Miguel de la Hoya

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 25

Top Venues

Cancers

The Journal of pathology

Human mutation

Genes

This page only lists publications with an associated author ORCID identifier.

Publications

Lara Sanoguera-Miralles, Inés Llinares-Burguet, Elena Bueno-Martínez, Lobna Ramadane-Morchadi, Cristiana Stuani, Alberto Valenzuela-Palomo, Alicia García-Álvarez, Pedro Pérez-Segura, Emanuele Buratti, Miguel de la Hoya, Eladio A Velasco
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants. The Journal of pathology 262 (4) (2024)
Lara Sanoguera-Miralles, Inés Llinares-Burguet, Elena Bueno-Martínez, Lobna Ramadane-Morchadi, Cristiana Stuani, Alberto Valenzuela-Palomo, Alicia García-Álvarez, Pedro Pérez-Segura, Emanuele Buratti, Miguel de la Hoya, Eladio A Velasco
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants. The Journal of pathology 262 (4) (2024)
Lara Sanoguera-Miralles, Inés Llinares-Burguet, Elena Bueno-Martínez, Lobna Ramadane-Morchadi, Cristiana Stuani, Alberto Valenzuela-Palomo, Alicia García-Álvarez, Pedro Pérez-Segura, Emanuele Buratti, Miguel de la Hoya, Eladio A Velasco
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants. The Journal of pathology 262 (4) (2024)
Lara Sanoguera-Miralles, Inés Llinares-Burguet, Elena Bueno-Martínez, Lobna Ramadane-Morchadi, Cristiana Stuani, Alberto Valenzuela-Palomo, Alicia García-Álvarez, Pedro Pérez-Segura, Emanuele Buratti, Miguel de la Hoya, Eladio A Velasco
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants. The Journal of pathology (2024)
Irene Hidalgo Mayoral, Ainhoa Almeida Santiago, Jose Manuel Sánchez-Zapardiel, Beatriz Hidalgo Calero, Miguel de la Hoya, Alicia Gómez-Sanz, Montserrat de Miguel Reyes, Luis Robles
Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2 . Genes 14 (2) (2023)
Irene Hidalgo Mayoral, Ainhoa Almeida Santiago, Jose Manuel Sánchez-Zapardiel, Beatriz Hidalgo Calero, Miguel de la Hoya, Alicia Gómez-Sanz, Montserrat de Miguel Reyes, Luis Robles
Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2 . Genes 14 (2) (2023)
Denise G O'Mahony, Susan J Ramus, Melissa C Southey, Nicola S Meagher, Andreas Hadjisavvas, Esther M John, Ute Hamann, Evgeny N Imyanitov, Irene L Andrulis, Priyanka Sharma, Mary B Daly, Christopher R Hake, Jeffrey N Weitzel, Anna Jakubowska, Andrew K Godwin, Adalgeir Arason, Anita Bane, Jacques Simard, Penny Soucy, Maria A Caligo, Phuong L Mai, Kathleen B M Claes, Manuel R Teixeira, Wendy K Chung, Conxi Lazaro, Peter J Hulick, Amanda Ewart Toland, Inge Sokilde Pedersen, null null, Susan L Neuhausen, Ana Vega, Miguel de la Hoya, Heli Nevanlinna, Mallika Dhawan, Valentina Zampiga, Rita Danesi, Liliana Varesco, Viviana Gismondi, Valerio Gaetano Vellone, Paul A James, Ramunas Janavicius, Liene Nikitina-Zake, Finn Cilius Nielsen, Thomas van Overeem Hansen, Tanja Pejovic, Ake Borg, Johanna Rantala, Kenneth Offit, Marco Montagna, Katherine L Nathanson, Susan M Domchek, Ana Osorio, María José García, Beth Y Karlan, null null, Anna De Fazio, David Bowtell, null null, Lesley McGuffog, Goska Leslie, Michael T Parsons, Thilo Dörk, Lisa-Marie Speith, Elizabeth Santana Dos Santos, Alexandre André B A da Costa, Paolo Radice, Paolo Peterlongo, Laura Papi, Christoph Engel, Eric Hahnen, Rita K Schmutzler, Barbara Wappenschmidt, Douglas F Easton, Marc Tischkowitz, Christian F Singer, Yen Yen Tan, Alice S Whittemore, Weiva Sieh, James D Brenton, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Jana Soukupova, Michal Vocka, null null, Georgia Chenevix-Trench, Paul David Peter Pharoah, Antonis C Antoniou, David E Goldgar, Amanda B Spurdle, Kyriaki Michailidou, null null, null null
