- George Ebers, University of Oxford
- Jörg Epplen, Ruhr-Universität Bochum
- Giovanni Neri, Università Cattolica del S. Cuore
- Dan Rujescu, Universitätsklinikum Halle
- David-Alexandre Tregouet, INSERM
- Tim Sands, BioMed Central
Using next generation sequencing (NGS) for diagnosis of familial hypercholesterolemia in a primary care population subset with high cholesterol, shows that this approach could make selective screening in primary care feasible and increase genetic diagnoses of familial hypercholesterolemia.
A new genome wide association study confirms in a Thai population a previous finding from Vietnam of an association between two SNPs and risk of dengue shock syndrome, which is a leading cause of death from dengue infection.
Whole exome sequencing of Korean patients with autosomal recessive non-syndromic hearing loss found novel mutations and identified mutations in CDH23 as potentially an important causes of non-syndromic hearing loss in East Asians.
The expression of mismatch repair genes and their promoter methylation in colorectal cancer tissues shows great variation by the location of the tumor, and promoter methylation was only seen in the MLH1 gene in a subset of tumors.
BMC Medical Genetics 2014, 15:88
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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.