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Diana Puente | doi.page

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Diana Puente

Universitat Autònoma de Barcelona(ES)Institut Universitari d'Investigació en Atenció Primària Jordi Gol(ES)

Publications by Year

Research Areas

Smoking Behavior and Cessation, Cancer Genomics and Diagnostics, COVID-19 and healthcare impacts, Chronic Lymphocytic Leukemia Research, Metabolism, Diabetes, and Cancer

Most-Cited Works

→ Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia(2011)1,519 cited
→ Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia(2011)992 cited
→ Non-coding recurrent mutations in chronic lymphocytic leukaemia(2015)842 cited
→ Landscape of somatic mutations and clonal evolution in mantle cell lymphoma(2013)518 cited
→ P53 as a prognostic marker for bladder cancer: a meta-analysis and review(2005)315 cited
→ POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance(2015)265 cited
→

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

(2011)

210 cited

→ Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy(2014)194 cited

→ Altered patterns of global protein synthesis and translational fidelity in RPS15-mutated chronic lymphocytic leukemia(2018)56 cited

→ From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of Primary Immunodeficiencies(2009)55 cited