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Luis A. Pérez‐Jurado
instituto de salud carlos iii
53H-index
206Paper Count
8.6KCitation Count
Published Papers 96
Publication Date
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- Citations
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Diagnostic yield of chromosomal microarray and virtual targeted gene panel analysis in adults with focal epilepsy: implications for sequential genetic testing strategy.png)
2026-02-25
0
Luísa Panadés-de Oliveira; Marta Salido Galeote; Eva Prado Duran; Laura Vilella; Adriana Celdrán de Castro García; Alessandro Principe; Anna Maria Puiggros Metje; Ivon Cuscó Martí; Luis A. Pérez-Jurado; Riccardo Zucca; Susana Boronat; Rodrigo Rocamora
2026-02-250PREAI
Luísa Panadés-de Oliveira; Marta Salido Galeote; Eva Prado Duran; Laura Vilella; Adriana Celdrán de Castro García; Alessandro Principe; Anna Maria Puiggros Metje; Ivon Cuscó Martí; Luis A. Pérez-Jurado; Riccardo Zucca; Susana Boronat; Rodrigo Rocamora.png){kind=icon}
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SaveEarly-onset extensive seborrhoeic keratoses in the spectrum of familial acanthosis nigricans2025-08-010Pesque, David; Bellosillo, Beatriz; March-Rodriguez, Alvaro; Abreu-Rodriguez, Irene; Perez-Jurado, Luis A.; Pujol, Ramon M.
2025-08-010PREAI
Pesque, David; Bellosillo, Beatriz; March-Rodriguez, Alvaro; Abreu-Rodriguez, Irene; Perez-Jurado, Luis A.; Pujol, Ramon M.ShareSaveDefective X-chromosome inactivation and cancer risk in women2025-02-220
OAAICaceres, Alejandro; Perez-Jurado, Luis A.; Alegret-Garcia, Albert; Dwaraka, Varun B.; Smith, Ryan; Gonzalez, Juan R.
2025-02-220OAAICaceres, Alejandro; Perez-Jurado, Luis A.; Alegret-Garcia, Albert; Dwaraka, Varun B.; Smith, Ryan; Gonzalez, Juan R.ShareSaveAn intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype2024-11-010
OAAILucia-Campos, Cristina; Parenti, Ilaria; Latorre-Pellicer, Ana; Gil-Salvador, Marta; Bestetti, Ilaria; Finelli, Palma; Larizza, Lidia; Arnedo, Maria; Ayerza-Casas, Ariadna; Del Rincon, Julia; Trujillano, Laura; Morte, Beatriz; Perez-Jurado, Luis A.; Lapunzina, Pablo; Leitao, Elsa; Beygo, Jasmin; Lich, Christina; Kilpert, Fabian; Kaya, Sabine; Depienne, Christel; Kaiser, Frank J.; Ramos, Feliciano J.; Puisac, Beatriz; Pie, Juan
2024-11-010OAAILucia-Campos, Cristina; Parenti, Ilaria; Latorre-Pellicer, Ana; Gil-Salvador, Marta; Bestetti, Ilaria; Finelli, Palma; Larizza, Lidia; Arnedo, Maria; Ayerza-Casas, Ariadna; Del Rincon, Julia; Trujillano, Laura; Morte, Beatriz; Perez-Jurado, Luis A.; Lapunzina, Pablo; Leitao, Elsa; Beygo, Jasmin; Lich, Christina; Kilpert, Fabian; Kaya, Sabine; Depienne, Christel; Kaiser, Frank J.; Ramos, Feliciano J.; Puisac, Beatriz; Pie, JuanShareSaveA Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.png)
CELLS2024-08-301OAAIZykaj, Erta; Abboud, Chelsea; Asadi, Paria; Warsame, Simane; Almousa, Hashem; Milev, Miroslav P.; Greco, Brittany M.; Lopez-Sanchez, Marcos; Bratkovic, Drago; Kachroo, Aashiq H.; Perez-Jurado, Luis Alberto; Sacher, Michael
CELLSIF5.2
2024-08-301OAAIZykaj, Erta; Abboud, Chelsea; Asadi, Paria; Warsame, Simane; Almousa, Hashem; Milev, Miroslav P.; Greco, Brittany M.; Lopez-Sanchez, Marcos; Bratkovic, Drago; Kachroo, Aashiq H.; Perez-Jurado, Luis Alberto; Sacher, MichaelShareSaveNarrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortGENETICS IN MEDICINE2024-05-012Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony
GENETICS IN MEDICINEIF6.2
2024-05-012PREAI
Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, TonyShareSaveNetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencodersNUCLEIC ACIDS RESEARCH2024-04-100OAAIRuiz-Arenas, Carlos; Marin-Goni, Irene; Wang, Liewei; Ochoa, Idoia; Perez-Jurado, Luis A.; Hernaez, Mikel
NUCLEIC ACIDS RESEARCHIF13.1
2024-04-100OAAIRuiz-Arenas, Carlos; Marin-Goni, Irene; Wang, Liewei; Ochoa, Idoia; Perez-Jurado, Luis A.; Hernaez, MikelShareSaveMacrocheilia as an Atypical Clinical Presentation of Capillary Malformation-Arteriovenous Malformation Type 2JAMA DERMATOLOGY2024-04-010Rovira-Lopez, Roger; Perez-Jurado, Luis A.; Pujol, Ramon M.