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. British journal of cancer (2023)
Irene Hidalgo Mayoral, Ainhoa Almeida Santiago, Jose Manuel Sánchez-Zapardiel, Beatriz Hidalgo Calero, Miguel de la Hoya, Alicia Gómez-Sanz, Montserrat de Miguel Reyes, Luis Robles
Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2 . Genes 14 (2) (2023)
Mads Thomassen, Romy L S Mesman, Thomas V O Hansen, Mireia Menendez, Maria Rossing, Ada Esteban-Sánchez, Emma Tudini, Therese Törngren, Michael T Parsons, Inge S Pedersen, Soo H Teo, Torben A Kruse, Pål Møller, Åke Borg, Uffe B Jensen, Lise L Christensen, Christian F Singer, Daniela Muhr, Marta Santamarina, Rita Brandao, Brage Storstein Andresen, Bing-Jian Feng, Daffodil Canson, Marcy E Richardson, Rachid Karam, Tina Pesaran, Holly LaDuca, Blair R Conner, Nelly Abualkheir, Lily Hoang, Fabienne M G R Calléja, Lesley Andrews, Paul A James, Dave Bunyan, Amanda Hamblett, Paolo Radice, David E Goldgar, Logan C Walker, Christoph Engel, Kathleen B M Claes, Eva Macháčková, Htoo Aung Wai, Alessandra Viel, Barbara Wappenschmidt, Conxi Lazaro, Ana Vega, null null, Maaike P G Vreeswijk, Miguel de la Hoya, Amanda B Spurdle
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Human mutation (2022)
Erik Michel Marchena-Perea, Milton Eduardo Salazar-Hidalgo, Alicia Gómez-Sanz, Mónica Arranz-Ledo, Alicia Barroso, Victoria Fernández, Hugo Tejera-Pérez, Guillermo Pita, Rocío Núñez-Torres, Luz Pombo, Rafael Morales-Chamorro, Juana María Cano-Cano, Maria Del Carmen Soriano, Pilar Garre, Mercedes Durán, María Currás-Freixes, Miguel de la Hoya, Ana Osorio
A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility. Cancers 14 (19) (2022)
Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sánchez, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Susana Gómez-Barrero, Miguel de la Hoya, Eladio A Velasco
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants. Cancers 14 (18) (2022)
Sherly X Li, Valentina Silvestri, Goska Leslie, Timothy R Rebbeck, Susan L Neuhausen, John L Hopper, Henriette Roed Nielsen, Andrew J Lee, Xin Yang, Lesley McGuffog, Michael T Parsons, Irene L Andrulis, Norbert Arnold, Muriel Belotti, Åke Borg, Bruno Buecher, Saundra S Buys, Sandrine M Caputo, Wendy K Chung, Chrystelle Colas, Sarah V Colonna, Jackie Cook, Mary B Daly, Miguel de la Hoya, Antoine De Pauw, Hélène Delhomelle, Jacqueline Eason, Christoph Engel, D Gareth Evans, Ulrike Faust, Tanja N Fehm, Florentia Fostira, George Fountzilas, Megan N Frone, Vanesa Garcia-Barberan, Pilar Garre, Marion Gauthier-Villars, Andrea Gehrig, Gord Glendon, David E Goldgar, Lisa Golmard, Mark H Greene, Eric Hahnen, Ute Hamann, Helen Hanson, Tiara Hassan, Julia Hentschel, Judit Horvath, Louise Izatt, Ramunas Janavicius, Yue Jiao, Isabelle Durot, Beth Y Karlan, Sung-Won Kim, Irene Konstantopoulou, Ava Kwong, Anthony Laugé, Jong Won Lee, Fabienne Lesueur, Noura Mebirouk, Alfons Meindl, Emmanuelle Mouret-Fourme, Hannah Musgrave, Joanne Ngeow Yuen Yie, Dieter Niederacher, Sue K Park, Inge Sokilde Pedersen, Juliane Ramser, Susan J Ramus, Johanna Rantala, Muhammad Usman Rashid, Florian Reichl, Julia Ritter, Andreas Rump, Marta Santamariña, Claire Saule, Gunnar Schmidt, Rita K Schmutzler, Leigha Senter, Saba Shariff, Christian F Singer, Melissa C Southey, Dominique Stoppat-Lyonnet, Christian Sutter, Yen Tan, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Amanda Ewart Toland, Diana Torres, Ana Vega, Sebastian A Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard Heinrich Friedrich Weber, Drakoulis Yannoukakos, Amanda B Spurdle, Douglas F Easton, Georgia Chenevix-Trench, Laura Ottini, Antonis C Antoniou
