Pablo Cingolani

机构：Hospital Universitario Austral, AstraZeneca (United States) · ORCID：0000-0003-1553-0920

发表论文 46 篇 · 总被引 16705 次 · h-index 19

代表论文

• A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017 · Diabetes · 被引 53)
• Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017 · Scientific Data · 被引 43)
• Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees (2017 · Proceedings of the National Academy of Sciences · 被引 37)
• Clinical Application of a Cancer Genomic Profiling Assay to Guide Precision Medicine Decisions (2017 · Personalized Medicine · 被引 32)
• Prioritisation of structural variant calls in cancer genomes (2017 · PeerJ · 被引 21)
• A Bioinformatics-Based Alternative mRNA Splicing Code that May Explain Some Disease Mutations Is Conserved in Animals (2017 · Frontiers in Genetics · 被引 15)