JAMA DERMATOLOGYIF11
2024-04-010PREAI
Rovira-Lopez, Roger; Perez-Jurado, Luis A.; Pujol, Ramon M.ShareSaveClonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-22024-02-1986OAAIPerez-Jurado, Luis A.; Caceres, Alejandro; Balague-Dobon, Laura; Esko, Tonu; de Heredia, Miguel Lopez; Quintela, Ines; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Angel; Abellan, Javier; Acosta-Isaac, Rene; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Ahmadi Sabbagh, Abdolah; Alba, Jorge; Albu, Sergiu; Alcala-Gallardo, Karla A. M.; Alcoba-Florez, Julia; Alcolea Batres, Sergio; Rafael Algarin-Lara, Holmes; Almadana, Virginia; Medeiros, Kelliane A.; Almeida, Julia; Almoguera, Berta; Alonso, Maria R.; Alvarez, Nuria; Alvarez-Sala Walther, Rodolfo; Alvarez-Benitez, Yady; Alvarez-Navia, Felipe; dos Santos, Katiusse A.; Andreu-Bernabeu, Alvaro; Rosa Antonijoan, Maria; Martinez-Aquino, Eleno; Arana-Arri, Eunate; Aranda, Carlos; Arango, Celso; Araque, Carolina; Araujo, Nathalia K.; Arcanjo, Ana C.; Arnaiz, Ana; Arnalich Fernandez, Francisco; Arranz, Maria J.; Arribas Lopez, Jose Ramon; Artiga, Maria-Jesus; Avello-Malaver, Yubelly; Ayuso, Carmen; Ballina Martin, Belen; Baptista-Rosas, Raul C.; Maria Baldion, Ana; Barranco-Diaz, Andrea; Barreda-Sanchez, Maria; Barrera-Penagos, Viviana; Belhassen-Garcia, Moncef; Bernal-Bello, David; Bernal, Enrique; Bezerra, Joao F.; Bezerra, Marcos A. C.; Blanca-Lopez, Natalia; Blancas, Rafael; Boix-Palop, Lucia; Borobia, Alberto; Bravo, Elsa; Brion, Maria; Brochado-Kith, Oscar; Brugada, Ramon; Bustos, Matilde; Cabello, Alfonso; Caceres, Alejandro; Caceres-Agra, Juan J.; Calbo, Esther; Calderon, Enrique J.; Camacho, Shirley; Ceballos, Francisco C.; Canadas, Yolanda; Carbonell, Cristina; Cardona-Huerta, Servando; Sanchez-Carpintero Abad, Maria; Carpio Segura, Carlos; Antonio Carrillo-Avila, Jose; Campos, Marcela C.; Casasnovas, Carlos; Castano, Luis; Castano, Carlos F.; Castelao, Jose E.; Castellano Candalija, Aranzazu; Castillo, Maria A.; Chaves-Santiago, Walter G.; Chiquillo-Gomez, Sylena; Cid-Lopez, Marco A.; Cienfuegos-Jimenez, Oscar; Conde-Vicente, Rosa; Cunha, Gabriela C. R.; Lourdes Cordero-Lorenzana, M.; Corella, Dolores; Corrales, Almudena; Cortes-Sanchez, Jose L.; Corton, Marta; Souza, Karla S. C.; Silva, Fabiola T. C.; Cruz, Raquel; Cuesta, Luisa; Tavares, Nathali A. C.; Carvalho, Maria C. C.; Dalmau, David; Dantas-Komatsu, Raquel C. S.; Teresa Darnaude, M.; de Andres, Raimundo; de Juan, Carmen; de la Cruz Troca, Juan J.; de la Horra, Carmen; de la Hoz, Ana B.; De Martino-Rodriguez, Alba; Cruz, Marina S.; de Sousa Alves Neri, Julianna Lys; del Campo-Perez, Victor; Delgado-Cuesta, Juan; Diaz de Bustamante, Aranzazu; Diaz-Perez, Anderson; Dietl, Beatriz; Diz-de Almeida, Silvia; Alves, Manoella do Monte; Dominguez-Garrido, Elena; Rosa, Lidia S.; Luchessi, Andre D.; Echave-Sustaeta, Jose; Eiros, Rocio; Enciso-Olivera, Cesar O.; Escudero, Gabriela; Pablo Espana, Pedro; Estigarribia Sanabria, Gladys; Carmen Farinas, Maria; Fernandez, Ramon; Fernandez-Caballero, Lidia; Fernandez-Cruz, Ana; Fernandez-Ferrero, Silvia; Fernandez Martinez, Yolanda; Fernandez-Nestosa, Maria J.; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Sampedro, Marta; Fernandez, Ruth; Fernandez-Villa, Tania; Fernandez-Capitan, Carmen; Carioca, Antonio