Concepedia

Author

Paula Rofes

Centro de Investigación Biomédica en Red de CáncerORCID

Also Known As

Gardenia Vargas-Parra, Paula Rofes

20

Publications

398

Citations

9

H-Index

29

Concepts

All Affiliations

Centro de Investigación Biomédica en Red de CáncerInstitut Català d'OncologiaInstitut d'Investigació Biomédica de BellvitgeInstitut d'Investigació Biomèdica de GironaUniversitat de Girona
PR

About

Paula Rofes is an author at Centro de Investigación Biomédica en Red de Cáncer specializing in medicine, molecular diagnostics, and cancer genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

6

6

249

2

Public Health

2

2

164

3

Biostatistics

1

1

148

4

Epidemiology

1

1

148

5

Genetic Medicine

1

1

148

Paula Rofes

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9

Publications

369

Citations

9

H-Index

YearCitations

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

Michael T. Parsons, Emma Tudini, Hongyan Li,

Human Mutation

2019

148

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

Jesús Del Valle, Paula Rofes, José Marcos Moreno-Cabrera,

Cancers

2020

82

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis

Paula Rofes, Sara González, Matilde Navarro,

Journal of Molecular Diagnostics

2021

31

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Lorena Martín-Morales, Paula Rofes, Eduardo Díaz‐Rubio,

PLoS ONE

2018

24

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Agostina Stradella, Jesús Del Valle, Paula Rofes,

Journal of Medical Genetics

2018

22

Comprehensive analysis and ACMG‐based classification of <i>CHEK2</i> variants in hereditary cancer patients

Gardenia Vargas‐Parra, Jesús Del Valle, Paula Rofes,

Human Mutation

2020

16

ERCC3, a new ovarian cancer susceptibility gene?

Agostina Stradella, Jesús Del Valle, Paula Rofes,

European Journal of Cancer

2020

16

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

Paula Rofes, Jesús Del Valle, Sara Torres‐Esquius,

Genes

2021

16

Improving Genetic Testing in Hereditary Cancer by RNA Analysis

Paula Rofes, Mireia Menéndez, Sara González,

Journal of Molecular Diagnostics

2020

14

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