Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome
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Published in Acta Physiologica (01.05.2022)
Published in Acta Physiologica (01.05.2022)
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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
El Chehadeh, Salima, Han, Kyung Ah, Kim, Dongwook, Jang, Gyubin, Bakhtiari, Somayeh, Lim, Dongseok, Kim, Hee Young, Kim, Jinhu, Kim, Hyeonho, Wynn, Julia, Chung, Wendy K., Vitiello, Giuseppina, Cutcutache, Ioana, Page, Matthew, Gecz, Jozef, Harper, Kelly, Han, Ah-reum, Kim, Ho Min, Wessels, Marja, Bayat, Allan, Jaén, Alberto Fernández, Selicorni, Angelo, Maitz, Silvia, de Brouwer, Arjan P. M., Silfhout, Anneke Vulto-van, Armstrong, Martin, Symonds, Joseph, Küry, Sébastien, Isidor, Bertrand, Cogné, Benjamin, Nizon, Mathilde, Feger, Claire, Muller, Jean, Torti, Erin, Grange, Dorothy K., Willems, Marjolaine, Kruer, Michael C., Ko, Jaewon, Piton, Amélie, Um, Ji Won
Published in Nature communications (15.07.2022)
Published in Nature communications (15.07.2022)
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GIGYF1 disruption associates with autism and impaired IGF-1R signaling
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
Published in The Journal of clinical investigation (01.10.2022)
Published in The Journal of clinical investigation (01.10.2022)
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Donepezil use in children and adolescents with tics and attention-deficit/hyperactivity disorder: An 18-week, single-center, dose-escalating, prospective, open-label study
Cubo, Esther, MD, PhD, Fern¡ndez Jaén, Alberto, MD, Moreno, Celia, PhD, Anaya, Belén, PhD, Gonz¡lez, Miguel, PhD, Kompoliti, Katie, MD
Published in Clinical therapeutics (2008)
Published in Clinical therapeutics (2008)
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A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy
Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto
Published in Journal of neurochemistry (01.10.2019)
Published in Journal of neurochemistry (01.10.2019)
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The development of selective stopping: Qualitative and quantitative changes from childhood to early adulthood
Albert, Jacobo, Rincón‐Pérez, Irene, Sánchez‐Carmona, Alberto J., Arroyo‐Lozano, Susana, Olmos, Ricardo, Hinojosa, José A., Fernández‐Jaén, Alberto, López‐Martín, Sara
Published in Developmental science (01.09.2022)
Published in Developmental science (01.09.2022)
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Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly
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
Published in Proceedings of the National Academy of Sciences - PNAS (24.09.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (24.09.2019)
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Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul‐Rahman, Omar, Suckow, Vanessa, Fernández‐Jaén, Alberto, Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al‐Nasiry, Salwan, Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies
Rafi, Syed K, Fernández-Jaén, Alberto, Álvarez, Sara, Nadeau, Owen W, Butler, Merlin G
Published in International journal of molecular sciences (09.07.2019)
Published in International journal of molecular sciences (09.07.2019)
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The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Li, Dong, Ahrens‐Nicklas, Rebecca C., Baker, Janice, Bhambhani, Vikas, Calhoun, Amy, Cohen, Julie S., Deardorff, Matthew A., Fernández‐Jaén, Alberto, Kamien, Benjamin, Jain, Mahim, Mckenzie, Fiona, Mintz, Mark, Motter, Constance, Niles, Kirsten, Ritter, Alyssa, Rogers, Curtis, Roifman, Maian, Townshend, Sharron, Ward‐Melver, Catherine, Schrier Vergano, Samantha A.
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis
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
Published in BMC psychiatry (08.02.2018)
Published in BMC psychiatry (08.02.2018)
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ANO3 and early-onset dyskinetic encephalopathy
Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Tirado, Pilar, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto
Published in European journal of medical genetics (01.12.2020)
Published in European journal of medical genetics (01.12.2020)
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Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
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
Published in Genes (24.08.2021)
Published in Genes (24.08.2021)
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Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient
Fernández-Jaén, Alberto, Álvarez, Sara, Young So, Eui, Ouchi, Toru, Jiménez de la Peña, Mar, Duat, Anna, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Albert, Jacobo, Calleja-Pérez, Beatriz
Published in European journal of paediatric neurology (01.05.2016)
Published in European journal of paediatric neurology (01.05.2016)
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Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome
Fernández-Jaén, Alberto, Castellanos, María del Carmen, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, de la Vega, Alberto González, Calleja-Pérez, Beatriz, Fernández, Ester Corbacho, Albert, Jacobo, Hombre, María Carmen Sánchez
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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