Augusto F.; Flores-Perez, Patricia; Fuenmayor-Hernandez, Lacides; Fuertes-Nunez, Marta; Fumado, Victoria; Gadea, Ignacio; Gagliardi, Lidia; Gago-Dominguez, Manuela; Gallego, Natalia; Galoppo, Cristina; Garcia-Soidan, Ana; Garcia-Cerrada, Carlos; Garcia-de-Vicuna, Aitor; Garcia-Garcia, Josefina; Garcia-Garcia, Irene; Garcia-Ibarbia, Carmen; Garcia-Montero, Andres C.; Garcia, Leticia; Garcia, Mercedes; Garcia Torrejon, Maria Carmen; Garcia, Ines; Garcia-Vazquez, Elisa; Garza-Frias, Emiliano; Gentile, Angela; Gil-Fournier, Belen; de Araujo, Jessica N. G.; Gomez-Duque, Mario; Gomez-Arrue, Javier; Gomez Carrera, Luis; Gomez Garcia, Maria; Gomez Sacristan, Angela; Gonzalez, Juan R.; Gonzalez-Neira, Anna; Gonzalez Alvarez, Beatriz; Bernaldo de Quiros, Fernan Gonzalez; Gonzalez-Montelongo, Rafaela; Gonzalez-Penas, Javier; Gonzalez-Sagrado, Manuel; Gonzalo-Benito, Hugo; Gorgojo-Galindo, Oscar; Gorgolas, Miguel; Guaragna, Florencia; Chaux, Jessica G.; Guillen-Navarro, Encarna; Guillen-Guio, Beatriz; Guisado-Vasco, Pablo; Gutierrez-Castaneda, Luz D.; Gutierrez-Bautista, Juan F.; Heili-Frades, Sara; Jacomo, Rafael H.; Hernandez, Estefania; Hernandez-Moro, Cristina; Hernandez-Ortega, Luis D.; Hernandez-Perez, Guillermo; Hernandez-Vaquero, Rebeca; Herraez, Belen; Teresa Herranz, M.; Herrera, Maria; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Horcajada, Juan P.; Imaz-Ayo, Natale; Intxausti-Urrutibeaskoa, Maider; Inigo-Campos, Antonio; Iniguez, Maria; Jara, Ruben; Jimenez, Angel; Jimenez-Alfaro, Ignacio; Jimenez, Pilar; Jimenez-Sousa, Maria A.; Jordan, Iolanda; Laguna-Goya, Rocio; Laorden, Daniel; Lasa-Lazaro, Maria; Claudia Lattig, Maria; Lauriente, Ailen; Liger Borja, Anabel; Llanos, Lucia; Lopez-Bernus, Amparo; Lopez de Heredia, Miguel; Lopez-Garcia, Esther; Lopez-Granados, Eduardo; Lopez-Rodriguez, Rosario; Lopez-Ruz, Miguel A.; Lorente, Leonardo; Lorenzo-Salazar, Josem.; Lozano, Jose E.; Lozano-Espinosa, Maria; Mahillo, Ignacio; Mancebo, Esther; Mar, Carmen; Marcelo Calvo, Cristina; Marcos-Delgado, Alba; Marcos, Miguel; Marin-Candon, Alicia; Mariscal-Aguilar, Pablo; Martin-Pedraza, Laura; Martin-Fernandez, Marta; Martin-Lopez, Caridad; Martin-Oterino, Jose-Angel; Dolores Martin, Maria; Martin, Vicente; Martin, Maria M.; Martin-Vicente, Maria; Martinez, Amalia; Martinez-Gonzalez, Oscar; Martinez, Ricardo; Martinez-Paz, Pedro; Diaz-Caneja, Covadonga M.; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez, Silvia; Jose Martinez, Juan; Martinez-Perez, Angel; Martinez-Ramas, Andrea; Martinez-Robles, Violeta; Marzal, Laura; Mazzeu, Juliana F.; Medrano, Francisco J.; Meijome, Xose M.; Mejuto-Montero, Natalia; Mendes, Ingrid; Duarte, Alice L.; Mendez-Echevarria, Ana; Mendoza Charris, Humberto; Merayo Macias, Eleuterio; Mercadillo, Fatima; Mercado-Sesma, Arieh R.; Minguez, Pablo; Molina-Roldan, Elena; Molina, AntonioJ. J.; Jose Montoya, Juan; Pinho, Susana M. T.; Moreira-Escriche, Patricia; Morelos-Arnedo, Xenia; Moreno, Rocio; Moreno Cuerda, Victor; Moreno-Docon, Antonio; Moreno-Escalante, Junior; Moreno Fernandez, Alberto; Munoz Garcia, Patricia; Neira, Pablo; Nevado, Julian; Nieto-Ganan, Israel; Silbiger, Vivian N.; Nunez-Torres, Rocio; Obrador-Hevia, Antonia; Gonzalo Ocejo-Vinyals, J.; Olivar, Virginia; Oliveira, Silviene