- George Ebers, University of Oxford
- Giovanni Neri, Università Cattolica del S. Cuore
- Dan Rujescu, Universitätsklinikum Halle
- David-Alexandre Tregouet, INSERM
- Tim Sands, BioMed Central
A PCR method can successfully amplify myotonic dystrophy type 1 alleles directly from whole blood in 15 minutes, providing a proof-of-principle for how current PCR technology can be adapted to rapid, direct genetic tests.
Genetic variations in the genes SIRT1 and FOXO1 are found to be associated with carotid artery atherosclerosis, and specifically common carotid intima-media thickness in the large SAPHIR cohort and shows a higher effect size in women.
BMC Medical Genetics 2015, 16:18
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Giovanni Neri is professor and chair at the Institute of Medical Genetics of the Catholic University School of Medicine in Rome and chief of the Medical Genetics Services of the "A. Gemelli" University Hospital. He is currently serving as President of the Societá Italiana di Genetica Umana and as member of the Scientific Program Committee of the European Society of Human Genetics. He is advisory editor of the American Journal of Medical Genetics. His main research interests are in the field of mental retardation, specifically the fragile X syndrome, and of malformation syndromes, including the RASopathies and overgrowth syndromes.