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Díez, Orland
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1

A New Set of in Silico Tools to Support the Interpretation ..:

Porras, Luz-Marina ; Padilla, Natàlia ; Moles-Fernández, Alejandro...
The Journal of Molecular Diagnostics.  26 (2024)  1 - p. 17-28 , 2024
Link: https://doi.org/10.1016/..
 
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2

Role of psychological background in cancer susceptibility g..:

López‐Fernández, Adrià ; Villacampa, Guillermo ; Salinas, Mònica...
Journal of Genetic Counseling.  32 (2023)  4 - p. 778-787 , 2023
Link: https://doi.org/10.1002/..
 
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3

An spanish study of secondary findings in families affected..:

Codina-Solà, Marta ; Trujillano, Laura ; Abulí, Anna...
European Journal of Human Genetics.  31 (2022)  2 - p. 223-230 , 2022
Link: https://doi.org/10.1038/..
 
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4

Cell Senescence-Related Pathways Are Enriched in Breast Can..:

Aguado-Flor, Ester ; Fuentes-Raspall, María J. ; Gonzalo, Ricardo...
Frontiers in Oncology.  12 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary ..:

Montalban, Gemma ; Bonache, Sandra ; Bach, Vanessa...
Cancer Genetics.  258-259 (2021)  - p. 10-17 , 2021
Link: https://doi.org/10.1016/..
 
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6

Clinical consequences of BRCA2 hypomorphism:

Castells-Roca, Laia ; Gutiérrez-Enríquez, Sara ; Bonache, Sandra...
npj Breast Cancer.  7 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

Role of Splicing Regulatory Elements and In Silico Tools Us..:

Moles-Fernández, Alejandro ; Domènech-Vivó, Joanna ; Tenés, Anna...
Cancers.  13 (2021)  13 - p. 3341 , 2021
Link: https://doi.org/10.3390/..
 
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8

BARD1 Pathogenic Variants Are Associated with Triple-Negati..:

Rofes, Paula ; Del Valle, Jesús ; Torres-Esquius, Sara...
Genes.  12 (2021)  2 - p. 150 , 2021
Link: https://doi.org/10.3390/..
 
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9

The computational approach to variant interpretation:

, In: Clinical DNA Variant Interpretation,
Özkan, Selen ; Padilla, Natàlia ; Moles-Fernández, Alejandro... - p. 89-119 , 2021
Link: https://doi.org/10.1016/..
 
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10

Evaluation of the association of heterozygous germline vari..:

Li, Na ; Zethoven, Magnus ; McInerny, Simone...
npj Breast Cancer.  7 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

First international workshop of the ATM and cancer risk gro..:

Lesueur, Fabienne ; Easton, Douglas F. ; Renault, Anne-Laure...
Familial Cancer.  21 (2021)  2 - p. 211-227 , 2021
Link: https://doi.org/10.1007/..
 
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12

Contributors:

, In: Clinical DNA Variant Interpretation,
Alves, Ana Catarina ; Austin-Tse, Christina Anne ; Bourbon, Mafalda... - p. xvii-xxi , 2021
Link: https://doi.org/10.1016/..
 
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13

A Collaborative Effort to Define Classification Criteria fo..:

Feliubadaló, Lidia ; Moles-Fernández, Alejandro ; Santamariña-Pena, Marta...
Clinical Chemistry.  67 (2020)  3 - p. 518-533 , 2020
Link: https://doi.org/10.1093/..
 
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14

The Spectrum of FANCM Protein Truncating Variants in Europe..:

Figlioli, Gisella ; Kvist, Anders ; Tham, Emma...
Cancers.  12 (2020)  2 - p. 292 , 2020
Link: https://doi.org/10.3390/..
 
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15

Opportunistic testing of BRCA1, BRCA2 and mismatch repair g..:

Feliubadaló, Lídia ; López‐Fernández, Adrià ; Pineda, Marta...
International Journal of Cancer.  145 (2019)  10 - p. 2682-2691 , 2019
Link: https://doi.org/10.1002/..
 
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