- George Ebers, University of Oxford
- Giovanni Neri, Università Cattolica del S. Cuore
- Dan Rujescu, Universitätsklinikum Halle
- David-Alexandre Tregouet, INSERM
- Tim Sands, BioMed Central
Applying a targeted next-generation sequencing panel assay for Inherited Peripheral Neuropathy—a group of disorders known for being genetically heterogeneous—in clinically-suspected patients provides a high diagnostic yield and found mutations not indicated by the patient phenotype.
Coverage of pharmacogenetics in UK print media over-emphasizes benefits and downplays risks; as this is an important source of health information there is an onus on researchers to provide balanced claims in press releases, and for nuanced reporting from journalists.
Germline mutations in the TP53 gene have been identified in French-Canadian patients attending hereditary breast cancer clinics, along with other patients without suspected family history, finding six new mutations, with all diagnoses under 50 years old.
BMC Medical Genetics 2015, 16:88
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BMC Medical Genetics is an open access, peer-reviewed journal that considers articles on the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
BMC Medical Genetics is part of the BMC series which publishes subject-specific journals focused on the needs of individual research communities across all areas of biology and medicine. We offer an efficient, fair and friendly peer review service, and are committed to publishing all sound science, provided that there is some advance in knowledge presented by the work.
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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.
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