SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

por Canson, Daffodil M, Davidson, Aimee L, de la Hoya, Miguel, Parsons, Michael T, Glubb, Dylan M, Kondrashova, Olga, Spurdle, Amanda B
Publicado 2023

Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families

por Romero, Atocha, Garre, Pilar, Valentin, Olivia, Sanz, Julian, Pérez-Segura, Pedro, Llovet, Patricia, Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad
Publicado 2013

Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

por Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Publicado 2020

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

por Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Publicado 2020

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2

por Hidalgo Mayoral, Irene, Almeida Santiago, Ainhoa, Sánchez-Zapardiel, Jose Manuel, Hidalgo Calero, Beatriz, de la Hoya, Miguel, Gómez-Sanz, Alicia, de Miguel Reyes, Montserrat, Robles, Luis
Publicado 2023

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

por Martin-Morales, Lorena, Rofes, Paula, Diaz-Rubio, Eduardo, Llovet, Patricia, Lorca, Victor, Bando, Inmaculada, Perez-Segura, Pedro, de la Hoya, Miguel, Garre, Pilar, Garcia-Barberan, Vanesa, Caldes, Trinidad
Publicado 2018

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

por Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Valenzuela-Palomo, Alberto, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, Pérez-Segura, Pedro, García-Álvarez, Alicia, de la Hoya, Miguel, Velasco-Sampedro, Eladio A.
Publicado 2022

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

por Gayarre, Javier, Martín-Gimeno, Paloma, Osorio, Ana, Paumard, Beatriz, Barroso, Alicia, Fernández, Victoria, de la Hoya, Miguel, Rojo, Alejandro, Caldés, Trinidad, Palacios, José, Urioste, Miguel, Benítez, Javier, García, María J
Publicado 2017

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

por Valenzuela-Palomo, Alberto, Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, García-Álvarez, Alicia, Pérez-Segura, Pedro, Gómez-Barrero, Susana, de la Hoya, Miguel, Velasco-Sampedro, Eladio A.
Publicado 2022

BRCA1 Alternative splicing landscape in breast tissue samples

por Romero, Atocha, García-García, Francisco, López-Perolio, Irene, Ruiz de Garibay, Gorka, García-Sáenz, José A, Garre, Pilar, Ayllón, Patricia, Benito, Esperanza, Dopazo, Joaquín, Díaz-Rubio, Eduardo, Caldés, Trinidad, de la Hoya, Miguel
Publicado 2015

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

por Brandão, Rita D., Mensaert, Klaas, López‐Perolio, Irene, Tserpelis, Demis, Xenakis, Markos, Lattimore, Vanessa, Walker, Logan C., Kvist, Anders, Vega, Ana, Gutiérrez‐Enríquez, Sara, Díez, Orland, de la Hoya, Miguel, Spurdle, Amanda B., De Meyer, Tim, Blok, Marinus J.
Publicado 2019

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

por Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Poves, Carmen, Fernández-Aceñero, María Jesús, Ruiz-Ponte, Clara, Llovet, Patricia, Marrupe, David, García-Barberán, Vanesa, García-Paredes, Beatriz, Pérez-Segura, Pedro, de la Hoya, Miguel, Díaz-Rubio, Eduardo, Caldés, Trinidad, Garre, Pilar
Publicado 2017

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

por Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Lorca, Víctor, Gómez-Sanz, Alicia, Carvalho, Sara, Allen, Jamie, Infante, Mar, Pérez-Segura, Pedro, Lázaro, Conxi, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Publicado 2021

Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

por Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Fernández-Aceñero, María Jesús, Grolleman, Judith, Poves, Carmen, Llovet, Patricia, Tapial, Sandra, García-Barberán, Vanesa, Sanz, Julián, Pérez-Segura, Pedro, de Voer, Richarda M., Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad, Garre, Pilar
Publicado 2019

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants

por Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Valenzuela‐Palomo, Alberto, Esteban‐Sánchez, Ada, Lorca, Víctor, Llinares‐Burguet, Inés, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Durán, Mercedes, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, de la Hoya, Miguel, Velasco‐Sampedro, Eladio A
Publicado 2022

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

por Walker, Logan C., de la Hoya, Miguel, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T, Canson, Daffodil M, Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B, Pesaran, Tina, Karam, Rachid, Harrison, Steven, Spurdle, Amanda B
Publicado 2023

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

por Walker, Logan C., Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A. R., Hakkaart, Christopher, Cree, Simone L., Behar, Raquel, Houdayer, Claude, Investigators, kConFab, Parsons, Michael T., Kennedy, Martin A., Spurdle, Amanda B., de la Hoya, Miguel
Publicado 2019

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

por Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Bueno-Martínez, Elena, Llovet, Patricia, Díez-Gómez, Beatriz, Caloca, María José, Pérez-Segura, Pedro, Fraile-Bethencourt, Eugenia, Colmena, Marta, Carvalho, Sara, Allen, Jamie, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Publicado 2020

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

por Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara
Publicado 2018

Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants

por Valenzuela‐Palomo, Alberto, Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Lorca, Víctor, Fraile‐Bethencourt, Eugenia, Esteban‐Sánchez, Ada, Gómez‐Barrero, Susana, Carvalho, Sara, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Dorling, Leila, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, de la Hoya, Miguel, Velasco, Eladio A
Publicado 2021