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 40 (14) (2022)
Eileen O Dareng, Jonathan P Tyrer, Daniel R Barnes, Michelle R Jones, Xin Yang, Katja K H Aben, Muriel A Adank, Simona Agata, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Gerasimos Aravantinos, Banu K Arun, Annelie Augustinsson, Judith Balmaña, Elisa V Bandera, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Marina Bermisheva, Marcus Q Bernardini, Line Bjorge, Amanda Black, Natalia V Bogdanova, Bernardo Bonanni, Ake Borg, James D Brenton, Agnieszka Budzilowska, Ralf Bützow, Saundra S Buys, Hui Cai, Maria A Caligo, Ian G Campbell, Rikki Cannioto, Hayley Cassingham, Jenny Chang-Claude, Stephen J Chanock, Kexin Chen, Yoke-Eng Chiew, Wendy K Chung, Kathleen B M Claes, Sarah Colonna, null null, null null, null null, Linda S Cook, Fergus J Couch, Mary B Daly, Fanny Dao, Eleanor Davies, Miguel de la Hoya, Robin de Putter, Joe G Dennis, Allison DePersia, Peter Devilee, Orland Diez, Yuan Chun Ding, Jennifer A Doherty, Susan M Domchek, Thilo Dörk, Andreas du Bois, Matthias Dürst, Diana M Eccles, Heather A Eliassen, Christoph Engel, Gareth D Evans, Peter A Fasching, James M Flanagan, Renée T Fortner, Eva Macháčková, Eitan Friedman, Patricia A Ganz, Judy Garber, Francesca Gensini, Graham G Giles, Gord Glendon, Andrew K Godwin, Marc T Goodman, Mark H Greene, Jacek Gronwald, null null, null null, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Ute Hamann, Thomas V O Hansen, Holly R Harris, Mikael Hartman, Florian Heitz, Michelle A T Hildebrandt, Estrid Høgdall, Claus K Høgdall, John L Hopper, Ruea-Yea Huang, Chad Huff, Peter J Hulick, David G Huntsman, Evgeny N Imyanitov, null null, null null, Claudine Isaacs, Anna Jakubowska, Paul A James, Ramunas Janavicius, Allan Jensen, Oskar Th Johannsson, Esther M John, Michael E Jones, Daehee Kang, Beth Y Karlan, Anthony Karnezis, Linda E Kelemen, Elza Khusnutdinova, Lambertus A L M Kiemeney, Byoung-Gie Kim, Susanne K Kjaer, Ian Komenaka, Jolanta Kupryjanczyk, Allison W Kurian, Ava Kwong, Diether Lambrechts, Melissa C Larson, Conxi Lazaro Garcia, Nhu D Le, Goska Leslie, Jenny Lester, Fabienne Lesueur, Douglas A Levine, Lian Li, Jingmei Li, Jennifer T Loud, Karen H Lu, Jan Lubiński, Phuong L Mai, Siranoush Manoukian, Jeffrey R Marks, Rayna Kim Matsuno, Keitaro Matsuo, Taymaa May, Lesley McGuffog, John R McLaughlin, Iain A McNeish, Noura Mebirouk, Usha Menon, Austin Miller, Jonathan Beesley, Albina Minlikeeva, Francesmary Modugno, Marco Montagna, Kirsten B Moysich, Elizabeth Munro, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Henriette Roed Nielsen, Finn C Nielsen, Liene Nikitina-Zake, Kunle Odunsi, Kenneth Offit, Edith Olah, Siel Olbrecht, Olufunmilayo I Olopade, Sara H Olson, Håkan Olsson, Ana Osorio, Laura Papi, Sue-Kyung Park, Michael T Parsons, Harsha Pathak, Inge Sokilde Pedersen, Ana Peixoto, Tanja Pejovic, Pedro Perez-Segura, Jennifer B Permuth, Beth N Peshkin, Paolo Peterlongo, Anna Piskorz, Darya Prokofyeva, Paolo Radice, Johanna Rantala, Marjorie J Riggan, Harvey A Risch, Cristina Rodriguez-Antona, Eric A Ross, Mary Anne Rossing, Ingo Runnebaum, Dale R Sandler, Marta Santamariña, Penny Soucy, Rita K Schmutzler, V Wendy Setiawan, Kang Shan, Weiva Sieh, Jacques Simard, Christian F Singer, Anna P