Defining functional distances over Gene Ontology

por del Pozo, Angela, Pazos, Florencio, Valencia, Alfonso
Publicado 2008

Prioritization of pathogenic mutations in the protein kinase superfamily

por Izarzugaza, Jose MG, del Pozo, Angela, Vazquez, Miguel, Valencia, Alfonso
Publicado 2012

wKinMut: An integrated tool for the analysis and interpretation of mutations in human protein kinases

por Izarzugaza, Jose MG, Vazquez, Miguel, del Pozo, Angela, Valencia, Alfonso
Publicado 2013

The potential clinical impact of the release of two drafts of the human proteome

por Ezkurdia, Iakes, Calvo, Enrique, Del Pozo, Angela, Vázquez, Jesús, Valencia, Alfonso, Tress, Michael L.
Publicado 2015

Comparative Proteomics Reveals a Significant Bias Toward Alternative Protein Isoforms with Conserved Structure and Function

por Ezkurdia, Iakes, del Pozo, Angela, Frankish, Adam, Rodriguez, Jose Manuel, Harrow, Jennifer, Ashman, Keith, Valencia, Alfonso, Tress, Michael L.
Publicado 2012

Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level

por Abascal, Federico, Ezkurdia, Iakes, Rodriguez-Rivas, Juan, Rodriguez, Jose Manuel, del Pozo, Angela, Vázquez, Jesús, Valencia, Alfonso, Tress, Michael L.
Publicado 2015

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

por Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Publicado 2021

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

por Fernández-Alcalde, Celia, Nieves-Moreno, María, Noval, Susana, Peralta, Jesús M., Montaño, Victoria E. F., del Pozo, Ángela, Santos-Simarro, Fernando, Vallespín, Elena
Publicado 2021

Chimeras taking shape: Potential functions of proteins encoded by chimeric RNA transcripts

por Frenkel-Morgenstern, Milana, Lacroix, Vincent, Ezkurdia, Iakes, Levin, Yishai, Gabashvili, Alexandra, Prilusky, Jaime, del Pozo, Angela, Tress, Michael, Johnson, Rory, Guigo, Roderic, Valencia, Alfonso
Publicado 2012

A new variant in PHKA2 is associated with glycogen storage disease type IXa

por Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia
Publicado 2017

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

por García, Marta, Barreda-Bonis, Ana C, Jiménez, Paula, Rabanal, Ignacio, Ortiz, Arancha, Vallespín, Elena, del Pozo, Ángela, Martínez-San Millán, Juan, González-Casado, Isabel, Moreno, José C
Publicado 2018

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

por Arruti, Natalia, Rodríguez-Solana, Patricia, Nieves-Moreno, María, Guerrero-Carretero, Marta, del Pozo, Ángela, Montaño, Victoria E. F., Santos-Simarro, Fernando, Rikeros-Orozco, Emi, Delgado-Mora, Luna, Vallespín, Elena, Noval, Susana
Publicado 2023

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

por González-Iglesias, Eva, López-Vázquez, Ana, Noval, Susana, Nieves-Moreno, María, Granados-Fernández, María, Arruti, Natalia, Rosa-Pérez, Irene, Pacio-Míguez, Marta, Montaño, Victoria E. F., Rodríguez-Solana, Patricia, del Pozo, Angela, Santos-Simarro, Fernando, Vallespín, Elena
Publicado 2022

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

por Rodriguez-Laguna, Lara, Agra, Noelia, Ibañez, Kristina, Oliva-Molina, Gloria, Gordo, Gema, Khurana, Noor, Hominick, Devon, Beato, María, Colmenero, Isabel, Herranz, Gonzalo, Torres Canizalez, Juan M., Rodríguez Pena, Rebeca, Vallespín, Elena, Martín-Arenas, Rubén, del Pozo, Ángela, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Lapunzina, Pablo, Lopez-Gutierrez, Juan C., Dellinger, Michael T., Martinez-Glez, Victor
Publicado 2019

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

por Rodríguez-Solana, Patricia, Arruti, Natalia, Nieves-Moreno, María, Mena, Rocío, Rodríguez-Jiménez, Carmen, Guerrero-Carretero, Marta, Acal, Juan Carlos, Blasco, Joana, Peralta, Jesús M., Del Pozo, Ángela, Montaño, Victoria E. F., Dios-Blázquez, Lucía De, Fernández-Alcalde, Celia, González-Atienza, Carmen, Sánchez-Cazorla, Eloísa, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Noval, Susana, Vallespín, Elena
Publicado 2023

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

por Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Publicado 2016

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

por Sánchez-Cazorla, Eloísa, González-Atienza, Carmen, López-Vázquez, Ana, Arruti, Natalia, Nieves-Moreno, María, Noval, Susana, Mena, Rocío, Rodríguez-Jiménez, Carmen, Rodríguez-Solana, Patricia, González-Iglesias, Eva, Guerrero-Carretero, Marta, D’Anna Mardero, Oriana, Coca-Robinot, Javier, Acal, Juan Carlos, Blasco, Joana, Castañeda, Carlos, Fraile Maya, Jesús, Del Pozo, Ángela, Gómez-Pozo, María V., Montaño, Victoria E. F., Dios-Blázquez, Lucía De, Rodríguez-Antolín, Carlos, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Vallespín, Elena
Publicado 2023

