Lidia Feliubadaló

University Name

Spain

Research Interests

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Articles (16)

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data

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Year:

2024

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

Article Link

Year:

2024

A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

Article Link

Year:

2024

Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.

Article Link

Year:

2023

Choosing Variant Interpretation Tools for Clinical Applications: Context Matters

Article Link

Year:

2023

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

Article Link

Year:

2023

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Article Link

Year:

2023

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Article Link

Year:

2023

Mosaicism in PTEN—new case and comment on the literature

Article Link

Year:

2022

Mosaicism in PTEN-new case and comment on the literature

Article Link

Year:

2022

A decade of RAD51C and RAD51D germline variants in cancer

Article Link

Year:

2022

A decade of RAD51C and RAD51D germline variants in cancer

Article Link

Year:

2022

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Article Link

Year:

2022

First international workshop of the ATM and cancer risk group (4-5 December 2019)

Article Link

Year:

2022

Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

Article Link

Year:

2022

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Article Link

Year:

2022

Collaborators (19)

Kathleen Claes

Associate professor

Ghent University Hospital

BELGIUM

Alexandre Orthwein

Assistant Professor

Emory University School of Medicine

UNITED STATES

Louise Marquart

Senior Lecturer Biostatistics

University of Queensland

AUSTRALIA

Anna Ruiz

Institute of Research and Innovation Parc Tauli

SPAIN

Marco Montagna

Istituto Oncologico Veneto

ITALY

Jacques Simard

Full Professor

Laval University

CANADA

Sara González

Institut Català d'Oncologia

SPAIN

FEI CHEN

Assistant Professor

University of Southern California

UNITED STATES

Ines Munoz

Head of Unit (Protein Crystallography Unit)

Centro Nacional de Investigaciones Oncológicas

SPAIN

Alexandra Martins

INSERM

FRANCE

Mariarosaria Calvello

European Institute of Oncology

ITALY

Laura Valle

Institut d'Investigacions Biomèdiques de Barcelona

SPAIN

Marketa Janatova

Assistanf Professor and researcher

Přírodovědecká Fakulta, Univerzita Karlova

CZECH REPUBLIC

Jose Luis Soto

Associate Professor

Universidad de Alicante

SPAIN

Douglas F. Easton

University of Cambridge

UNITED KINGDOM

Manuel António Rodrigues Teixeira

Guest Full Professor

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar

PORTUGAL

Jeffrey Weitzel

Professor and Director

University of Kansas Cancer Center

UNITED STATES

Yen Tan

Staff Scientist, Head of BRCA and Hereditary Cancers Working Group

Medical University of Vienna

AUSTRIA

Peter Mace

University of Otago

NEW ZEALAND

Lidia Feliubadaló

Research Interests

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Contact this professor

Articles (16)

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.

Choosing Variant Interpretation Tools for Clinical Applications: Context Matters

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Mosaicism in PTEN—new case and comment on the literature

Mosaicism in PTEN-new case and comment on the literature

A decade of RAD51C and RAD51D germline variants in cancer

A decade of RAD51C and RAD51D germline variants in cancer

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

First international workshop of the ATM and cancer risk group (4-5 December 2019)

Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Collaborators (19)

Kathleen Claes

Alexandre Orthwein

Louise Marquart

Anna Ruiz

Marco Montagna

Jacques Simard

Sara González

FEI CHEN

Ines Munoz

Alexandra Martins

Mariarosaria Calvello

Laura Valle

Marketa Janatova

Jose Luis Soto

Douglas F. Easton

Manuel António Rodrigues Teixeira

Jeffrey Weitzel

Yen Tan

Peter Mace

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