F.; Ondo, Lorena; Orfao, Alberto; Ortega-Paino, Eva; Ortega, Luis; Ortiz-Lopez, Rocio; Ortiz-Flores, Fernando; Oteo, Jose A.; Pacheco, Manuel; Javier Pacheco-Miranda, Fredy; Padilla-Conejo, Irene; Panadero-Fajardo, Sonia; Parellada, Mara; Pariente-Rodriguez, Roberto; Friaza, Vicente; Paz-Artal, Estela; Peces-Barba, German; Pedromingo Kus, Miguel S.; Perales, Celia; Santos, Ney P. C.; Guegel, Genilson P.; Jazmin Perez, Maria; Perez, Alexandra; Perez-Matute, Patricia; Perez, Cesar; Perez-de-Nanclares, Gustavo; Perez-Garcia, Felipe; Perez, Patricia; Perez-Jurado, Luis A.; Elena Perez-Tomas, M.; Perucho, Teresa; Pichardo, Lisbeth A.; Ribeiro, Adriana P.; Pinsach-Abuin, Mel lina; Adriana Pinzon, Luz; Medeiros, Jeane F. P.; Pita, Guillermo; Pla-Junca, Francesc; Planas-Serra, Laura; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Eugenia Quevedo-Chavez, Maria; Angeles Quijada, Maria; Quintela, Ines; Ramiro-Leon, Soraya; Rascado Sedes, Pedro; Nunes, Joana F. R.; Recalde, Delia; Recio-Fernandez, Emma; Resino, Salvador; Sousa, Renata R.; Rivadeneira-Chamorro, Carlos S.; Roa-Agudelo, Diana; Robelo Pardo, Montserrat; Fernandes, Marianne R.; Rodriguez-Hernandez, Maria A.; Rodriguez-Palmero, Agusti; Rodriguez-Ruiz, Emilio; Johanna Rodriguez, Marilyn; Rodriguez-Artalejo, Fernando; Rodriguez-Ferrer, Marena; Rodriguez-Gallego, Carlos; Rodriguez-Garcia, Jose A.; Rodriguez Maya, Belen; Rodriguez-Nicolas, Antonio; Ezequiel Rodriguez-Novoa, German; Rodriguez-Urrego, Paula A.; Rojo, Federico; Romero-Coronado, Andrea; Morilla, Ruben; Rondon-Garcia, Filomeno; Rosales-Castillo, Antonio; Rubio, Cladelis; Rubio Olivera, Maria; Ruiz-Cabello, Francisco; Ruiz-Casares, Eva; Ruiz-Cubillan, Juan J.; Ruiz-Hornillos, Javier; Ruiz, Montserrat; Ryan, Pablo; Salamanca, Hector D.; Salazar-Garcia, Lorena; Gabriela Salgueiro-Origlia, Giorgina; Sangil, Anna; Sanchez-Pernaute, Olga; Sanchez, Pedro-Luis; Sanchez Lopez, Antonio J.; Sanchez-Pablo, Clara; Concepcion Sanchez-Prados, Maria; Sanchez-Real, Javier; Sanchez-Redondo, Jorge; Sancho-Sainz, Cristina; Sande, Esther; Santos, Arnoldo; Schluter, Agatha; Segovia, Sonia; Serra-Llovich, Alex; Sevil-Puras, Fernando; Sevilla-Porras, Marta; Sicolo, Miguel A.; Silvan-Fuentes, Cristina; Moraes, Vitor M. S.; Souza, Vanessa S.; Sole-Violan, Jordi; Manuel Soria, Jose; Sorli, Jose V.; Silva, Nayara S.; Carlos Souto, Juan; Sprockel, John J.; Javier Suarez-Rama, Jose; Suarez-Zamora, David A.; Taboada-Fraga, Xiana; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Vasconcelos, Romero H. T.; Telleria, Carlos; Carratto, Thassia M. T.; Antonio Tenorio-Castano, Jair; Teper, Alejandro; Araujo, Izabel M. T.; Torres-Macho, Juan; Torres-Tobar, Lilian; Torres-Gutierrez, Ronald P.; Troya, Jesus; Urioste, Miguel; Valencia-Ramos, Juan; Valido, Agustin; Pablo Vargas-Gallo, Juan; Varon, Belen; Vega, Tomas; Velasco-Quirce, Santiago; Velez-Santamaria, Valentina; Victor, Virginia; Vidan-Estevez, Julia; Silva, Gabriela V.; Vieitez-Santiago, Miriam; Vilches, Carlos; Villalobos, Lavinia; Villar, Felipe; Villar-Garcia, Judit; Villaverde, Cristina; Villoslada-Blanco, Pablo; Virseda-Berdices, Ana; Costa, Tatiana X.; Yanez, Zuleima; Zapatero-Gaviria, Antonio; Zarate, Ruth; Zazo, Sandra; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Gonzalez, Juan R.
