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International Journal of Molecular Sciences
|
July 2, 2021
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants
Selen Özkan, Natàlia Padilla, Xavier de la Cruz
International Journal of Molecular Sciences
|
July 29, 2023
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters
Josu Aguirre, Natàlia Padilla, Selen Özkan, et al.
Human Mutation
|
May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge
Natàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.
Human Mutation
|
July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
Melissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Human Genetics
|
March 7, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Biorxiv : the Preprint Server for Biology
|
May 27, 2024
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
International Journal of Molecular Sciences
|
July 2, 2021
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants
Selen Özkan, Natàlia Padilla, Xavier de la Cruz
International Journal of Molecular Sciences
|
July 29, 2023
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters
Josu Aguirre, Natàlia Padilla, Selen Özkan, et al.
Human Mutation
|
May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge
Natàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.
Human Mutation
|
July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
Melissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Human Genetics
|
March 7, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Biorxiv : the Preprint Server for Biology
|
May 27, 2024
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Page
of 1