinical Genetics | 2015 | 18 |
Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma | Clinica Chimica Acta | 2015 | 17 |
CT maxillary sinus evaluation--A retrospective cohort study | Medicina Oral, Patologia Oral Y Cirugia Bucal | 2015 | 17 |