Sokolenko, Honglin Song, Melissa C Southey, Helen Steed, Dominique Stoppat-Lyonnet, Rebecca Sutphen, Anthony J Swerdlow, Yen Yen Tan, Manuel R Teixeira, Soo-Hwang Teo, Kathryn L Terry, Mary Beth Terry, null null, null null, Mads Thomassen, Pamela J Thompson, Liv Cecilie Vestrheim Thomsen, Darcy L Thull, Marc Tischkowitz, Linda Titus, Amanda Ewart Toland, Diana Torres, Britton Trabert, Ruth C Travis, Nadine Tung, Shelley T Tworoger, Ellen Valen, Anne M van Altena, Annemieke H van der Hout, Els Van Nieuwenhuysen, Elizabeth J vanRensburg, Ana Vega, Digna Velez Edwards, Robert A Vierkant, Frances Wang, Barbara Wappenschmidt, Penelope M Webb, Clarice R Weinberg, Jeffrey N Weitzel, Nicolas Wentzensen, Emily White, Alice S Whittemore, Stacey J Winham, Alicja Wolk, Yin-Ling Woo, Anna H Wu, Li Yan, Drakoulis Yannoukakos, Katia M Zavaglia, Wei Zheng, Argyrios Ziogas, Kristin K Zorn, Zdenek Kleibl, Douglas F Easton, Kate Lawrenson, Anna De Fazio, Thomas A Sellers, Susan J Ramus, Celeste L Pearce, Alvaro N A Monteiro, Julie M Cunningham, Ellen L Goode, Joellen M Schildkraut, Andrew Berchuck, Georgia Chenevix-Trench, Simon A Gayther, Antonis C Antoniou, Paul David Peter Pharoah
Polygenic risk modeling for prediction of epithelial ovarian cancer risk. European journal of human genetics : EJHG 30 (3) (2022)
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Víctor Lorca, Inés Llinares-Burguet, Jamie Allen, Alicia García-Álvarez, Pedro Pérez-Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike Pg Vreeswijk, Miguel de la Hoya, Eladio A Velasco
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants. The Journal of pathology 258 (1) (2022)
Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A Velasco
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C . Cancers 14 (12) (2022)
Christopher Hakkaart, John F Pearson, Louise Marquart, Joe G Dennis, George A R Wiggins, Daniel R Barnes, Bridget A Robinson, Peter D Mace, Kristiina Aittomäki, Irene L Andrulis, Banu K Arun, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Sami Belhadj, Lieke Berger, Marinus J Blok, Susanne E Boonen, Julika Borde, Angela R Bradbury, Joan Brunet, Saundra S Buys, Maria A Caligo, Ian G Campbell, Wendy K Chung, Kathleen B M Claes, null null, null null, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J Couch, Mary B Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M Domchek, Alan Donaldson, Jacqueline Eason, Douglas F Easton, Hans Ehrencrona, Christoph Engel, D Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A Gayther, Andrea Gehrig, Paul Gesta, Andrew K Godwin, David E Goldgar, Mark H Greene, Eric Hahnen, Christopher R Hake, Ute Hamann, Thomas V O Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J Hulick, Evgeny N Imyanitov, null null, null null, null null, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A James, Ramunas Janavicius, Esther M John, Joseph Vijai, Beth Y Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro Garcia, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L Mai, Siranoush Manoukian, Véronique Mari, John W M Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Ana Osorio, Claus-Eric Ott, Sue-Kyung Park, Michael T Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C Rodriguez, Karina Rønlund, Efraim H Rosenberg, Maria Rossing, Rita K Schmutzler, Payal D Shah, Saba Sharif, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R Teixeira, Soo-Hwang Teo, Mads Thomassen, Darcy L Thull, Marc Tischkowitz, Amanda Ewart Toland, Alison H Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J vanRensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N Weitzel, Marijke R Wevers, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Logan C Walker
