M. Tosi

发表论文 112 篇 · 总被引 5457 次 · h-index 45

代表论文

• Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants (2012 · Human Mutation · 被引 246)
• Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools (2016 · PLoS Genetics · 被引 160)
• Kinetochore KMN network gene CASC5 mutated in primary microcephaly. (2012 · Human Molecular Genetics · 被引 119)
• Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases (2013 · Acta Neuropathologica · 被引 109)
• SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes (2019 · Human Mutation · 被引 96)
• Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes (2011 · European Journal of Human Genetics · 被引 93)