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Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients Serra-Llovich, Alexandre; Cullell, Natalia; Maronas, Olalla; Jose Herrero, Maria; Cruz, Raquel; Almoguera, Berta; Ayuso, Carmen; Lopez-Rodriguez, Rosario; Dominguez-Garrido, Elena; Ortiz-Lopez, Rocio; Barreda-Sanchez, Maria; Corton, Marta; Dalmau, David; Calbo, Esther; Boix-Palop, Lucia; Dietl, Beatriz; Sangil, Anna; Gil-Rodriguez, Almudena; Guillen-Navarro, Encarna; Mancebo, Esther; Lira-Albarran, Saul; Minguez, Pablo; Paz-Artal, Estela; Olivera, Gladys G.; Recarey-Rama, Sheila; Sendra, Luis; Zucchet, Enrique G.; Lopez de Heredia, Miguel; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Arranz, Maria J. Share Save
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Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome Totten, Vicken; Teixido-Tura, Gisela; Lopez-Grondona, Fermina; Fernandez-Alvarez, Paula; Lasa-Aranzasti, Amaia; Munoz-Cabello, Patricia; Kosaki, Rika; Tizzano, Eduardo F.; Dewals, Wendy; Borras, Emma; Canas, Elena Gonzalez; Almoguera, Berta; Loeys, Bart; Valenzuena, Irene Share Save
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M. Share Save
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients Martinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; Garcia-Minaur, Sixto; Mori, Maria Angeles; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-Del Pozo, Jaime; Fonz, Raquel Bernado; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; Blanco-Lago, Raquel; De Azua, Begona; Eiris, Jesus; Garcia-Penas, Juan Jose; Gil-Fournier, Belen; Gomez-Lado, Carmen; Irazabal, Nadia; Lopez-Gonzalez, Vanessa; Madrigal, Irene; Malaga, Ignacio; Martinez-Menendez, Beatriz; Ramiro-Leon, Soraya; Garcia-Hoyos, Maria; Prieto-Matos, Pablo; Lopez-Pison, Javier; Aguilera-Albesa, Sergio; Alvarez, Sara; Fernandez-Jaen, Alberto; Llano-Rivas, Isabel; Gener-Querol, Blanca; Ayuso, Carmen; Arteche-Lopez, Ana; Palomares-Bralo, Maria; Cueto-Gonzalez, Anna; Valenzuela, Irene; Martinez-Monseny, Antonio; Lorda-Sanchez, Isabel; Almoguera, Berta Share Save
Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study Lopez-Rodriguez, Rosario; Ruiz-Hornillos, Javier; Corton, Marta; Almoguera, Berta; Minguez, Pablo; Elena Perez-Tomas, Maria; Barreda-Sanchez, Maria; Mancebo, Esther; Ondo, Lorena; Martinez-Ramas, Andrea; Fernandez-Caballero, Lidia; Carlos Taracido-Fernandez, Juan; Herrero-Gonzalez, Antonio; Mahillo, Ignacio; Paz-Artal, Estela; Guillen-Navarro, Encarna; Ayuso, Carmen Share Save
Five years' experience of the clinical exome sequencing in a Spanish single center Arteche-Lopez, A.; Avila-Fernandez, A.; Riveiro Alvarez, R.; Almoguera, B.; Bustamante Aragones, A.; Martin-Merida, I; Lopez Martinez, M. A.; Gimenez Pardo, A.; Velez-Monsalve, C.; Gallego Merlo, J.; Garcia Vara, I; Blanco-Kelly, F.; Tahsin Swafiri, S.; Lorda Sanchez, I; Trujillo Tiebas, M. J.; Ayuso, C. Share Save
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years Del Pozo-Valero, Marta; Corton, Marta; Lopez-Rodriguez, Rosario; Mahillo-Fernandez, Ignacio; Ruiz-Hornillos, Javier; Minguez, Pablo; Villaverde, Cristina; Elena Perez-Tomas, Maria; Barreda-Sanchez, Maria; Mancebo, Esther; Paz-Artal, Estela; Guillen-Navarro, Encarna; Almoguera, Berta; Ayuso, Carmen Share Save