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Communications biology 5 (1) (2022)
Gorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer, Flavia Leme de Calais, Pietro Ameri, Sangeetha Vijayakumar, Haydeliz Martinez-Ruiz, Francesca Damiola, Laure Barjhoux, Mads Thomassen, Lars V B Andersen, Carmen Herranz, Francesca Mateo, Luis Palomero, Roderic Espín, Antonio Gómez, Nadia García, Daniel Jimenez, Núria Bonifaci, Ana I Extremera, Julio Castaño, Angel Raya, Eduardo Eyras, Xose S Puente, Joan Brunet, Conxi Lázaro, null null, null null, Paolo Radice, Daniel R Barnes, Antonis C Antoniou, Amanda B Spurdle, Miguel de la Hoya, Diana Baralle, Mary Helen Barcellos-Hoff, Miguel Angel Pujana
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants. Human mutation 42 (11) (2021)
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Víctor Lorca, Alicia Gómez-Sanz, Sara Carvalho, Jamie Allen, Mar Infante, Pedro Pérez-Segura, Conxi Lázaro, Douglas F Easton, Peter Devilee, Maaike P G Vreeswijk, Miguel de la Hoya, Eladio A Velasco
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants. Cancers 13 (11) (2021)
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmaña, Elena Barbieri, Claus R Bartram, Ana Blanco, Britta Blümcke, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A Caligo, Mariarosaria Calvello, Gabriele L Capone, Sandrine M Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux-Moncoutier, Pietro Cavalli, Giulia Cini, Edward M Clarke, Paola Concolino, Elisa J Cops, Laura Cortesi, Fergus J Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Irmgard Debatin, Jesús Del Valle, Capucine Delnatte, Nicolas Derive, Orland Diez, Nina Ditsch, Susan M Domchek, Véronique Dutrannoy, Diana M Eccles, Hans Ehrencrona, Ute Enders, D Gareth Evans, Chantal Farra, Ulrike Faust, Ute Felbor, Irene Feroce, Miriam Fine, William D Foulkes, Henrique C R Galvao, Gaetana Gambino, Andrea Gehrig, Francesca Gensini, Anne-Marie Gerdes, Aldo Germani, Jutta Giesecke, Viviana Gismondi, Carolina Gómez, Encarna B Gómez Garcia, Sara González, Elia Grau, Sabine Grill, Eva Gross, Aliana Guerrieri-Gonzaga, Marine Guillaud-Bataille, Sara Gutiérrez-Enríquez, Thomas Haaf, Karl Hackmann, Thomas V O Hansen, Marion Harris, Jan Hauke, Tilman Heinrich, Heide Hellebrand, Karen N Herold, Ellen Honisch, Judit Horvath, Claude Houdayer, Verena Hübbel, Silvia Iglesias, Angel Izquierdo, Paul A James, Linda A M Janssen, Udo Jeschke, Silke Kaulfuß, Katharina Keupp, Marion Kiechle, Alexandra Kölbl, Sophie Krieger, Torben A Kruse, Anders Kvist, Fiona Lalloo, Mirjam Larsen, Vanessa L Lattimore, Charlotte Lautrup, Susanne Ledig, Elena Leinert, Alexandra L Lewis, Joanna Lim, Markus Loeffler, Adrià López-Fernández, Emanuela Lucci-Cordisco, Nicolai Maass, Siranoush Manoukian, Monica Marabelli, Laura Matricardi, Alfons Meindl, Rodrigo D Michelli, Setareh Moghadasi, Alejandro Moles-Fernández, Marco Montagna, Gemma Montalban, Alvaro N Monteiro, Eva Montes, Luigi Mori, Lidia Moserle, Clemens R Müller, Christoph Mundhenke, Nadia Naldi, Katherine L Nathanson, Matilde Navarro, Heli Nevanlinna, Cassandra B Nichols, Dieter Niederacher, Henriette R Nielsen, Kai-Ren Ong, Nicholas Pachter, Edenir I Palmero, Laura Papi, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez-Segura, Katharina Pfeifer, Marta Pineda, Esther Pohl-Rescigno, Nicola K Poplawski, Berardino