The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

por Costa-Roger, Mar, Blasco-Pérez, Laura, Cuscó, Ivon, Tizzano, Eduardo F.
Publicado 2021

Provision of Genetic Services for Autism and its Impact on Spanish Families

por Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Publicado 2017

DNA methylation abnormalities in congenital heart disease

por Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A
Publicado 2015

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

por Álvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cuscó, Ivón, Carracedo, Ángel, Pérez-Jurado, Luis Alberto, Salas, Antonio
Publicado 2011

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

por Cuscó, Ivon, Bernal, Sara, Blasco-Pérez, Laura, Calucho, Maite, Alias, Laura, Fuentes-Prior, Pablo, Tizzano, Eduardo F.
Publicado 2020

Contribution of Rare Copy Number Variants to Isolated Human Malformations

por Serra-Juhé, Clara, Rodríguez-Santiago, Benjamín, Cuscó, Ivon, Vendrell, Teresa, Camats, Núria, Torán, Núria, Pérez-Jurado, Luis A.
Publicado 2012

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

por Cuscó, Ivon, del Campo, Miguel, Vilardell, Mireia, González, Eva, Gener, Blanca, Galán, Enrique, Toledo, Laura, Pérez-Jurado, Luis A
Publicado 2008

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

por Blasco‐Pérez, Laura, Paramonov, Ida, Leno, Jordi, Bernal, Sara, Alias, Laura, Fuentes‐Prior, Pablo, Cuscó, Ivon, Tizzano, Eduardo F.
Publicado 2021

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

por Codina-Sola, Marta, Costa-Roger, Mar, Pérez-García, Debora, Flores, Raquel, Palacios-Verdú, Maria Gabriela, Cusco, Ivon, Pérez-Jurado, Luis Alberto
Publicado 2019

bigSCale: an analytical framework for big-scale single-cell data

por Iacono, Giovanni, Mereu, Elisabetta, Guillaumet-Adkins, Amy, Corominas, Roser, Cuscó, Ivon, Rodríguez-Esteban, Gustavo, Gut, Marta, Pérez-Jurado, Luis Alberto, Gut, Ivo, Heyn, Holger
Publicado 2018

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

por Cuscó, Ivon, Medrano, Andrés, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fátima, Villa, Olaya, González, Eva, Rodríguez-Santiago, Benjamín, Vilella, Elisabet, Del Campo, Miguel, Pérez-Jurado, Luis A.
Publicado 2009

New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

por Álvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cerezo, Maria, Quintáns, Beatriz, Zarrabeitia, Maria Teresa, Cuscó, Ivon, Lareu, Maria Victoria, García, Óscar, Pérez-Jurado, Luis, Carracedo, Ángel, Salas, Antonio
Publicado 2009

Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

por Álvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cerezo, Maria, Quintáns, Beatriz, Zarrabeitia, Maria Teresa, Cuscó, Ivon, Lareu, Maria Victoria, García, Óscar, Pérez-Jurado, Luis, Carracedo, Ángel, Salas, Antonio
Publicado 2010

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

por Argente, Jesús, Flores, Raquel, Gutiérrez-Arumí, Armand, Verma, Bhupendra, Martos-Moreno, Gabriel Á, Cuscó, Ivon, Oghabian, Ali, Chowen, Julie A, Frilander, Mikko J, Pérez-Jurado, Luis A
Publicado 2014

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

por Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon
Publicado 2015

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

por Lucia-Campos, Cristina, Valenzuela, Irene, Latorre-Pellicer, Ana, Ros-Pardo, David, Gil-Salvador, Marta, Arnedo, María, Puisac, Beatriz, Castells, Neus, Plaja, Alberto, Tenes, Anna, Cuscó, Ivon, Trujillano, Laura, Ramos, Feliciano J., Tizzano, Eduardo F., Gómez-Puertas, Paulino, Pié, Juan
Publicado 2022

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

por Rudilla, Francesc, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Garcia-Prat, Marina, Martín-Nalda, Andrea, Rivière, Jacques, Aguiló-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier, Irastorza, Iñaki, Santos-Pérez, Juan Luis, Tercedor Sánchez, Jesús, Cuscó, Ivon, Serra, Clara, Baz-Redón, Noelia, Fernández-Cancio, Mónica, Carreras, Carmen, Vagace, José Manuel, Garcia-Patos, Vicenç, Pujol-Borrell, Ricardo, Soler-Palacín, Pere, Colobran, Roger
Publicado 2019

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

por Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M., Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F.
Publicado 2022

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

por de Valles-Ibáñez, Guillem, Esteve-Solé, Ana, Piquer, Mònica, González-Navarro, E. Azucena, Hernandez-Rodriguez, Jessica, Laayouni, Hafid, González-Roca, Eva, Plaza-Martin, Ana María, Deyà-Martínez, Ángela, Martín-Nalda, Andrea, Martínez-Gallo, Mónica, García-Prat, Marina, del Pino-Molina, Lucía, Cuscó, Ivón, Codina-Solà, Marta, Batlle-Masó, Laura, Solís-Moruno, Manuel, Marquès-Bonet, Tomàs, Bosch, Elena, López-Granados, Eduardo, Aróstegui, Juan Ignacio, Soler-Palacín, Pere, Colobran, Roger, Yagüe, Jordi, Alsina, Laia, Juan, Manel, Casals, Ferran
Publicado 2018

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

por Tenorio-Castaño, Jair, Morte, Beatriz, Nevado, Julián, Martinez-Glez, Víctor, Santos-Simarro, Fernando, García-Miñaúr, Sixto, Palomares-Bralo, María, Pacio-Míguez, Marta, Gómez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrión, Juan, Arias, Patricia, Almoguera, Berta, López-Grondona, Fermina, Lorda-Sanchez, Isabel, Galán-Gómez, Enrique, Valenzuela, Irene, Méndez Perez, María Pilar, Cuscó, Ivón, Barros, Francisco, Pié, Juan, Ramos, Sergio, Ramos, Feliciano J., Kuechler, Alma, Tizzano, Eduardo, Ayuso, Carmen, Kaiser, Frank J., Pérez-Jurado, Luis A., Carracedo, Ángel, Lapunzina, Pablo
Publicado 2021