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19 Lopez-Rodriguez, Rosario; del Pozo-Valero, Marta; Corton, Marta; Minguez, Pablo; Ruiz-Hornillos, Javier; Elena Perez-Tomas, Maria; Barreda-Sanchez, Maria; Mancebo, Esther; Villaverde, Cristina; Nunez-Moreno, Gonzalo; Romero, Raquel; Paz-Artal, Estela; Guillen-Navarro, Encarna; Almoguera, Berta; Ayuso, Carmen Share Save
Novel genes and sex differences in COVID-19 severity Cruz, Raquel; Diz-de Almeida, Silvia; Lopez de Heredia, Miguel; Quintela, Ines; Ceballos, Francisco C.; Lorenzo-Salazar, Guillermo M.; Gonzalez-Montelongo, Rafaela; Gago-Dominguez, Manuela; Sevilla Porras, Marta; Tenorio Castano, Jair Antonio; Nevado, Julian; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Almadana, Virginia; Almoguera, Berta; Alvarez, Nuria; Andreu-Bernabeu, Alvaro; Arana-Arri, Eunate; Arango, Celso; Arranz, Maria J.; Artiga, Maria-Jesus; Baptista-Rosas, Raul C.; Barreda-Sanchez, Maria; Belhassen-Garcia, Moncef; Bezerra, Joao F.; Bezerra, Marcos A. C.; Boix-Palop, Lucia; Brion, Maria; Brugada, Ramon; Bustos, Matilde; Calderon, Enrique J.; Carbonell, Cristina; Castano, Luis; Castelao, Jose E.; Conde-Vicente, Rosa; Cordero-Lorenzana, M. Lourdes; Cortes-Sanchez, Jose L.; Corton, Marta; Darnaude, M. Teresa; De Martino-Rodriguez, Alba; del Campo-Perez, Victor; Diaz de Bustamante, Aranzazu; Dominguez-Garrido, Elena; Luchessi, Andre D.; Eiros, Rocio; Estigarribia Sanabria, Gladys Mercedes; Carmen Farinas, Maria; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Villa, Tania; Gil-Fournier, Belen; Gomez-Arrue, Javier; Gonzalez Alvarez, Beatriz; Gonzalez Bernaldo de Quiros, Fernan; Gonzalez-Penas, Javier; Gutierrez-Bautista, Juan F.; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Jimenez-Sousa, Maria A.; Claudia Lattig, Maria; Liger Borja, Anabel; Lopez-Rodriguez, Rosario; Mancebo, Esther; Martin-Lopez, Caridad; Martin, Vicente; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez-Perez, Angel; Mazzeu, Juliana F.; Merayo Macias, Eleuterio; Minguez, Pablo; Moreno Cuerda, Victor; Silbiger, Vivian N.; Oliveira, Silviene F.; Ortega-Paino, Eva; Parellada, Mara; Paz-Artal, Estela; Santos, Ney P. C.; Perez-Matute, Patricia; Perez, Patricia; Perez-Tomas, M. Elena; Perucho, Teresa; Pinsach-Abuin, Mel Lina; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Ramiro Leon, Soraya; Resino, Salvador; Fernandes, Marianne R.; Rodriguez-Ruiz, Emilio; Rodriguez-Artalejo, Fernando; Rodriguez-Garcia, Jose A.; Ruiz Cabello, Francisco; Ruiz-Hornillos, Javier; Ryan, Pablo; Soria, Jose Manuel; Souto, Juan Carlos; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Teper, Alejandro; Torres-Tobar, Lilian; Urioste, Miguel; Valencia-Ramos, Juan; Yanez, Zuleima; Zarate, Ruth; Nakanishi, Tomoko; Pigazzini, Sara; Degenhardt, Frauke; Butler-Laporte, Guillaume; Maya-Miles, Douglas; Bujanda, Luis; Bouysran, Youssef; Palom, Adriana; Ellinghaus, David; Martinez-Bueno, Manuel; Rolker, Selina; Amitrano, Sara; Roade, Luisa; Fava, Francesca; Spinner, Christoph D.; Prati, Daniele; Bernardo, David; Garcia, Federico; Darcis, Gilles; Fernandez-Cadenas, Israel; Holter, Jan Cato; Banales, Jesus M.; Frithiof, Robert; Duga, Stefano; Asselta, Rosanna; Pereira, Alexandre C.; Romero-Gomez, Manuel; Nafria-Jimenez, Beatriz; Hov, Johannes R.; Migeotte, Isabelle; Renieri, Alessandra; Planas, Anna M.; Ludwig, Kerstin U.; Buti, Maria; Rahmouni, Souad; Alarcon-Riquelme, Marta E.; Schulte, Eva C.; Franke, Andre; Karlsen, Tom H.; Valenti, Luca; Zeberg, Hugo; Richards, Brent; Ganna, Andrea; Boada, Merce; de Rojas, Itziar; Ruiz, Agustin; Sanchez-Juan, Pascual; Miguel Real, Luis; Guillen-Navarro, Encarna; Ayuso, Carmen; Gonzalez-Neira, Anna; Riancho, Jose A.; Rojas-Martinez, Augusto; Flores, Carlos; Lapunzina, Pablo; Carracedo, Angel Share Save