Porfirio, Anne S Quante, Juliane Ramser, Rui M Reis, Françoise Revillion, Kerstin Rhiem, Barbara Riboli, Julia Ritter, Daniela Rivera, Paula Rofes, Andreas Rump, Monica Salinas, Ana María Sánchez de Abajo, Gunnar Schmidt, Ulrike Schoenwiese, Jochen Seggewiß, Ares Solanes, Doris Steinemann, Mathias Stiller, Dominique Stoppa-Lyonnet, Kelly J Sullivan, Rachel Susman, Christian Sutter, Sean V Tavtigian, Soo H Teo, Alex Teulé, Mads Thomassen, Maria Grazia Tibiletti, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Eva Tornero, Therese Törngren, Sara Torres-Esquius, Angela Toss, Alison H Trainer, Katherine M Tucker, Christi J van Asperen, Marion T van Mackelenbergh, Liliana Varesco, Gardenia Vargas-Parra, Raymonda Varon, Ana Vega, Ángela Velasco, Anne-Sophie Vesper, Alessandra Viel, Maaike P G Vreeswijk, Sebastian A Wagner, Anke Waha, Logan C Walker, Rhiannon J Walters, Shan Wang-Gohrke, Bernhard H F Weber, Wilko Weichert, Kerstin Wieland, Lisa Wiesmüller, Isabell Witzel, Achim Wöckel, Emma Roisin Woodward, Silke Zachariae, Valentina Zampiga, Christine Zeder-Göß, null null, Conxi Lázaro, Arcangela De Nicolo, Paolo Radice, Christoph Engel, Rita K Schmutzler, David E Goldgar, Amanda B Spurdle
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Human mutation 40 (9) (2020)
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Patricia Llovet, Beatriz Díez-Gómez, María José Caloca, Pedro Pérez-Segura, Eugenia Fraile-Bethencourt, Marta Colmena, Sara Carvalho, Jamie Allen, Douglas F Easton, Peter Devilee, Maaike P G Vreeswijk, Miguel de la Hoya, Eladio A Velasco
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene. Cancers 12 (12) (2020)
Romy L S Mesman, Fabienne M G R Calléja, Miguel de la Hoya, Peter Devilee, Christi J van Asperen, Harry Vrieling, Maaike P G Vreeswijk
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2. Genetics in medicine : official journal of the American College of Medical Genetics 22 (8) (2020)
Alejandra Tavera-Tapia, Miguel de la Hoya, Oriol Calvete, Paloma Martin-Gimeno, Victoria Fernández, José Antonio Macías, Beatriz Alonso, Luz Pombo, Carles de Diego, Rosario Alonso, Guillermo Pita, Alicia Barroso, Miguel Urioste, Trinidad Caldés, Joseph A Newman, Javier Benítez, Ana Osorio
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility. Human mutation 40 (5) (2019)
Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, null null, Alberto Valenzuela-Palomo, Eladio A Velasco, Melissa Southey, Maaike P G Vreeswijk, Peter Devilee, Anders Kvist, Amanda B Spurdle, Logan C Walker, Sophie Krieger, Miguel de la Hoya
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. Journal of medical genetics 56 (7) (2019)
Amanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, Melissa Brown, Leslie Burke, Miguel de la Hoya, Susan Domchek, Thilo Dörk, Helen V Firth, Alvaro N Monteiro, Arjen Mensenkamp, Michael T Parsons, Paolo Radice, Mark Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike Pg Vreeswijk, Logan C Walker, Sean Tavtigian, Diana M Eccles
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Journal of medical genetics 56 (6) (2019)
Rita D Brandão, Klaas Mensaert, Irene López-Perolio, Demis Tserpelis, Markos Xenakis, Vanessa L Lattimore, Logan C Walker, Anders Kvist, Ana Vega, Sara Gutiérrez-Enríquez, Orland Diez, null null, Miguel de la Hoya, Amanda B Spurdle, Tim De Meyer, Marinus J Blok
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. International journal of cancer 145 (2) (2019)

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Miguel de la Hoya