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Paula Rofes

Institut d'Investigació Biomédica de Bellvitge(ES)

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21

Papers

406

Citations

10

h-index

10

i10-index

Paula Rofes is an academic researcher from Institut d'Investigació Biomédica de Bellvitge. The author has contributed to research in topics: Genetic factors in colorectal cancer & Cancer Genomics and Diagnostics & Genomics and Rare Diseases. The author has an h-index of 10, co-authored 18 publications.

ORCID: 0000-0001-6045-7879

Research Topics

Genetic factors in colorectal cancer Cancer Genomics and Diagnostics Genomics and Rare Diseases BRCA gene mutations in cancer DNA Repair Mechanisms

Papers by this author

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Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

2019 · Human Mutation · 150 citations

https://doi.org/10.1002/humu.23818

Michael T. Parsons Emma Tudini Hongyan Li Eric Hahnen

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

2021 · Scientific Reports · 0 citations

https://doi.org/10.1038/s41598-021-02465-y

Paula Rofes Marta Pineda Lídia Feliubadaló Mireia Menéndez

Research topics

topics

Genetic factors in colorectal cancer

Cancer Genomics and Diagnostics

Genomics and Rare Diseases

BRCA gene mutations in cancer

DNA Repair Mechanisms

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