Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

af Antonell, Anna, de Luis, Oscar, Domingo-Roura, Xavier, Pérez-Jurado, Luis Alberto
Udgivet 2005

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

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

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

af Madrigal, Irene, Xunclà, Mar, Tejada, Maria Isabel, Martínez, Francisco, Fernández-Carvajal, Isabel, Pérez-Jurado, Luís Alberto, Rodriguez-Revenga, Laia, Milà, Montserrat
Udgivet 2011

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

af Codina-Sola, Marta, Costa-Roger, Mar, Pérez-García, Debora, Flores, Raquel, Palacios-Verdú, Maria Gabriela, Cusco, Ivon, Pérez-Jurado, Luis Alberto
Udgivet i J Med Genet (2019)

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

af Iacono, Giovanni, Mereu, Elisabetta, Guillaumet-Adkins, Amy, Corominas, Roser, Cuscó, Ivon, Rodríguez-Esteban, Gustavo, Gut, Marta, Pérez-Jurado, Luis Alberto, Gut, Ivo, Heyn, Holger
Udgivet i Genome Res (2018)

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

af 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
Udgivet i Mol Autism (2015)

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

af Armengol, Lluís, Nevado, Julián, Serra-Juhé, Clara, Plaja, Alberto, Mediano, Carmen, García-Santiago, Fe Amalia, García-Aragonés, Manel, Villa, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García-Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez-Jurado, Luis Alberto
Udgivet 2011

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

af Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna
Udgivet i Orphanet J Rare Dis (2020)

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

af Reina-Castillón, Judith, Pujol, Roser, López-Sánchez, Marcos, Rodríguez-Santiago, Benjamín, Aza-Carmona, Miriam, González, Juan Ramón, Casado, José Antonio, Bueren, Juan Antonio, Sevilla, Julián, Badel, Isabel, Català, Albert, Beléndez, Cristina, Dasí, María Ángeles, Díaz de Heredia, Cristina, Soulier, Jean, Schindler, Detlev, Pérez-Jurado, Luis Alberto, Surrallés, Jordi
Udgivet i Blood Adv (2017)