2024-02-1986OAAIPerez-Jurado, Luis A.; Caceres, Alejandro; Balague-Dobon, Laura; Esko, Tonu; de Heredia, Miguel Lopez; Quintela, Ines; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Angel; Abellan, Javier; Acosta-Isaac, Rene; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Ahmadi Sabbagh, Abdolah; Alba, Jorge; Albu, Sergiu; Alcala-Gallardo, Karla A. M.; Alcoba-Florez, Julia; Alcolea Batres, Sergio; Rafael Algarin-Lara, Holmes; Almadana, Virginia; Medeiros, Kelliane A.; Almeida, Julia; Almoguera, Berta; Alonso, Maria R.; Alvarez, Nuria; Alvarez-Sala Walther, Rodolfo; Alvarez-Benitez, Yady; Alvarez-Navia, Felipe; dos Santos, Katiusse A.; Andreu-Bernabeu, Alvaro; Rosa Antonijoan, Maria; Martinez-Aquino, Eleno; Arana-Arri, Eunate; Aranda, Carlos; Arango, Celso; Araque, Carolina; Araujo, Nathalia K.; Arcanjo, Ana C.; Arnaiz, Ana; Arnalich Fernandez, Francisco; Arranz, Maria J.; Arribas Lopez, Jose Ramon; Artiga, Maria-Jesus; Avello-Malaver, Yubelly; Ayuso, Carmen; Ballina Martin, Belen; Baptista-Rosas, Raul C.; Maria Baldion, Ana; Barranco-Diaz, Andrea; Barreda-Sanchez, Maria; Barrera-Penagos, Viviana; Belhassen-Garcia, Moncef; Bernal-Bello, David; Bernal, Enrique; Bezerra, Joao F.; Bezerra, Marcos A. C.; Blanca-Lopez, Natalia; Blancas, Rafael; Boix-Palop, Lucia; Borobia, Alberto; Bravo, Elsa; Brion, Maria; Brochado-Kith, Oscar; Brugada, Ramon; Bustos, Matilde; Cabello, Alfonso; Caceres, Alejandro; Caceres-Agra, Juan J.; Calbo, Esther; Calderon, Enrique J.; Camacho, Shirley; Ceballos, Francisco C.; Canadas, Yolanda; Carbonell, Cristina; Cardona-Huerta, Servando; Sanchez-Carpintero Abad, Maria; Carpio Segura, Carlos; Antonio Carrillo-Avila, Jose; Campos, Marcela C.; Casasnovas, Carlos; Castano, Luis; Castano, Carlos F.; Castelao, Jose E.; Castellano Candalija, Aranzazu; Castillo, Maria A.; Chaves-Santiago, Walter G.; Chiquillo-Gomez, Sylena; Cid-Lopez, Marco A.; Cienfuegos-Jimenez, Oscar; Conde-Vicente, Rosa; Cunha, Gabriela C. R.; Lourdes Cordero-Lorenzana, M.; Corella, Dolores; Corrales, Almudena; Cortes-Sanchez, Jose L.; Corton, Marta; Souza, Karla S. C.; Silva, Fabiola T. C.; Cruz, Raquel; Cuesta, Luisa; Tavares, Nathali A. C.; Carvalho, Maria C. C.; Dalmau, David; Dantas-Komatsu, Raquel C. S.; Teresa Darnaude, M.; de Andres, Raimundo; de Juan, Carmen; de la Cruz Troca, Juan J.; de la Horra, Carmen; de la Hoz, Ana B.; De Martino-Rodriguez, Alba; Cruz, Marina S.; de Sousa Alves Neri, Julianna Lys; del Campo-Perez, Victor; Delgado-Cuesta, Juan; Diaz de Bustamante, Aranzazu; Diaz-Perez, Anderson; Dietl, Beatriz; Diz-de Almeida, Silvia; Alves, Manoella do Monte; Dominguez-Garrido, Elena; Rosa, Lidia S.; Luchessi, Andre D.; Echave-Sustaeta, Jose; Eiros, Rocio; Enciso-Olivera, Cesar O.; Escudero, Gabriela; Pablo Espana, Pedro; Estigarribia Sanabria, Gladys; Carmen Farinas, Maria; Fernandez, Ramon; Fernandez-Caballero, Lidia; Fernandez-Cruz, Ana; Fernandez-Ferrero, Silvia; Fernandez Martinez, Yolanda; Fernandez-Nestosa, Maria J.; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Sampedro, Marta; Fernandez, Ruth; Fernandez-Villa, Tania; Fernandez-Capitan, Carmen; Carioca, Antonio Augusto F.; Flores-Perez, Patricia; Fuenmayor-Hernandez, Lacides; Fuertes-Nunez, Marta; Fumado, Victoria; Gadea, Ignacio; Gagliardi, Lidia; Gago-Dominguez, Manuela; Gallego, Natalia; Galoppo, Cristina; Garcia-Soidan, Ana; Garcia-Cerrada, Carlos; Garcia-de-Vicuna, Aitor; Garcia-Garcia, Josefina; Garcia-Garcia, Irene; Garcia-Ibarbia, Carmen; Garcia-Montero, Andres C.; Garcia, Leticia; Garcia, Mercedes; Garcia Torrejon, Maria Carmen; Garcia, Ines; Garcia-Vazquez, Elisa; Garza-Frias, Emiliano; Gentile, Angela; Gil-Fournier, Belen; de Araujo, Jessica N. G.; Gomez-Duque, Mario; Gomez-Arrue, Javier; Gomez Carrera, Luis; Gomez Garcia, Maria; Gomez Sacristan, Angela; Gonzalez, Juan R.; Gonzalez-Neira, Anna; Gonzalez Alvarez, Beatriz; Bernaldo de Quiros, Fernan Gonzalez; Gonzalez-Montelongo, Rafaela; Gonzalez-Penas, Javier; Gonzalez-Sagrado, Manuel; Gonzalo-Benito, Hugo; Gorgojo-Galindo, Oscar; Gorgolas, Miguel; Guaragna, Florencia; Chaux, Jessica