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (vol 11, pg 1526, 2021) Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreno, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Perez de Ayala, Lucia; Riveiro-Alvarez, Rosa; Rodriguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria J.; Garcia-Sandoval, Blanca; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Ayuso, Carmen Share Save
IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts Utrero-Rico, Alberto; Ruiz-Hornillos, Javier; Gonzalez-Cuadrado, Cecilia; Rita, Claudia Geraldine; Almoguera, Berta; Minguez, Pablo; Herrero-Gonzalez, Antonio; Fernandez-Ruiz, Mario; Carretero, Octavio; Carlos Taracido-Fernandez, Juan; Lopez-Rodriguez, Rosario; Corton, Marta; Maria Aguado, Jose; Maria Villar, Luisa; Ayuso-Garcia, Carmen; Paz-Artal, Estela; Laguna-Goya, Rocio Share Save
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes Arteche-Lopez, A.; Avila-Fernandez, A.; Romero, R.; Riveiro-Alvarez, R.; Lopez-Martinez, M. A.; Gimenez-Pardo, A.; Velez-Monsalve, C.; Gallego-Merlo, J.; Garcia-Vara, I; Almoguera, Berta; Bustamante-Aragones, A.; Blanco-Kelly, F.; Tahsin-Swafiri, S.; Rodriguez-Pinilla, E.; Minguez, P.; Lorda, I; Trujillo-Tiebas, M. J.; Ayuso, C. Share Save
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreno, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Perez de Ayala, Lucia; Riveiro-Alvarez, Rosa; Rodriguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria J.; Garcia-Sandoval, Blanca; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Ayuso, Carmen Share Save
Genome-wide association analysis of psoriasis patients treated with anti-TNF drugs Ovejero-Benito, Maria C.; Munoz-Aceituno, Ester; Sabador, David; Almoguera, Berta; Prieto-Perez, Rocio; Hakonarson, Hakon; Coto-Segura, Pablo; Carretero, Gregorio; Reolid, Alejandra; Llamas-Velasco, Mar; Abad-Santos, Francisco; Dauden, Esteban Share Save
Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study Hu, Yao; Graff, Mariaelisa; Haessler, Jeffrey; Buyske, Steven; Bien, Stephanie A.; Tao, Ran; Highland, Heather M.; Nishimura, Katherine K.; Zubair, Niha; Lu, Yingchang; Verbanck, Marie; Hilliard, Austin T.; Klarin, Derek; Damrauer, Scott M.; Ho, Yuk-Lam; Wilson, Peter W. F.; Chang, Kyong-Mi; Tsao, Philip S.; Cho, Kelly; O'Donnell, Christopher J.; Assimes, Themistocles L.; Petty, Lauren E.; Below, Jennifer E.; Dikilitas, Ozan; Schaid, Daniel J.; Kosel, Matthew L.; Kullo, Iftikhar J.; Rasmussen-Torvik, Laura J.; Jarvik, Gail P.; Feng, Qiping; Wei, Wei-Qi; Larson, Eric B.; Mentch, Frank D.; Almoguera, Berta; Sleiman, Patrick M.; Raffield, Laura M.; Correa, Adolfo; Martin, Lisa W.; Daviglus, Martha; Matise, Tara C.; Ambite, Jose Luis; Carlson, Christopher S.; Do, Ron; Loos, Ruth J. F.; Wilkens, Lynne R.; Le Marchand, Loic; Haiman, Chris; Stram, Daniel O.; Hindorff, Lucia A.; North, Kari E.; Kooperberg, Charles; Cheng, Iona; Peters, Ulrike Share Save
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