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

por Jones, Wendell, Gong, Binsheng, Novoradovskaya, Natalia, Li, Dan, Kusko, Rebecca, Richmond, Todd A., Johann, Donald J., Bisgin, Halil, Sahraeian, Sayed Mohammad Ebrahim, Bushel, Pierre R., Pirooznia, Mehdi, Wilkins, Katherine, Chierici, Marco, Bao, Wenjun, Basehore, Lee Scott, Lucas, Anne Bergstrom, Burgess, Daniel, Butler, Daniel J., Cawley, Simon, Chang, Chia-Jung, Chen, Guangchun, Chen, Tao, Chen, Yun-Ching, Craig, Daniel J., del Pozo, Angela, Foox, Jonathan, Francescatto, Margherita, Fu, Yutao, Furlanello, Cesare, Giorda, Kristina, Grist, Kira P., Guan, Meijian, Hao, Yingyi, Happe, Scott, Hariani, Gunjan, Haseley, Nathan, Jasper, Jeff, Jurman, Giuseppe, Kreil, David Philip, Łabaj, Paweł, Lai, Kevin, Li, Jianying, Li, Quan-Zhen, Li, Yulong, Li, Zhiguang, Liu, Zhichao, López, Mario Solís, Miclaus, Kelci, Miller, Raymond, Mittal, Vinay K., Mohiyuddin, Marghoob, Pabón-Peña, Carlos, Parsons, Barbara L., Qiu, Fujun, Scherer, Andreas, Shi, Tieliu, Stiegelmeyer, Suzy, Suo, Chen, Tom, Nikola, Wang, Dong, Wen, Zhining, Wu, Leihong, Xiao, Wenzhong, Xu, Chang, Yu, Ying, Zhang, Jiyang, Zhang, Yifan, Zhang, Zhihong, Zheng, Yuanting, Mason, Christopher E., Willey, James C., Tong, Weida, Shi, Leming, Xu, Joshua
Publicado 2021

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

por Gong, Binsheng, Li, Dan, Kusko, Rebecca, Novoradovskaya, Natalia, Zhang, Yifan, Wang, Shangzi, Pabón-Peña, Carlos, Zhang, Zhihong, Lai, Kevin, Cai, Wanshi, LoCoco, Jennifer S., Lader, Eric, Richmond, Todd A., Mittal, Vinay K., Liu, Liang-Chun, Johann, Donald J., Willey, James C., Bushel, Pierre R., Yu, Ying, Xu, Chang, Chen, Guangchun, Burgess, Daniel, Cawley, Simon, Giorda, Kristina, Haseley, Nathan, Qiu, Fujun, Wilkins, Katherine, Arib, Hanane, Attwooll, Claire, Babson, Kevin, Bao, Longlong, Bao, Wenjun, Lucas, Anne Bergstrom, Best, Hunter, Bhandari, Ambica, Bisgin, Halil, Blackburn, James, Blomquist, Thomas M., Boardman, Lisa, Burgher, Blake, Butler, Daniel J., Chang, Chia-Jung, Chaubey, Alka, Chen, Tao, Chierici, Marco, Chin, Christopher R., Close, Devin, Conroy, Jeffrey, Coleman, Jessica Cooley, Craig, Daniel J., Crawford, Erin, del Pozo, Angela, Deveson, Ira W., Duncan, Daniel, Eterovic, Agda Karina, Fan, Xiaohui, Foox, Jonathan, Furlanello, Cesare, Ghosal, Abhisek, Glenn, Sean, Guan, Meijian, Haag, Christine, Hang, Xinyi, Happe, Scott, Hennigan, Brittany, Hipp, Jennifer, Hong, Huixiao, Horvath, Kyle, Hu, Jianhong, Hung, Li-Yuan, Jarosz, Mirna, Kerkhof, Jennifer, Kipp, Benjamin, Kreil, David Philip, Łabaj, Paweł, Lapunzina, Pablo, Li, Peng, Li, Quan-Zhen, Li, Weihua, Li, Zhiguang, Liang, Yu, Liu, Shaoqing, Liu, Zhichao, Ma, Charles, Marella, Narasimha, Martín-Arenas, Rubén, Megherbi, Dalila B., Meng, Qingchang, Mieczkowski, Piotr A., Morrison, Tom, Muzny, Donna, Ning, Baitang, Parsons, Barbara L., Paweletz, Cloud P., Pirooznia, Mehdi, Qu, Wubin, Raymond, Amelia, Rindler, Paul, Ringler, Rebecca, Sadikovic, Bekim, Scherer, Andreas, Schulze, Egbert, Sebra, Robert, Shaknovich, Rita, Shi, Qiang, Shi, Tieliu, Silla-Castro, Juan Carlos, Smith, Melissa, López, Mario Solís, Song, Ping, Stetson, Daniel, Strahl, Maya, Stuart, Alan, Supplee, Julianna, Szankasi, Philippe, Tan, Haowen, Tang, Lin-ya, Tao, Yonghui, Thakkar, Shraddha, Thierry-Mieg, Danielle, Thierry-Mieg, Jean, Thodima, Venkat J., Thomas, David, Tichý, Boris, Tom, Nikola, Garcia, Elena Vallespin, Verma, Suman, Walker, Kimbley, Wang, Charles, Wang, Junwen, Wang, Yexun, Wen, Zhining, Wirta, Valtteri, Wu, Leihong, Xiao, Chunlin, Xiao, Wenzhong, Xu, Shibei, Yang, Mary, Ying, Jianming, Yip, Shun H., Zhang, Guangliang, Zhang, Sa, Zhao, Meiru, Zheng, Yuanting, Zhou, Xiaoyan, Mason, Christopher E., Mercer, Timothy, Tong, Weida, Shi, Leming, Jones, Wendell, Xu, Joshua
Publicado 2021

