High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Inte...

por Rafi, Syed K., Fernández-Jaén, Alberto, Álvarez, Sara, Nadeau, Owen W., Butler, Merlin G.
Publicado 2019

Effect of an autism-associated KCNMB2 variant, G124R, on BK channel properties

por Moldenhauer, Hans J., Dinsdale, Ria L., Alvarez, Sara, Fernández-Jaén, Alberto, Meredith, Andrea L.
Publicado 2022

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

por Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto
Publicado 2019

Selective Inhibitory Control in Middle Childhood

por Rincón-Pérez, Irene, Sánchez-Carmona, Alberto J., Arroyo-Lozano, Susana, García-Rubio, Carlos, Hinojosa, José Antonio, Fernández-Jaén, Alberto, López-Martín, Sara, Albert, Jacobo
Publicado 2021

A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression

por Paganoni, Alyssa J. J., Amoruso, Federica, Porta Pelayo, Javier, Calleja-Pérez, Beatriz, Vezzoli, Valeria, Duminuco, Paolo, Caramello, Alessia, Oleari, Roberto, Fernández-Jaén, Alberto, Cariboni, Anna
Publicado 2022

Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly

por Yang, Rui, Walder-Christensen, Kathryn K., Lalani, Samir, Yan, Haidun, García-Prieto, Irene Díez, Álvarez, Sara, Fernández-Jaén, Alberto, Speltz, Laura, Jiang, Yong-Hui, Bennett, Vann
Publicado 2019

Functional and structural deficiencies of Gemin5 variants associated with neurological disorders

por Francisco-Velilla, Rosario, Embarc-Buh, Azman, del Caño-Ochoa, Francisco, Abellan, Salvador, Vilar, Marçal, Alvarez, Sara, Fernandez-Jaen, Alberto, Kour, Sukhleen, Rajan, Deepa S, Pandey, Udai Bhan, Ramón-Maiques, Santiago, Martinez-Salas, Encarnacion
Publicado 2022

Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly

por Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff
Publicado 2022

Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability

por Tran, Viviane, Goyette, Marie-Anne, Martínez-García, Mónica, Jiménez de Domingo, Ana, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Tirado, Pilar, Calleja-Pérez, Beatriz, Álvarez, Sara, Côté, Jean-François, Fernández-Jaén, Alberto
Publicado 2021

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

por Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J., Hallgrímsson, Benedikt, Birnbaum, Ramon Y.
Publicado 2022

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism

por Young, Natalie, Asif, Maria, Jackson, Matthew, Fernández-Mayoralas, Daniel Martín, de la Peña, Mar Jimenez, Calleja-Pérez, Beatriz, Álvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A., Höhne, Wolfgang, Nürnberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernández-Jaén, Alberto
Publicado 2021

Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis

por Quintero, Javier, Ramos-Quiroga, Josep A., Sebastián, Javier San, Montañés, Francisco, Fernández-Jaén, Alberto, Martínez-Raga, José, Giral, Marta García, Graell, Montserrat, Mardomingo, María J., Soutullo, César, Eiris, Jesús, Téllez, Montserrat, Pamias, Montserrat, Correas, Javier, Sabaté, Juncal, García-Orti, Laura, Alda, José A.
Publicado 2018

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

por Accogli, Andrea, Wiegand, Gert, Scala, Marcello, Cerminara, Caterina, Iacomino, Michele, Riva, Antonella, Carlini, Barbara, Camerota, Letizia, Belcastro, Vincenzo, Prontera, Paolo, Fernández-Jaén, Alberto, Bebek, Nerses, Scudieri, Paolo, Baldassari, Simona, Salpietro, Vincenzo, Novelli, Giuseppe, De Luca, Chiara, von Stülpnagel, Celina, Kluger, Felicitas, Kluger, Gerhard Josef, Wohlrab, Gabriele Christine, Ramantani, Georgia, Lewis-Smith, David, Thomas, Rhys H., Lai, Ming, Verrotti, Alberto, Striano, Salvatore, Depienne, Christel, Minetti, Carlo, Benfenati, Fabio, Brancati, Francesco, Zara, Federico, Striano, Pasquale
Publicado 2021

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

por Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A., Earl, Rachel K., Kurtz-Nelson, Evangeline C., Idleburg, Michaela J., Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D., Ramos, Luiza L.P., Santos, Mara Lucia S.F., Martin, Donna M., Brooks, Dan, Symonds, Joseph D., Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E., Xia, Kun, Guo, Hui
Publicado 2022

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

por Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, PIARD, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K.E., Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O’Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim
Publicado 2023

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

por Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna
Publicado 2022