G.; Guillen-Navarro, Encarna; Guillen-Guio, Beatriz; Guisado-Vasco, Pablo; Gutierrez-Castaneda, Luz D.; Gutierrez-Bautista, Juan F.; Heili-Frades, Sara; Jacomo, Rafael H.; Hernandez, Estefania; Hernandez-Moro, Cristina; Hernandez-Ortega, Luis D.; Hernandez-Perez, Guillermo; Hernandez-Vaquero, Rebeca; Herraez, Belen; Teresa Herranz, M.; Herrera, Maria; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Horcajada, Juan P.; Imaz-Ayo, Natale; Intxausti-Urrutibeaskoa, Maider; Inigo-Campos, Antonio; Iniguez, Maria; Jara, Ruben; Jimenez, Angel; Jimenez-Alfaro, Ignacio; Jimenez, Pilar; Jimenez-Sousa, Maria A.; Jordan, Iolanda; Laguna-Goya, Rocio; Laorden, Daniel; Lasa-Lazaro, Maria; Claudia Lattig, Maria; Lauriente, Ailen; Liger Borja, Anabel; Llanos, Lucia; Lopez-Bernus, Amparo; Lopez de Heredia, Miguel; Lopez-Garcia, Esther; Lopez-Granados, Eduardo; Lopez-Rodriguez, Rosario; Lopez-Ruz, Miguel A.; Lorente, Leonardo; Lorenzo-Salazar, Josem.; Lozano, Jose E.; Lozano-Espinosa, Maria; Mahillo, Ignacio; Mancebo, Esther; Mar, Carmen; Marcelo Calvo, Cristina; Marcos-Delgado, Alba; Marcos, Miguel; Marin-Candon, Alicia; Mariscal-Aguilar, Pablo; Martin-Pedraza, Laura; Martin-Fernandez, Marta; Martin-Lopez, Caridad; Martin-Oterino, Jose-Angel; Dolores Martin, Maria; Martin, Vicente; Martin, Maria M.; Martin-Vicente, Maria; Martinez, Amalia; Martinez-Gonzalez, Oscar; Martinez, Ricardo; Martinez-Paz, Pedro; Diaz-Caneja, Covadonga M.; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez, Silvia; Jose Martinez, Juan; Martinez-Perez, Angel; Martinez-Ramas, Andrea; Martinez-Robles, Violeta; Marzal, Laura; Mazzeu, Juliana F.; Medrano, Francisco J.; Meijome, Xose M.; Mejuto-Montero, Natalia; Mendes, Ingrid; Duarte, Alice L.; Mendez-Echevarria, Ana; Mendoza Charris, Humberto; Merayo Macias, Eleuterio; Mercadillo, Fatima; Mercado-Sesma, Arieh R.; Minguez, Pablo; Molina-Roldan, Elena; Molina, AntonioJ. J.; Jose Montoya, Juan; Pinho, Susana M. T.; Moreira-Escriche, Patricia; Morelos-Arnedo, Xenia; Moreno, Rocio; Moreno Cuerda, Victor; Moreno-Docon, Antonio; Moreno-Escalante, Junior; Moreno Fernandez, Alberto; Munoz Garcia, Patricia; Neira, Pablo; Nevado, Julian; Nieto-Ganan, Israel; Silbiger, Vivian N.; Nunez-Torres, Rocio; Obrador-Hevia, Antonia; Gonzalo Ocejo-Vinyals, J.; Olivar, Virginia; Oliveira, Silviene F.; Ondo, Lorena; Orfao, Alberto; Ortega-Paino, Eva; Ortega, Luis; Ortiz-Lopez, Rocio; Ortiz-Flores, Fernando; Oteo, Jose A.; Pacheco, Manuel; Javier Pacheco-Miranda, Fredy; Padilla-Conejo, Irene; Panadero-Fajardo, Sonia; Parellada, Mara; Pariente-Rodriguez, Roberto; Friaza, Vicente; Paz-Artal, Estela; Peces-Barba, German; Pedromingo Kus, Miguel S.; Perales, Celia; Santos, Ney P. C.; Guegel, Genilson P.; Jazmin Perez, Maria; Perez, Alexandra; Perez-Matute, Patricia; Perez, Cesar; Perez-de-Nanclares, Gustavo; Perez-Garcia, Felipe; Perez, Patricia; Perez-Jurado, Luis A.; Elena Perez-Tomas, M.; Perucho, Teresa; Pichardo, Lisbeth A.; Ribeiro, Adriana P.; Pinsach-Abuin, Mel lina; Adriana Pinzon, Luz; Medeiros, Jeane F. P.; Pita, Guillermo; Pla-Junca, Francesc; Planas-Serra, Laura; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Eugenia Quevedo-Chavez, Maria; Angeles Quijada, Maria; Quintela, Ines; Ramiro-Leon, Soraya; Rascado Sedes, Pedro; Nunes, Joana F. R.; Recalde, Delia; Recio-Fernandez, Emma; Resino, Salvador; Sousa, Renata R.; Rivadeneira-Chamorro, Carlos S.; Roa-Agudelo, Diana; Robelo Pardo, Montserrat; Fernandes, Marianne R.; Rodriguez-Hernandez, Maria A.; Rodriguez-Palmero, Agusti; Rodriguez-Ruiz, Emilio; Johanna Rodriguez, Marilyn; Rodriguez-Artalejo, Fernando; Rodriguez-Ferrer, Marena; Rodriguez-Gallego, Carlos; Rodriguez-Garcia, Jose A.; Rodriguez Maya, Belen; Rodriguez-Nicolas, Antonio; Ezequiel Rodriguez-Novoa, German; Rodriguez-Urrego, Paula A.; Rojo, Federico; Romero-Coronado, Andrea; Morilla, Ruben; Rondon-Garcia, Filomeno; Rosales-Castillo, Antonio; Rubio, Cladelis; Rubio