An expanded evaluation of protein function prediction methods shows an improvement in accuracy

por Jiang, Yuxiang, Oron, Tal Ronnen, Clark, Wyatt T., Bankapur, Asma R., D’Andrea, Daniel, Lepore, Rosalba, Funk, Christopher S., Kahanda, Indika, Verspoor, Karin M., Ben-Hur, Asa, Koo, Da Chen Emily, Penfold-Brown, Duncan, Shasha, Dennis, Youngs, Noah, Bonneau, Richard, Lin, Alexandra, Sahraeian, Sayed M. E., Martelli, Pier Luigi, Profiti, Giuseppe, Casadio, Rita, Cao, Renzhi, Zhong, Zhaolong, Cheng, Jianlin, Altenhoff, Adrian, Skunca, Nives, Dessimoz, Christophe, Dogan, Tunca, Hakala, Kai, Kaewphan, Suwisa, Mehryary, Farrokh, Salakoski, Tapio, Ginter, Filip, Fang, Hai, Smithers, Ben, Oates, Matt, Gough, Julian, Törönen, Petri, Koskinen, Patrik, Holm, Liisa, Chen, Ching-Tai, Hsu, Wen-Lian, Bryson, Kevin, Cozzetto, Domenico, Minneci, Federico, Jones, David T., Chapman, Samuel, BKC, Dukka, Khan, Ishita K., Kihara, Daisuke, Ofer, Dan, Rappoport, Nadav, Stern, Amos, Cibrian-Uhalte, Elena, Denny, Paul, Foulger, Rebecca E., Hieta, Reija, Legge, Duncan, Lovering, Ruth C., Magrane, Michele, Melidoni, Anna N., Mutowo-Meullenet, Prudence, Pichler, Klemens, Shypitsyna, Aleksandra, Li, Biao, Zakeri, Pooya, ElShal, Sarah, Tranchevent, Léon-Charles, Das, Sayoni, Dawson, Natalie L., Lee, David, Lees, Jonathan G., Sillitoe, Ian, Bhat, Prajwal, Nepusz, Tamás, Romero, Alfonso E., Sasidharan, Rajkumar, Yang, Haixuan, Paccanaro, Alberto, Gillis, Jesse, Sedeño-Cortés, Adriana E., Pavlidis, Paul, Feng, Shou, Cejuela, Juan M., Goldberg, Tatyana, Hamp, Tobias, Richter, Lothar, Salamov, Asaf, Gabaldon, Toni, Marcet-Houben, Marina, Supek, Fran, Gong, Qingtian, Ning, Wei, Zhou, Yuanpeng, Tian, Weidong, Falda, Marco, Fontana, Paolo, Lavezzo, Enrico, Toppo, Stefano, Ferrari, Carlo, Giollo, Manuel, Piovesan, Damiano, Tosatto, Silvio C.E., del Pozo, Angela, Fernández, José M., Maietta, Paolo, Valencia, Alfonso, Tress, Michael L., Benso, Alfredo, Di Carlo, Stefano, Politano, Gianfranco, Savino, Alessandro, Rehman, Hafeez Ur, Re, Matteo, Mesiti, Marco, Valentini, Giorgio, Bargsten, Joachim W., van Dijk, Aalt D. J., Gemovic, Branislava, Glisic, Sanja, Perovic, Vladmir, Veljkovic, Veljko, Veljkovic, Nevena, Almeida-e-Silva, Danillo C., Vencio, Ricardo Z. N., Sharan, Malvika, Vogel, Jörg, Kansakar, Lakesh, Zhang, Shanshan, Vucetic, Slobodan, Wang, Zheng, Sternberg, Michael J. E., Wass, Mark N., Huntley, Rachael P., Martin, Maria J., O’Donovan, Claire, Robinson, Peter N., Moreau, Yves, Tramontano, Anna, Babbitt, Patricia C., Brenner, Steven E., Linial, Michal, Orengo, Christine A., Rost, Burkhard, Greene, Casey S., Mooney, Sean D., Friedberg, Iddo, Radivojac, Predrag
Publicado 2016