Human genetics branches out in Barcelona

por Rabionet, Raquel, Espinosa-Parrilla, Yolanda, Estivill, Xavier
Publicado 2008

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

por Aigner, Johanna, Villatoro, Sergi, Rabionet, Raquel, Roquer, Jaume, Jiménez-Conde, Jordi, Martí, Eulàlia, Estivill, Xavier
Publicado 2013

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome

por Urreizti, Roser, Gürsoy, Semra, Castilla‐Vallmanya, Laura, Cunill, Guillem, Rabionet, Raquel, Erçal, Derya, Grinberg, Daniel, Balcells, Susana
Publicado 2018

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

por Álvarez-Mora, María Isabel, Sánchez, Aurora, Rodríguez-Revenga, Laia, Corominas, Jordi, Rabionet, Raquel, Puig, Susana, Madrigal, Irene
Publicado 2022

Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups

por Armengol, Lluís, Villatoro, Sergi, González, Juan R., Pantano, Lorena, García-Aragonés, Manel, Rabionet, Raquel, Cáceres, Mario, Estivill, Xavier
Publicado 2009

Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups

por Docampo, Elisa, Collado, Antonio, Escaramís, Geòrgia, Carbonell, Jordi, Rivera, Javier, Vidal, Javier, Alegre, José, Rabionet, Raquel, Estivill, Xavier
Publicado 2013

Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease

por Petersen, Britt-Sabina, Spehlmann, Martina E, Raedler, Andreas, Stade, Björn, Thomsen, Ingo, Rabionet, Raquel, Rosenstiel, Philip, Schreiber, Stefan, Franke, Andre
Publicado 2014

Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study

por Alemany-Navarro, María, Cruz, Raquel, Real, Eva, Segalàs, Cinto, Bertolín, Sara, Rabionet, Raquel, Carracedo, Ángel, Menchón, Jose M., Alonso, Pino
Publicado 2020

On the association between Chiari malformation type 1, bone mineral density and bone related genes

por Martínez-Gil, Núria, Mellibovsky, Leonardo, Manzano-López González, Demián, Patiño, Juan David, Cozar, Monica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Publicado 2022

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

por Susak, Hana, Serra-Saurina, Laura, Demidov, German, Rabionet, Raquel, Domènech, Laura, Bosio, Mattia, Muyas, Francesc, Estivill, Xavier, Escaramís, Geòrgia, Ossowski, Stephan
Publicado 2021

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci

por Martínez‐Gil, Núria, Ovejero, Diana, Garcia‐Giralt, Natalia, Bruque, Carlos David, Mellibovsky, Leonardo, Nogués, Xavier, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Publicado 2022

Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene–environment interaction approach

por Alemany-Navarro, María, Costas, Javier, Real, Eva, Segalàs, Cinto, Bertolín, Sara, Domènech, Laura, Rabionet, Raquel, Carracedo, Ángel, Menchón, Jose M., Alonso, Pino
Publicado 2019

Allele balance bias identifies systematic genotyping errors and false disease associations

por Muyas, Francesc, Bosio, Mattia, Puig, Anna, Susak, Hana, Domènech, Laura, Escaramis, Georgia, Zapata, Luis, Demidov, German, Estivill, Xavier, Rabionet, Raquel, Ossowski, Stephan
Publicado 2018

PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data

por Escaramís, Geòrgia, Tornador, Cristian, Bassaganyas, Laia, Rabionet, Raquel, Tubio, Jose M. C., Martínez-Fundichely, Alexander, Cáceres, Mario, Gut, Marta, Ossowski, Stephan, Estivill, Xavier
Publicado 2013

Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data

por Escaramís, Geòrgia, Tornador, Cristian, Bassaganyas, Laia, Rabionet, Raquel, Tubio, Jose M. C., Martínez-Fundichely, Alexander, Cáceres, Mario, Gut, Marta, Ossowski, Stephan, Estivill, Xavier
Publicado 2013

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment

por Garcia-Giralt, Natalia, Roca-Ayats, Neus, Abril, Josep F, Martinez-Gil, Nuria, Ovejero, Diana, Castañeda, Santos, Nogues, Xavier, Grinberg, Daniel, Balcells, Susanna, Rabionet, Raquel
Publicado 2022

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

por Castilla-Vallmanya, Laura, Gürsoy, Semra, Giray-Bozkaya, Özlem, Prat-Planas, Aina, Bullich, Gemma, Matalonga, Leslie, Centeno-Pla, Mónica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna, Urreizti, Roser
Publicado 2021

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

por Ugartondo, Nerea, Martínez-Gil, Núria, Esteve, Mònica, Garcia-Giralt, Natàlia, Roca-Ayats, Neus, Ovejero, Diana, Nogués, Xavier, Díez-Pérez, Adolfo, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Publicado 2021

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

por Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun, Schott, Jean‐Jacques, Munell, Francina, Colobran, Roger, Macaya, Alfons, Estivill, Xavier, Ossowski, Stephan
Publicado 2019

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

por Domènech, Laura, Willis, Jesse, Alemany-Navarro, Maria, Morell, Marta, Real, Eva, Escaramís, Geòrgia, Bertolín, Sara, Sánchez Chinchilla, Daniel, Balcells, Susanna, Segalàs, Cinto, Estivill, Xavier, Menchón, Jose M., Gabaldón, Toni, Alonso, Pino, Rabionet, Raquel
Publicado 2022