Olivera, Maria; Ruiz-Cabello, Francisco; Ruiz-Casares, Eva; Ruiz-Cubillan, Juan J.; Ruiz-Hornillos, Javier; Ruiz, Montserrat; Ryan, Pablo; Salamanca, Hector D.; Salazar-Garcia, Lorena; Gabriela Salgueiro-Origlia, Giorgina; Sangil, Anna; Sanchez-Pernaute, Olga; Sanchez, Pedro-Luis; Sanchez Lopez, Antonio J.; Sanchez-Pablo, Clara; Concepcion Sanchez-Prados, Maria; Sanchez-Real, Javier; Sanchez-Redondo, Jorge; Sancho-Sainz, Cristina; Sande, Esther; Santos, Arnoldo; Schluter, Agatha; Segovia, Sonia; Serra-Llovich, Alex; Sevil-Puras, Fernando; Sevilla-Porras, Marta; Sicolo, Miguel A.; Silvan-Fuentes, Cristina; Moraes, Vitor M. S.; Souza, Vanessa S.; Sole-Violan, Jordi; Manuel Soria, Jose; Sorli, Jose V.; Silva, Nayara S.; Carlos Souto, Juan; Sprockel, John J.; Javier Suarez-Rama, Jose; Suarez-Zamora, David A.; Taboada-Fraga, Xiana; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Vasconcelos, Romero H. T.; Telleria, Carlos; Carratto, Thassia M. T.; Antonio Tenorio-Castano, Jair; Teper, Alejandro; Araujo, Izabel M. T.; Torres-Macho, Juan; Torres-Tobar, Lilian; Torres-Gutierrez, Ronald P.; Troya, Jesus; Urioste, Miguel; Valencia-Ramos, Juan; Valido, Agustin; Pablo Vargas-Gallo, Juan; Varon, Belen; Vega, Tomas; Velasco-Quirce, Santiago; Velez-Santamaria, Valentina; Victor, Virginia; Vidan-Estevez, Julia; Silva, Gabriela V.; Vieitez-Santiago, Miriam; Vilches, Carlos; Villalobos, Lavinia; Villar, Felipe; Villar-Garcia, Judit; Villaverde, Cristina; Villoslada-Blanco, Pablo; Virseda-Berdices, Ana; Costa, Tatiana X.; Yanez, Zuleima; Zapatero-Gaviria, Antonio; Zarate, Ruth; Zazo, Sandra; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Gonzalez, Juan R.ShareSaveA new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells(vol 32, 324, 2024 )2024-02-150OAAIAwamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Kasri, Nael Nadif; Boronat, Susana; Ibanez-Mico, Salvador; Herraiz, Laura Cuesta; Ferrer, Irene; Carrascal, Antonio Martinez; Perez-Jurado, Luis A.; Lain, Gemma Aznar; Ortigoza-Escobar, Juan Dario; de Vries, Bert B. A.; Koolen, David A.; Weksberg, Rosanna
2024-02-150OAAIAwamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Kasri, Nael Nadif; Boronat, Susana; Ibanez-Mico, Salvador; Herraiz, Laura Cuesta; Ferrer, Irene; Carrascal, Antonio Martinez; Perez-Jurado, Luis A.; Lain, Gemma Aznar; Ortigoza-Escobar, Juan Dario; de Vries, Bert B. A.; Koolen, David A.; Weksberg, RosannaShareSaveA new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells2024-01-293OAAIAwamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Khadri, Nael Nadif; Boronat, Susana; Ibanez-Mico, Salvador; Herraiz, Laura Cuesta; Ferrer, Irene; Carrascal, Antonio Martinez; Perez-Jurado, Luis A.; Lain, Gemma Aznar; Ortigoza-Escobar, Juan Dario; de Vries, Bert B. A.; Koolen, David A.; Weksberg, Rosanna
2024-01-293OAAIAwamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Khadri, Nael Nadif; Boronat, Susana; Ibanez-Mico, Salvador; Herraiz, Laura Cuesta; Ferrer, Irene; Carrascal, Antonio Martinez; Perez-Jurado, Luis A.; Lain, Gemma Aznar; Ortigoza-Escobar, Juan Dario; de Vries, Bert B. A.; Koolen, David A.; Weksberg, RosannaShareSaveSpliceosome malfunction causes neurodevelopmental disorders with overlapping features2024-01-026OAAILi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
2024-01-026OAAILi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, HakonShareSaveGenomic autopsy to identify underlying causes of pregnancy loss and perinatal death ( jan, pg - 180 ,2023)NATURE MEDICINE2023-07-100OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Paris, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.
NATURE MEDICINEIF50
2023-07-100OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Paris, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.ShareSaveCDKL5 Deficiency Disorder Without EpilepsyPEDIATRIC NEUROLOGY2023-07-013Aznar-Lain, Gemma; Fernandez-Mayoralas, Daniel M.; Caicoya, Anne G.; Rocamora, Rodrigo; Perez-Jurado, Luis A.
