New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

por Sifre-Ruiz, Anna, Sagasta, Amaia, Santos, Erika, Perez de Nanclares, Guiomar, Heath, Karen E.
Publicado 2023

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

por Aguilera, Cinthia, Hümmer, Stefan, Masanas, Marc, Gabau, Elisabeth, Guitart, Miriam, Jeyaprakash, A. Arockia, Segura, Miguel F., Santamaria, Anna, Ruiz, Anna
Publicado 2021

Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

por Ruiz, Anna, Llort, Gemma, Yagüe, Carmen, Baena, Neus, Viñas, Marina, Torra, Montse, Brunet, Anna, Seguí, Miquel A., Saigí, Eugeni, Guitart, Miriam
Publicado 2014

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

por Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Baena, Neus, San, Joan, Ruiz, Anna, Coll, Maria Dolors, Novell, Ramon, Guitart, Miriam
Publicado 2014

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

por Aguilera, Cinthia, Viñas-Jornet, Marina, Baena, Neus, Gabau, Elisabeth, Fernández, Concepción, Capdevila, Nuria, Cirkovic, Sanja, Sarajlija, Adrijan, Miskovic, Marijana, Radivojevic, Danijela, Ruiz, Anna, Guitart, Miriam
Publicado 2017

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

por Aguilera, Cinthia, Gabau, Elisabeth, Laurie, Steve, Baena, Neus, Derdak, Sophia, Capdevila, Núria, Ramirez, Ariadna, Delgadillo, Veronica, García‐Catalan, Maria Jesus, Brun, Carme, Guitart, Miriam, Ruiz, Anna
Publicado 2018

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

por Spataro, Nino, Trujillo-Quintero, Juan Pablo, Manso, Carmen, Gabau, Elisabeth, Capdevila, Nuria, Martinez-Glez, Victor, Berenguer-Llergo, Antoni, Reyes, Sara, Brunet, Anna, Baena, Neus, Guitart, Miriam, Ruiz, Anna
Publicado 2023

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

por Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Baena, Neus, Ribas-Vidal, Núria, Ruiz, Anna, Torrents-Rodas, David, Gabau, Elisabeth, Vilella, Elisabet, Martorell, Lourdes, Armengol, Lluís, Novell, Ramon, Guitart, Míriam
Publicado 2018

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

por Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena, Neus, Guitart, Miriam, Ruiz, Anna
Publicado 2021

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

por Thygesen, Johan H., Wolfe, Kate, McQuillin, Andrew, Viñas-Jornet, Marina, Baena, Neus, Brison, Nathalie, D'Haenens, Greet, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Ruiz, Anna, Vermeesch, Joris, Weyts, Eddy, Novell, Ramon, Buggenhout, Griet Van, Strydom, André, Bass, Nick, Guitart, Miriam, Vogels, Annick
Publicado 2018

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

por Schänzer, Anne, Achleitner, Melanie T., Trümbach, Dietrich, Hubert, Laurence, Munnich, Arnold, Ahlemeyer, Barbara, AlAbdulrahim, Maha M., Greif, Philipp A., Vosberg, Sebastian, Hummer, Blake, Feichtinger, René G., Mayr, Johannes A., Wortmann, Saskia B., Aichner, Heidi, Rudnik-Schöneborn, Sabine, Ruiz, Anna, Gabau, Elisabeth, Sánchez, Jacobo Pérez, Ellard, Sian, Homfray, Tessa, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel
Publicado 2021

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

por Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh ichi
Publicado 2022

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

por Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle
Publicado 2020

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

por Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Publicado 2022