Alberto Fernández Jaén (Alberto Fernández-Jaén, Alberto Fernandez-Jaen)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 11

Top Venues

Journal of medical genetics

International journal of molecular sciences

Genome research

Research square

Hospital Universitario Quirón

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Universitario Quirón Jan 01 2010

Spain

Head of Neuropediatric Department :: Neurology

Publications

David Picketts, Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama, Elise Brischoux-Boucher, Juliette Piard, Kristin Monaghan, Maria Guillen Sacoto, William B Dobyns, Kristen L Park, Daniel Fernández-Mayoralas, Alberto Fernández Jaén, Parul Jayakar, Alfredo Brusco, Vincenzo Antona, Elisa Giorgio, Malin Kvarnung, Bertrand Isidor, Solène Conrad, Benjamin Cogné, Wallid Deb, K E Stuurman, Katalin Sterbova, Noor Smal, Sarah Weckhuysen, Renske Oegema, A Micheil Innes, Maeson Latsko, Tawfeg Ben-Omran, Rebecca Yeh, Michael C Kruer, Somayeh Bakhtiari, Antigone Papavasiliou, Sébastien Moutton, Sophie Nambot, Sirisak Chanprasert, Sarah Paolucci, Kait Miller, Barbara Burton, Katherine Kim, Emily O'Heir, Zandre Bruwer, Kirsten Ann Donald, Tjitske Kleefstra, Amy Goldstein, Brad Angle, Kelly Bontempo, Peter Miny, Pascal Joset, Florence Demurger, Emma Hobson, Lewis Pang, Lori Carpenter, Dong Li, Dominique Bonneau, Bekim Sadikovic
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Research square (2023)
Mar Jiménez de la Peña, Irene Rincón-Pérez, Sara López-Martín, Jacobo Albert, Daniel Martín Fernández-Mayoralas, Ana Laura Fernández-Perrone, Ana Jiménez de Domingo, Pilar Tirado, Beatriz Calleja-Pérez, Javier Porta, Sara Álvarez, Alberto Fernández Jaén
Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings. American journal of medical genetics. Part A (2023)
Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco Del Caño-Ochoa, Salvador Abellan, Marçal Vilar, Sara Alvarez, Alberto Fernández Jaén, Sukhleen Kour, Deepa S Rajan, Udai Bhan Pandey, Santiago Ramón-Maiques, Encarnacion Martínez-Salas
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders. Life science alliance 5 (7) (2022)
Alyssa J J Paganoni, Federica Amoruso, Javier Porta Pelayo, Beatriz Calleja-Pérez, Valeria Vezzoli, Paolo Duminuco, Alessia Caramello, Roberto Oleari, Alberto Fernández Jaén, Alessia Caramello
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression. International journal of molecular sciences 23 (10) (2022)
Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández Jaén, Olson J Rory, Benedikt Hallgrimsson, Ramon Y Birnbaum
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations. Genome research 32 (7) (2022)
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-Reum Han, Ho Min Kim, Marja Wessels, Carolina Alvarez, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P M de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph D Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K Grange, Marjolaine Willems, Michael C Kruer, Jaewon Ko, Amelie Piton, Ji Won Um
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature communications 13 (1) (2022)
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-Del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Federico Martínez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. Journal of medical genetics (2022)
Andrea Accogli, Gert Wiegand, Marcello Scala, Caterina Cerminara, Michele Iacomino, Antonella Riva, Barbara Carlini, Letizia Camerota, Vincenzo Belcastro, Paolo Prontera, Alberto Fernández Jaén, Nerses Bebek, Paolo Scudieri, Simona Baldassari, Vincenzo Salpietro, Giuseppe Novelli, Chiara De Luca, Celina von Stülpnagel, Felicitas Kluger, Gerhard Josef Kluger, Gabriele Christine Wohlrab, Georgia Ramantani, David Lewis-Smith, Rhys Huw Thomas, Ming Lai, Alberto Verrotti, Salvatore Striano, Christel Depienne, Carlo Minetti, Fabio Benfenati, Francesco Brancati, Federico Zara, Pasquale Striano
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. Neurology 97 (6) (2021)
Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A Noegel, Wolfgang Höhne, Peter Nürnberg, Boguslaw Obara, Muhammad Sajid Hussain, Iakowos Karakesisoglou, Alberto Fernández Jaén
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism. Genes 12 (9) (2021)
Christopher Geoffrey Woods, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steven N Lisgo, Alberto Fernández Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan Sami Alkuraya
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly. Journal of medical genetics (2021)
Syed K Rafi, Alberto Fernández Jaén, Sara Álvarez, Owen W Nadeau, Merlin G Butler
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. International journal of molecular sciences 20 (13) (2019)

Alberto Fernández Jaén.css-eqlu8i{font-size:small;padding-left:4px;} (Alberto Fernández-Jaén, Alberto Fernandez-Jaen)

Publication Activity (10 Years)

Top Topics

Top Venues

Alberto Fernández Jaén (Alberto Fernández-Jaén, Alberto Fernandez-Jaen)