PEDIATRIC NEUROLOGYIF2.1
2023-07-013PREAI
Aznar-Lain, Gemma; Fernandez-Mayoralas, Daniel M.; Caicoya, Anne G.; Rocamora, Rodrigo; Perez-Jurado, Luis A.ShareSaveFamilial isolated acanthosis nigricans as a result of a recurrent FGFR3 truncating mutation2023-02-271OAAIPesque, David; March-Rodriguez, Alvaro; Abreu-Rodriguez, Irene; Perez-Jurado, Luis A.; Pujol, Ramon M.
2023-02-271OAAIPesque, David; March-Rodriguez, Alvaro; Abreu-Rodriguez, Irene; Perez-Jurado, Luis A.; Pujol, Ramon M.ShareSaveGenomic autopsy to identify underlying causes of pregnancy loss and perinatal deathNATURE MEDICINE2023-01-1924OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui
NATURE MEDICINEIF50
2023-01-1924OAAIByrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, SuiShareSaveFOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsGENETICS IN MEDICINE2022-12-014OAAICospain, Auriane; Rivera-Barahona, Ana; Dumontet, Erwan; Gener, Blanca; Bailleul-Forestier, Isabelle; Meyts, Isabelle; Jouret, Guillaume; Isidor, Bertrand; Brewer, Carole; Wuyts, Wim; Moens, Leen; Delafontaine, Selket; Lam, Wayne Wing Keung; Van den Bogaert, Kris; Boogaerts, Anneleen; Scalais, Emmanuel; Besnard, Thomas; Cogne, Benjamin; Guissard, Christophe; Rollier, Paul; Carre, Wilfrid; Bouvet, Regis; Tarte, Karin; Gomez-Carmona, Ricardo; Lapunzina, Pablo; Odent, Sylvie; Faoucher, Marie; Dubourg, Christele; Ruiz-Perez, Victor L.; Devriendt, Koen; Pasquier, Laurent; Perez-Jurado, Luis A.
GENETICS IN MEDICINEIF6.2
2022-12-014OAAICospain, Auriane; Rivera-Barahona, Ana; Dumontet, Erwan; Gener, Blanca; Bailleul-Forestier, Isabelle; Meyts, Isabelle; Jouret, Guillaume; Isidor, Bertrand; Brewer, Carole; Wuyts, Wim; Moens, Leen; Delafontaine, Selket; Lam, Wayne Wing Keung; Van den Bogaert, Kris; Boogaerts, Anneleen; Scalais, Emmanuel; Besnard, Thomas; Cogne, Benjamin; Guissard, Christophe; Rollier, Paul; Carre, Wilfrid; Bouvet, Regis; Tarte, Karin; Gomez-Carmona, Ricardo; Lapunzina, Pablo; Odent, Sylvie; Faoucher, Marie; Dubourg, Christele; Ruiz-Perez, Victor L.; Devriendt, Koen; Pasquier, Laurent; Perez-Jurado, Luis A.ShareSaveGenomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsGENETICS IN MEDICINE2022-11-0122OAAIKayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
GENETICS IN MEDICINEIF6.2
2022-11-0122OAAIKayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.ShareSaveClinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesionsBONE2022-08-013OAAIOvejero, Diana; Garcia-Giralt, Natalia; Martinez-Gil, Nuria; Rabionet, Raquel; Balcells, Susanna; Grinberg, Daniel; Alberto Perez-Jurado, Luis; Nogues, Xavier; Foronda, Inigo-Etxebarria
BONEIF3.6
2022-08-013OAAIOvejero, Diana; Garcia-Giralt, Natalia; Martinez-Gil, Nuria; Rabionet, Raquel; Balcells, Susanna; Grinberg, Daniel; Alberto Perez-Jurado, Luis; Nogues, Xavier; Foronda, Inigo-EtxebarriaShareSaveThe early-life exposome modulates the effect of polymorphic inversions on DNA methylation2022-05-1210OAAICarreras-Gallo, Natalia; Caceres, Alejandro; Balague-Dobon, Laura; Ruiz-Arenas, Carlos; Andrusaityte, Sandra; Carracedo, Angel; Casas, Maribel; Chatzi, Leda; Grazuleviciene, Regina; Gutzkow, Kristine Bjerve; Lepeule, Johanna; Maitre, Lea; Nieuwenhuijsen, Mark; Slama, Remy; Stratakis, Nikos; Thomsen, Cathrine; Urquiza, Jose; Wright, John; Yang, Tiffany; Escaramis, Georgia; Bustamante, Mariona; Vrijheid, Martine; Perez-Jurado, Luis A.; Gonzalez, Juan R.
2022-05-1210OAAICarreras-Gallo, Natalia; Caceres, Alejandro; Balague-Dobon, Laura; Ruiz-Arenas, Carlos; Andrusaityte, Sandra; Carracedo, Angel; Casas, Maribel; Chatzi, Leda; Grazuleviciene, Regina; Gutzkow, Kristine Bjerve; Lepeule, Johanna; Maitre, Lea; Nieuwenhuijsen, Mark; Slama, Remy; Stratakis, Nikos; Thomsen, Cathrine; Urquiza, Jose; Wright, John; Yang, Tiffany; Escaramis, Georgia; Bustamante, Mariona; Vrijheid, Martine; Perez-Jurado, Luis A.; Gonzalez, Juan R.ShareSaveResearch Directions
No research directions